Abnormal is the New Normal

Can I tell you how happy this new study makes me?

"Using new technology to study the genomes of 270 volunteers from four corners of the world, researchers have found that while people do indeed inherit one chromosome from each parent, they do not necessarily inherit one gene from mom and another from dad.

"One parent can pass down to a child three or more copies of a single gene. In some cases, people can inherit as many as eight or 10 copies.

"In rare instances a person might be missing a gene.

"Yet despite these anomalies, they still appear to be healthy -- countering the notion of what doctors have deemed "normal" in genetics.

"The work highlights how DNA helps to make each human unique, hinting that a towering basketball player, for example, might boast extra copies of a growth gene or that a daughter really might be more like her dad.

"But the landmark report, published today by the journal Nature, also has disturbing implications.

"It suggests that some medical tests --such as prenatal scans -- may have incorrectly flagged these kinds of genetic quirks as signs of potential defects."

Later in the article the researchers compare the genome to an accordian, that can expand or shrink to accomodate the number of genes passed down, and which in most cases still results in a completely healthy person.

Take that, genetic determinism! And that, cultural imperatives of conformity masked as medical expertise! And that, people who are predisposed to see anything that looks other than what they were expecting and automatically conclude that it is wrong! Ha!

I wasn't going to post today, but reading this set off my internal cheering section, and I know some of you will be happy to read it too.

There is no normal, not when it comes to genes. What unites us, contrary to the article's lead paragraph, isn't the supposed 99.9% of the genome we have in common--which turns out to be a myth--but that we are all different. We share our differences.

Posted by Andrea at 9:40 AM | Comments (5)

High Risk of Snit Fit

I know all of you are so devoted to me and my family that you have all of my engagements written on your personal calendars, so this reminder is superfluous, but just in case: I had the ob-gyn appointment recently.

It was a typical wait for an ob/gyn, meaning over an hour, and a parade of pregnant women passed by continually with test requisition forms and pee cups while I cursed myself for not bringing a magazine or any tylenol 1s. Because, of course, I had a migraine.

The important thing is, she didn't flinch.

I told her the whole bit--the diabetic-with-preemie-reflux-baby-who-has-undiagnosed-genetic-syndrome bit--and she calmly told me when I should come back for the IUD removal and gave me a form to get an ultrasound to make sure it's still there. This, I think, is an excellent sign. Mostly, I'm just happy to have only one doctor.

~~~~~

Casey has been writing excellent posts recently on her homebirth experience and the homebirth/midwife/hospital birth/obgyn conundrum. I won't summarize them because then you will miss the experience of reading them for yourself and, really, that would be unkind of me. So I'll just proceed as if I know that you have all read them already. Because you have. Right?

Right! Good.

If one has extensive experience with the medical profession, as one might if one is, say, a type 1 diabetic, one comes to realize over time that the medical profession is, ah, uneven in its timely application of new research and techniques. That is, the research is published, the techniques are developed, the doctors nod their heads wisely and keep on doing what they're used to doing until someone forces them to do otherwise (gross overgeneralization! Yes, true; insert all your own subtleties and caveats, I probably wouldn't disagree). So it is unfortunately true that type 1 diabetic pregnant women today are managed much as they were a decade or two ago, despite new treatments that vastly improve blood sugar control and pregnancy outcomes, and despite considerable research that indicates that the interventions are ineffective.

"Speak English, Andrea."

Yes. Well. What the doctors are doing in the name of managing high risk type 1 diabetics does not actually decrease the risk at all. If you actually look at the studies. But the doctors do it anyway. I suspect most pregnant type 1 women don't actually go out and read the studies, so they likely assume that the doctors know what they're doing and are applying the latest and most up-to-date research and techniques, which is probably a less stressful way to live one's life.

Where I used to live, all diabetic pregnant patients were seen at the Diabetes portion of the High-Risk clinic in the local hospital. It was presented as a great convenience for patients: endos and obgyns all in the same place! Ultrasounds on site! Get it all over with at once! Actually it was terrifically inconvenient.

For one thing, all diabetic patients were seen Thursday mornings. Thursday mornings no good for you? Tough luck. Thursday morning it shall be, because that's the way the doctors like it. Redesign your entire life to accommodate our schedule, please.

For another, there were 8 obgyns in the clinic and one had no options about who one would see. One simply saw whoever was on rotation the day of one's next scheduled appointment. This meant that I never saw the same doctor twice in a row. And apparently they spent no time reviewing files beforehand, because they never seemed to know what was going on with me until they rushed through the office door, sat down, opened the file and skimmed the first sheet. Which means I often asked the very same question three visits in a row. And received three different answers, because I saw three different doctors.

For a third, they treated all of their patients the same way, regardless of blood sugar control. My very first appointment, I sat down with the nurse. I smiled at her, she smiled at me, and said, "The good thing about being diabetic is that we won't let you go overdue. You'll be induced at 40 weeks!"

And she really believed it was a good thing, too. I didn't, but it didn't matter; every time I brought it up with a doctor I would get a polite smile, a non-answer, and a firm commitment to induce at 40 weeks regardless of ultrasound results, blood sugar control, baby's size or the presence or absence of any signs indicating the onset of natural labour. As anyone who's done any reading on induction knows, if there are no signs that labour might be starting soon on its own (dilation or effacement of cervix, for example) then it often creates an incredibly painful labour that leads nowhere and results in a c-section.

Nothing was ever presented as a choice. "Your screening test will be at this office on this date." "You will have a level 2 ultrasound on this date. You will then have another level 2 ultrasound at the other clinic on that date."

And if I thought it was bad during the pregnancy, the actual delivery quickly put that in perspective, as the first thing they did was have me sign a form saying that they could do whatever they wanted and I couldn't object; then they strapped an electronic fetal monitor on me and refused to take it off, even for five minutes; which, as most of you will know, means you MUST be lying down to labour, which is incredibly painful and offers no options for relief, which almost invariably leads to epidurals, and so on.

I will never have to be in that hospital ever again, because last April we moved out of its area. I don't know that the new one is any better, but at least I don't have any negative associations with it. And let's not even talk about after the delivery, when they asked me if I wanted her finger-fed or bottle-fed and then bottle-fed her anyway even though I said I preferred finger-feeding.

~~~~~

But isn't it all worth it if the outcome is better? Isn't it all about a healthier baby? I mean, it's pretty selfish of me to complain about this stuff if it could save my baby's life!

Except that there is no evidence that it does so. The downside of reading the research is that even as they are doing something to me I know that it is ineffective and that the distress it causes has no positive effects whatsoever, for anyone, except for the hospital's pocketbooks because they can charge OHIP more exorbitant fees for higher-tech tests and interventions. And I have no choice. I would love to have a midwife; but the laws governing midwives in Ontario prohibit them from providing primary care to high-risk patients.

Look at this abstract:

Med J Aust. 2005 Oct 3;183(7):373-7.

The Australasian Diabetes in Pregnancy Society consensus guidelines for the management of type 1 and type 2 diabetes in relation to pregnancy.

Strict control of blood glucose levels should be pursued before conception and maintained throughout the pregnancy (glycohaemoglobin [HbA(1c)] level as close as possible to the reference range). Before conception: high-dose (5 mg daily) folate supplementation should be commenced; oral hypoglycaemic agents should be ceased; and diabetes complications screening should take place. Management should be by a multidisciplinary team experienced in the management of diabetes in pregnancy. Blood glucose monitoring is mandatory during pregnancy, and targets are: fasting 4.0-5.5 mmol/L; postprandial < 8.0 mmol/L at 1 hour; < 7 mmol/L at 2 hours. A first trimester nuchal translucency (possibly with first trimester biochemical screening with pregnancy-associated plasma protein A and beta-human chorionic gonadotropin) should be offered. Ultrasound should be performed for fetal morphology at 18-20 weeks, if required, for cardiac views at 24 weeks and for fetal growth at 28-30 and 34-36 weeks. Induction of labour or operative delivery should be based on obstetric and/or fetal indications. Level 3 neonatal nursing facilities may be required and should be anticipated when birth occurs before 36 weeks, or if there has been poor glycaemic control. Insulin requirements fall rapidly during labour and in the puerperium. At this time, close monitoring and adjustment of insulin therapy is necessary.

Did you catch that? Labour induction and/or operative delivery should be based on obstetric and/or fetal indications. In other words: don't just induce at 38 or 40 weeks because the patient is diabetic, for crying out loud.

I had to go back to 1993 to find an abstract supporting early induction of labour in insulin-dependant diabetics:

Am J Obstet Gynecol. 1993 Sep;169(3):611-5.

OBJECTIVE: Our purpose was to assess whether a program of expectant management of uncomplicated pregnancies in mothers with insulin-requiring gestational or pregestational class B reduces the incidence of cesarean birth. STUDY DESIGN: Two hundred women with uncomplicated, insulin-requiring diabetes at 38 weeks' gestation who were compliant with care and whose infants were judged appropriate for gestational age were randomly assigned to (1) active induction of labor within 5 days or (2) expectant management. The expectant management group was monitored with weekly physical examination and twice-weekly nonstress tests and amniotic fluid volume estimation until delivery. RESULTS: Expectant management increased the gestational age at delivery by 1 week. Approximately half (49%) of the mothers in the expectant management group required induction of labor for obstetric indications. The cesarean delivery rate was not significantly different in the expectant management group (31%) from the active induction group (25%). The mean birth weight (3672 +/- 407 gm) and percentage large for gestational age, as defined by birth weight > or = 90th percentile, of infants in the expectantly managed group (23%) was greater than those in the active induction group (3466 +/- 372 gm, p < 0.0001, 10% large for gestational age). This difference persisted after controlling for gestational age and maternal age and body weight (p < 0.01). CONCLUSION: In women with uncomplicated insulin-requiring gestational or class B pregestational diabetes, expectant management of pregnancy after 38 weeks' gestation did not reduce the incidence of cesarean delivery. Moreover, there was an increased prevalence of large-for-gestational-age infants (23% vs 10%) and shoulder dystocia (3% vs 0%). Because of these risks, delivery should be contemplated at 38 weeks and, if not pursued, careful monitoring of fetal growth must be performed.

The difference in birth weight between induction at 38 weeks and expectant management, if you're not into reading that closely, was about 200 grams or less than half a pound. It was half a pound that pushed approximately 13% of the babies over the magic "LGA" line; but it was still only half a pound.

This, more recent, review demonstrates no difference between expectant management (i.e. waiting for labour) or induction/c-section:

Cochrane Database Syst Rev. 2001;(2):CD001997.

BACKGROUND: In pregnancies complicated by diabetes the major concerns during the third trimester are fetal distress and the potential for birth trauma associated with fetal macrosomia. OBJECTIVES: The objective of this review was to assess the effect of a policy of elective delivery, as compared to expectant management, in term diabetic pregnant women, on maternal and perinatal mortality and morbidity. SEARCH STRATEGY: We searched the Cochrane Pregnancy and Childbirth Group trials register and the Cochrane Controlled Trials Register (last searched February 2001). SELECTION CRITERIA: All available randomized controlled trials of elective delivery, either by induction of labour or by elective caesarean section, compared to expectant management in diabetic pregnant women at term. DATA COLLECTION AND ANALYSIS: The reports of the only available trial were analysed independently by the three co-reviewers to retrieve data on maternal and perinatal outcomes. Results are expressed as relative risks (RR) and 95% confidence intervals (CI). MAIN RESULTS: The participants in the one trial included in this review were 200 insulin-requiring diabetic women. Most had gestational diabetes, except 13 women with type 2 pre-existing diabetes (class B). The trial compared a policy of active induction of labour at 38 completed weeks of pregnancy, to expectant management until 42 weeks. The risk of caesarean section was not statistically different between groups (relative risk (RR) 0.81, 95% confidence interval (CI) 0.52 - 1.26). The risk of macrosomia was reduced in the active induction group (RR 0.56, 95% CI 0.32 - 0.98) and three cases of mild shoulder dystocia were reported in the expectant management group. No other perinatal morbidity was reported. REVIEWER'S CONCLUSIONS: There is very little evidence to support either elective delivery or expectant management at term in pregnant women with insulin-requiring diabetes. Limited data from a single randomized controlled trial suggest that induction of labour in women with gestational diabetes treated with insulin reduces the risk of macrosomia. Although the small sample size does not permit one to draw conclusions, the risk of maternal or neonatal morbidity was not modified. Women's views on elective delivery and on prolonged surveillance and treatment with insulin should be assessed in future trials.

Or, in other words, babies delivered early were smaller (duh) but the risks of morbidity and mortality were the same. Of course, doctors do it anyway. They do it anyway because they believe it is safer and because they believe it will look better in a courtroom if, god forbid, anything were to go wrong.

The doctors were very good about picking up new research when it suited them, however; for instance, my skin reacts very badly to pregnancy. I look like a fourteen-year-old boy on steroids. I did some research on my options. I printed abstracts. I called Motherrisk to find out what the known effects and risks were. I decided that I wanted to try a topical antibiotic cream to at least mitigate or manage it (being very fair and thin-skinned, I also scar easily). I waited until the third trimester and then asked the doctor.

She said no. Why did she say no? Because a single study had just been released saying that infants who received too much oral antibiotics had an increased risk of asthma later in childhood. Was there the slightest evidence that the use of a topical antibiotic cream by a mother during the third trimester had any chance of even being absorbed, let alone crossing the placenta in sufficient quantities so as to increase asthma risk? No. This was the same obgyn who at a later appointment advised me not to write a birth plan, as I wouldn't get what I wanted anyway.

That was the attitude of the office: current medical research would be used when it enhanced the doctors' control over the patients. Otherwise, it was disregarded. They didn't have to pretend to listen to their diabetic patients because we had no other choices for care: midwives are legally barred from us, and family doctors refuse to take the high risk patients on.

Since my experience with them ended I've been known to say that I would rather give birth in the Ganges River than subject myself to their care again.

~~~~~

So one thing I was happy about on Wednesday when I saw the new doctor was that it's her own practice. It's not an office of eight where there is never one person to follow your care. I can get to know one doctor, who can get to know me; there can be discussions from week to week. Things can develop. I don't need to worry about sitting on an important question until I have an appointment with the one doctor in a large practice who isn't an asshole.

And there were other signs that I took to be positive, too. The pregnant women in the waiting room seemed relaxed. There were three teenagers, one girl there with her mother. I thought it was a good sign that she is seeing patients from a diversity of situations; and teenagers are frequently treated as high-risk, too.

I'm not letting myself get too settled in. Even if we are successful, maybe she'll want to refer me to someone else for my care. Maybe she didn't flinch because she has no intention of caring for a diabetic. I can only tell when the time comes. And she might be a complete jerk. Just as patronizing and controlling and rigid as the old practice.

But at least right now, I can imagine it otherwise.

Sometimes ignorance is bliss.

Posted by Andrea at 8:21 AM | Comments (10)

Only 79 Days Until April

After last week's puke prologue and this weekend's pukefest, I put in a request for a few days of reasonable health. My request was apparently denied, since I spent two hours last night wide awake from nausea before Frances woke up coughing at 3:00--and that was it for the night. She could not sleep for coughing so hard (and that was with her mattress elevated), so neither could we.

I'm using a sick day to stay home with her. She can't go in to daycare on six hours sleep. And I can't go into work on ... I don't even want to do the math. Nowhere freaking near enough.

Being less than 12 inches from a toddler coughing with her whole body for fifty minutes out of sixty will, of course, doom me to this cold myself in a few days, at which point I will need to call in sick again. *sigh* Every month I tell myself this will be the month I don't call in sick. And every month that resolution is smashed to itty bitty mucousy bits. Thank goodness for a generous sick leave package.

Posted by Andrea at 7:26 AM | Comments (4)

A New Beginning, Maybe

This is one of those grey-area posts: Here, or the other blog?

You'd think that after staying up all night emptying my stomach into the toilet, I'd have deserved a day on Monday to lie down with a few paperbacks and stay in my jammies all day. And you'd be right. Except I couldn't, because I had an appointment with my endo (diabetes specialist) at noon. These things are bears to reschedule; it can take months to get an appointment. I wasn't going to cancel it unless I was still actively puking at 11:45.

After reading me off the numbers from last summer's blood test (the last one he had, as the lab where I got last week's done was having computer troubles), he looked at me and said, "If I didn't know you and just had these numbers to go by, I'd never think you were diabetic." Which is just about the highest praise you can get, as a type 1, from an endo. He gave me another blood test requisition for this summer, about ten year's worth of prescription (thank the gods, because I hate going back for those things), and was all ready to leave when I asked:

"My husband and I are thinking about expanding our family. What's the standard for a pregnant diabetic woman in X town?"

"Oh, no big deal at all," he said. "You have one child, right? You'd continue to see me, but more frequently, and your family doctor would refer you to an ob-gyn."

My head swam. I almost fainted. No High Risk Clinic.

Those of you who have been following my story pre-site-crash will know what amazingly fabulous wonderful entirely unexpected good news that is (or at least, seems, right now).

For those who don't, here are Andrea's Top Reasons Why The High-Risk Clinic Should Be Firebombed:

1. They advertise it as convenient: Endo, ob-gyn, nurses, u/s machine, all in one place! Except that you have to wait at least 45 minutes and more often two hours to get in for the first appointment, never mind the other ones, so I was spending more than half a day on them altogether. They only held them on Thursday mornings so I could not schedule them at a convenient time for work, or for me. And because diabetics are seen more often throughout pregnancy, this was every other week all the way along, progressing to every other week close to the due date (which I didn't reach, but never mind).

2. You never get an ob-gyn. There are eight in the practice, and you see all of them. Some of them are lovely human beings. Others are complete dumbasses who should be locked up before something they say gets some angry pregnant woman (not naming any names) to scratch out their eyes.

2. a) Because you never have one ob-gyn, no one actually knows you or follows you. Every week the doctor scans your file to see what the last doctor said, and then repeats it. There is no opportunity to develop a relationship or have a conversation that spans more than one appointment.

2. b) I was one of the fortunate few for whom "glowing skin" meant "the absolutely worst acne breakout known to mankind." My face actually hurt, it was so bad. I called up Motherisk to find out if there were safe medications, I did some reasearch, I asked one of the ob-gyns for a prescription for a topical antibiotic. She refused it because there had just been a study released saying that if young children had too many antibiotics they were more likely to develop asthma. Never mind that has no connection whatsoever to topical antibiotics on their mother during pregnancy, for which there is no reason to believe that the fetus ever gets any.

2. c) The one who told me, when I questioned some of their prenatal testing, that I "would be glad of it if they found something wrong" because they could "give the baby steroids." Uh huh. Thanks for that, chap. And guess who ended up delivering Frances?

3. Their standard of care is more like a prison of care. There is no flexibility, and it is based on the worst-case diabetic scenario. So, for instance, at my very first appointment at the clinic, the nurse chirruped to me: "One of the good things about being diabetic is that we won't let you go past your due date." Now, at the time, I expected to go late because everyone in my family goes late; so this sounded like, "We're going to induce you on Jan 22 2004." I brought up this requirement at every doctor's appointment in the second and third trimester, especially after the A1C tests showing completely normal blood sugar values and ultrasounds showing a small baby. Why induce? I asked. Why not wait a week? Even three days? Why not wait THREE FREAKING DAYS? Because you're diabetic and there's a higher risk of stillbirth, they said, which is true. Oh, absolutely, yes. True for diabetics with poor blood sugar control. No evidence it was true for me.

Forget about informed consent. They were very clear in their instructions, but that's what they were: Instructions. Show up here, at this time, for this test/procedure. No, we will not discuss it.

It still makes me angry, and it's been two years since I've been there.

Where I used to live, that was the only way to get prenatal care as a type 1 diabetic woman, so I had no choice. I had to go along with whatever they did, even when I knew it made no sense. I'm sure you can imagine how well that went over with me.

I'm looking forward to being able to find my own ob-gyn. Even if they turn out to be as inflexible and poorly mannered as much of the old practice was, just having a file and a history with one or a handful of doctors who get to know me as a person, will hopefully be a more pleasant experience. You never know, they might even figure out that I'm a reasonably intelligent person who works very hard to control her diabetes and is reasonably well-informed about the risks of various outcomes and procedures. But I probably shouldn't get my hopes up.

We have not, by the way, made a decision yet, so congratulations would be premature.

Before we can even think about it, I'd have to find an ob-gyn who seems human, start taking 8 glucose tests daily, refine my basal doses, go on a mega-dose of folic acid for a few months (especially important for diabetics--I need about 4x what a healthy woman needs), then get the IUD out. The fastest that could happen is three months, but it's more realistic to assume six.

But even six months is probably not likely, given that I want Frances to be over three before any potential siblings arrive. It would be best if it were close to when she starts junior kindergarten, which is in September of 2007. So we're a ways off yet. But when you're diabetic, even thinking about it requires a lot of lead time.

I guess it's progress that I'm even considering it.

Posted by Andrea at 3:51 PM | Comments (8)

Time for the Battle-Armour

You may recall my vast disappointment with my husband when he went with Frances to see the opthamologist a few months ago.

You may wonder, what happened in the meantime?

I called the doctor and never got through. I bugged her old ped until her file was transferred to the new one. I called the new ped and got Frances a check-up appointment for December. THANKS. Very helpful. I called the opthamologist and didn't get through. I went out of town for Thanksgiving, and then to Ottawa on business. I called the opthamologist and didn't get through. I went to Winnipeg on business and then to Las Vegas.

I also checked out his website, and my eyes exploded when they read the notice that emails not specifically regarding existing appointments would be deleted. I called before and after hours, and was treated to a voicemail message saying that all calls not in regards to existing appointments would be deleted.

Yesterday, I finally got through to his office, and we have an appointment for tomorrow.

What, you may ask, did Erik do? Not a whole lot. He was keen to point out all the ocassions where Frances's eyes crossed, and blame the opthamologist for the whole sorry mess. Can't say he called anyone or actually did anything. Oh no. Or seems to feel the slightest bit of guilt for how bad things have gotten.

How bad are they, you ask?

Her eyes are basically crossed 75% of the time.

If she's not wearing glasses, they cross. If she's focused on something at close range, they cross. If she's not interested in what she's doing, they cross. If she's tired, they cross. If she's not feeling well, they cross. If she's engrossed in something non-visual like dinner, they cross.

She also resists me when I try to encourage her. "Use both eyes, honey," I say, and use a hand to block the stronger one so that the other is forced to focus. It used to be that this would work, and her eyes would remain straight for a while. Now? She whines and cries and shakes her head. I try to make it subtle by pretending to brush her hair out of her right eye, thus blocking it, but she just waits for me to finish and her left eye stays crossed.

I am so angry at Erik for being such a wuss about this. I don't care if he feels it's unmanly to make a fuss at a doctor's office. It's his fucking job as a father and he has no excuse. Frances doesn't need a daddy who the doctors all agree is a swell guy. She needs something for her eyes, and I am so sick of being the one who always has to do this work.

And I'm furious at the doctor for brushing off his concern, however tentatively phrased, because I don't care whether it's only a few times a day for a few seconds--when one of your eyes falls into your nose at predictable times, it is NOT NORMAL. I'm furious that there are so few avenues for getting in touch when there is a problem, and I'm furious that there is so little opportunity for making contact during his scheduled hours. This shouldn't have taken two months.

So tomorrow morning, I put on my battle armour and get ready to bust some kneecaps.

Anyone want to come along?

Posted by Andrea at 12:41 PM | Comments (17)

Rebuttal

Yesterday someone left a comment on my old posts about eugenics and family planning. To spare you all the bother of digging it up:

Oh, absolutely. Because what with the amazing availability of doctors and, in the US, the flexibility of HMOs in allowing you to select any doctor you'd like, this is easily done. Just open them yellow pages!

It might have helped if you'd decided to learn a bit more about myself and my family history before coming to the conclusion that this is just a matter of a few bad apples. Frances and I have seen seven separate teams of specialists and medical professionals, who can be divided roughly into two camps: the geneticists, who felt there was something "wrong" and made diagnoses to refer us to experts, and the experts, who felt there might be something "wrong" but nothing they could pin down. And since all this happened much too late for anyone to even bring up abortion, I never had to be "counseled" on that--instead I was offered advice on how to decide whether I should risk my own genetic material on the next generation or not.

Wouldn't it be lovely if it actually worked like that?

A) "Cost savings," especially in the case of T21, is most often obtained through fetuses aborted, and this is the measure used to define success in the majority of papers I've read on the subject.

B) "Identifiable disorders" is interpretd rather broadly, in my experience, and will include anyone who is identifiably different regardless of whether or not they have any "disorders."

You have got to be kidding me.

The rate of false positives for any disorder outweighs the true positives by a vast amount. Unless, of course, you are talking only about the definitive tests (i.e. amnio) and not the screenings. It is, of course, the screenings that most women are subjected to, and I know several mothers of my own acquaintance who were screened positively for conditions their children do not have.

And why aren't we aware of them? Could it be because, say, there aren't as many scientists interested in unlocking the secrets of something they see as "normal" vs. something they see as "abnormal"?

Height, too, is determined by several interacting genes as well as environmental factors. But these subtle nuances did not keep my little girl out of the medical merry-go-round. The fact is--whether you want to hear it or not--that her size was considered a "problem" that should affect my future reproductive choices. The fact that she was healthy, bright, happy, loveable and loving was all secondary to her height; whereas someone with children who are vicious, violent and mean (but a normal size) would not be sent off for specialized medical testing or subjected to well-meaning speeches about "what can be done" for "next time" if you "decide you want to try again," and "what your options are."

It has been made crystal-clear to me that should I decide to be pregnant again, I will be followed closely to monitor the baby's size. Why? To what end? They can't treat it or prevent it, there are no associated health problems, and gods know Frances is a wonderful child who any parent would be lucky to have. The only possible outcome of such "testing" and following would be to offer me the choice of an abortion should another fetus be similarly "affected." And solely on the basis of size.

Right. So when Frances's first doctor told me that she should see genetics because her "eyes were too big" (and you know, she took a genetics course in medical school!) and she was too small so there had to be something "wrong," though her health was perfect, and when the second doctor (who at least wasn't pushing formula on us to "fix" her size) said he would only take her on as a patient if we took her in to genetics, and when there were no other pediatricians who would take on new patients without a referral (that I couldn't get) or unless they were newborns--what would you call it?

I suppose I had the option to not have any doctor for her at all.

Noooo.... Because if they call you up on the phone and speak in a pained, hushed voice about "the doctor wanting to make an appointment this week," it won't make a pregnant woman panic. Or if they sit you down at your regular prenatal appointment and say something about echogenic bowels or elevated estrogen levels, you can just plug your ears and pretend you didn't hear them.

Nope. Only "encouraged." Only to have it offered--sometimes multiple times.

First of all, you are assuming that genetic counselors themselves are somehow free of the biases that permeate the rest of society, and won't allow those biases to influence the options they present to their clients, the testing they recommend, their tone in imparting diagnoses, and so on--in short, you are assuming that genetics counselors (and other medical professionals) are not human. Of course, they are, and any mother of a very small child can tell you that which doctor your child sees will have a tremendous impact on whether or not their size is viewed as a "problem" and what, if anything, you should do about it. They could also tell you that women of their acquaintance with very large children are normally not reffered to genetics because doctors tend not to see it as pathological, despite the existence of Marfan syndrome (which, yes, I am aware of).

Secondly, you are ignoring the entire system of genetics counseling. The point is not that individual genetics counselors are intent on wiping out certain traits. The point is that the whole system is based on what human traits are normal or desirable, and which are not, and that this is seldom based on what is medically treatable.

How, besides eugenics, do you explain the substantial literature measuring the success of T21 prenatal screening by the number of such pregnancies terminated? These are not scientists intent on learning the diagnosis so that they can treat the babies before they die--they are scientists intent on eliminating T21 as a human characteristic. Their papers are full of cost-benefit analyses based on the savings of not having to treat T21 because of the terminated pregnancies. That's not eugenics to you?

How do you explain why my baby girl was referred to genetics in the first place? There wasn't a single doctor, not one, who ever believed she was or would ever be sick. There was not a single doctor, not one, who ever believed she did or would ever need treatment of any kind, or indeed that there was any treatment in existence that could benefit her. The entire experience had no impact on her medical care whatsoever. The only reason we were referred was because one doctor thought her eyes looked funny, and another doctor thought she was awfully small; the only result we have from the entire thing is a resounding agreement that she is tiny, but healthy (something everybody already knew), and that our chances for recurrence in a future pregnancy range up to 25% (though no one precisely knows becuase no one knows why she is small). In short, the only possible result of this is to make Erik and I feel that our genes are somehow substandard and we are being awfully cavalier if we decide to inflict shortness on another child.

I think you need to be prepared that the people who see you may have a very different view of your services than you do.

How do you explain the women with prenatally diagnosed T21 fetuses who were repeatedly offered abortions? "Do you want to terminate? Are you sure? Are you really sure? Is it because someone else won't let you? Do you know how hard this is going to be? The baby could be sick! The baby could be dependant on you for life! Read this brochure. Are you sure you don't want to terminate?" Over and over for the whole pregnancy. Is that neutrally presenting information and respecting a mother's choice?

NO.

Believe it or not, after two years of experience with genetics counseling and testing, I am aware of the stated purpose of the project. It certainly does not reflect my experience, or the experience of most of the women I know.

I frankly don't care whether you "buy" that it's eugenics or not. But if you are so unreceptive to the stories of the populations you are purportedly interested in treating, I shudder to think of the experiences of your eventual patients. I have seen four geneticists, three pediatricians, a skeletal dysplasias expert and a craniofacial team; Frances has had chromosomal testing, genetics blood tests and bone scans; I have several women of my acquaintance who have been through prenatal genetics screenings of various kinds; and I know several women whose children are affected with different kinds of syndromes; and I know one other woman whose small baby girl was referred to genetics also solely on the basis of her small size in the absence of any signs of illness or trouble. You might want to sit up and pay attention to their stories, including the stories of their experiences with genetic testing pre- and post-natally, because if this is what you want to do with your life this is the population you are going to serve. And if they are experiencing this as a eugenicist project, then that might tell you something valuable and important that you can use in your practice.

That is, if you aren't too busy being defensive to hear it.

Posted by Andrea at 9:02 AM | Comments (8)

The World's Best Baby Ever, Bar None, Stumps the Medical Profession

After a brief examination and a series of questions, the exact words out of the specialist's mouth were:

"She's really small, and we're not quite sure why."

Maybe I should quit my day-job and become a psychic. Or a geneticist.

The day started promisingly with a 1 1/2 hour drive through heavy rush-hour traffic to get to the hospital. Have I mentioned that Frances is the World's Best Baby Ever, Bar None? Would you believe me if I said that she sat calmly and quietly in her car seat the whole way? I turned on Philedelphia Chickens and she said "music! music!" and made her teddy bear dance, clapped at the end of each song, and read her books happily. Meanwhile Erik and I are getting more and more frustrated as we inch along the highway.

She graciously accepted all compliments directed her way between the car and the doctor's office ("she's so cute! how old is she? oh, look at those eyes. my, she can really move!"). She demonstrated her voracious appetite by eating four arrowroot cookies and a handful of cheddar-gators (a type of goldfish cracker, but for toddlers) during the appointment. She chattered non-stop and made the frog and the teddy bear lie down and sit right-side-up, demanded the door be opened, asked to get up and then down from the chair at least a dozen times, and in general made herself a charming and obviously intelligent and capable little patient.

Meanwhile, Erik and I got some answers to all but the most important question. That being: Why the hell is she so small?

The medical establishment shrugs its collective shoulders, apparently. But to answer the rest of them:

1. Definitely not 3M. The fancy-pants lab in Paris also responded and said they don't think it's likely and don't recommend tested her genes for it.

2. It could be some funky recombination of our collective familial short genes, but there's no way to be sure and no way to explain why she seems so much shorter.

3. If it's not 3M, they really have no idea how tall she's likely to be as an adult, but we can take her back when she's four or five for a bonescan that will give us an estimate, if we really want to.

4. If we want, we can have a referral to an endocrinologist who can discuss growth hormone therapy with us. I said that from my reading it seemed very controversial, and that there was no way to be sure that it would do anything in the absence of a deficiency in growth hormone, so at this point I'm not interested. She agreed with my assessment on that and said she wouldn't recommend it, but we can do it if we want to. She also said that it's very unlikely to be a problem with growth hormone as kids with growth hormone deficiencies are not born short--and Frances was, at a very petite 15".

5. They said that, of course, without a definitive diagnosis giving a risk for recurrence in future pregnancies is not possible, but that the worst case scenario would be 25% (if it's recessive). Also, if it's recessive, they would not expect any future affected siblings to vary substantially from Frances--apparently with recessive conditions siblings tend not to vary much, if at all, in the severity of their symptoms. And while dominant syndromes vary quite a bit, we would not have any higher risk of recurrence for that than any other couple would have. So that's good to know.

6. Frances's newborn x-ray did not show any problems with bones that would preclude any normal childhood activities. She is cleared to ride roller-coasters, provided she grows tall enough. That is a tremendous relief.

7. There's really no reason to see them or any other geneticist again, unless we want to, because they're all pretty much stumped and expect to remain so.

At this point, it seems they just really have no idea what it could possibly be. Her bones show no abnormalities, so it possibly is not any kind of skeletal dysplasia; she shows no symptoms of any other syndromes that would make children so small--no health problems, no developmental problems, no characteristic features or findings. The doctor even said it's possible that she is an unexplained case of intrauterine growth retardation that does not demonstrate catch-up growth--this does apparently happen on occasion, and normally does not have a late-closing fontanelle, but at this point anything is possible.

Also! The news you've really been reading this for:

She is 7.26 kg (16 lbs) and 70 cm (27.5"). That's two inches and 1 1/2 pounds in five months, which is not bad. Not bad at all.

She's still tiny, but no more tiny than she was, if that makes any sense.

I'll add a revised growth chart today if I get the chance so you can all see her fabulous little growth spurt in technicolour. Last time we went, when she measure 25.5", I was sure she'd be 26.5"--she seems to undermeasure other doctors by about an inch, so I was positive Frances wouldn't be more than 26.5" this time. 27.5" was a very, very welcome surprise.

Posted by Andrea at 11:39 AM | Comments (16)

It’s not over until there’s nothing left of us but a few red smears to wipe off the floor

Well, that’s cheery, Andrea.

Email #1:

Hi M*,

Thank you so much for your prompt reply to my last email. I really appreciate it. I've cc'd my husband on this so he can stay in the loop.

I hope you don't mind answering some questions by email. It's much easier for me than making a phone call (since I'm at work all day).

1. I assume the answer to this one is no, but I'll ask anyway just in case: Are there any other candidate diagnoses on the table?

2. Dr. UVW, as well as another geneticist we have seen, stated that we don't have to worry about future health problems. While this is reassuring, it would be more reassuring if we understood the reasoning behind that. I understand that with some skeletal dysplasias, problems wrt bones can show up after different stages of development or milestones are reached, for example. How do we know that this is not the case for Frances? Is there any way to be certain? What, if anything, should we watch for as a sign of a potential problem?

3. I know that for many skeletal dysplasias, there are activities that are contraindicated. For example, many are advised not to go on rides at amusement parks because of weaknesses in the spine. Even for one or two families we know of where a child has an undiagnosed form of dwarfism, there seems to be some sort of knowledge of what the child can or can't do. We don't know whether or not that's the case for Frances. She had one bone scan done at birth; is that enough to know whether or not her bones are healthy/strong enough to take normal childhood activity? Is there anything we need to be cautious about? Is anything contraindicated? If she wants to go on the bumper cars or ride the pony at the zoo or whatever, can she?

4. This is a long one:

As I'm sure is indicated in our file, we have a history of short stature on both sides of the family. Not as short as it appears Frances is likely to be, but well below normal (and in many cases would qualify for LPO membership). Obviously I'm not a genetics expert, but it seems to me from thinking it over a bit that it might be consistent with a recessive gene of some kind. (on my side, my great aunt is small, under 4'10" for sure and I think closer to 4'5"; her parents and her siblings were all normal height or tall. She was sterilized under the Alberta government's lovely programme many decades ago, so has no children of her own; but my average-height cousin and her average-height husband have a little girl who is very, very small--although again, not quite as small as Frances, I don't believe. On my husband's side, his father is 5'4". His fathers' brothers and sisters and both his parents were shorter than that. His mother is around 5'6"; all three of their kids (my husband and his two siblings) are tall (5'7" (daughter), 5'10" (son), 6' (son)). Mid-parental height doesn't seem to describe that very well).

Is it possible that this describes a recessive gene/condition of some kind?

What happens when two recessive conditions on the same gene are inherited? What I mean is, if there are two mild recessive-short-stature conditions involved, one on each side of the family that both act on the same gene, could that explain why Frances seems to be shorter than her "short" relatives?

Sorry for what are probably silly questions, but at this point we've had eight false positives/misdiagnoses, and I'm thinking that if we're getting to the point of ruling out conditions as rare as 3M (although I realize Dr. UVW isn't at that point yet, it seems to be likely) that maybe no official diagnosis is ever going to fit her. And it seems to me that there are two options: 1) It's a fluke, some extremely rare mutation of a gene that acts in a dominant fashion that is unlikely to visit us again. 2) It's some sort of recessive genetic trait; in which case, either there was a recessive genetic trait for short stature hiding in both family trees in addition to the short people already there (making a grand total of three), or it is somehow related to the family history of short stature already on both sides of the family tree.

Does that make any sense?

This isn't entirely academic for us: If it's a 'fluke' dominant gene (like most cases of achondroplasia), then we don't need to worry about future siblings for Frances. But we have both been quite worried that perhaps whatever is affecting Frances is recessive and is in the 'mild' form--that any future siblings could have serious health problems--but if whatever is affecting her can be related to our family history of short stature, then that begins to look unlikely. Or this is yet another recessive genetic trait for short stature on both sides of the family tree that simply has never shown up and is in addition to the short-stature genes already known, in which case, maybe we do need to worry.

I know that's a doozy of a question, and that I'm probably asking you to summarize four years of advanced post-secondary education in a few sentences, but if you could clarify this for us it would be very helpful.

Thank you,

Andrea

Email #2:

Hello,

I would love it if I was able to answer all of your questions via email, but they are detailed enough that I don't think that it is possible. Instead, I would like to suggest that you and your family come to see us while Dr. UVW is in town this month. I know that there are a couple of slots that still have not been filled, and Dr. UVW indicated that she thought that it would be best to sit down to touch base with you in person.

Let me know your thoughts on this idea and I will have my clinic coordinator hold a slot for you.

Sincerely,

M*

~~~~~

We now have an appointment on Oct 18. So we won’t get our year off the merry-go-round after all, but on the other hand, we might get some answers. Or maybe not.

Posted by Andrea at 10:08 AM | Comments (11)

Eugenics and Family Planning Part II

Feminists often argue that a state policy keeping women in their traditional place is not needed where other forms of coercion are available--that, for example, a man doesn't need to hold a gun to your head or a knife to your neck for an act to count as rape, and that the state doesn't need to pass a law banning women from the workplace after having children if they simply structure the tax system in favour of single-income families and make childcare all but impossible to find. So the first aha! moment I had while watching the documentary yesterday was that the state doesn't need to pass a law preventing certain kinds of people from having children if they can simply make it difficult and unpleasant enough to do so.

What I wonder is: How does the medical system determine which parents need genetic counseling, and which ones don't? The couples who aren't recommended for counseling don't have perfect genes; no one does. Instead, there is a list of conditions they ask you about--does your family have a history of x, y, z?--and if you answer yes, off you go to the genetics counselors. And what is their job? To tell you about the risk of recurrence, to offer you tests to determine whether or not the fetus carries the syndrome, and to counsel you on your choices to terminate the pregnancy or seek out post-natal support if the answer is yes. (Note: It is not their job to tell you that everything might be fine, that it could even be amazing.)

Let me backtrack a bit and talk about some of the research I did during the Scary Ultrasound Phase of the pregnancy. All of the conditions I was told Frances might have (achondroplasia, hypochondroplasia, T21 and Turner Syndrome) are testable; that is, we know the genes or chromosomes affected and can determine prenatally whether or not a fetus is affected with a high degree of accuracy. However, they don't offer the test to everyone--that would be too expensive--instead, they attempt to narrow down the field by the use of the "soft markers." I won't go into it in too much detail since my old posts contain a lot of this information (if you're curious, go ahead and read the back entries), but the soft markers exist to determine which pregnancies have a high enough risk of carrying an affected fetus to determine the amniocentesis test's risk of miscarriage.

(Note: "risk." That's a loaded word, isn't it? Do we talk about the "risk" of carrying a fetus "affected" by above-average intelligence, tall stature, an ability to excel in mathematics or music? No. The words the medical community uses to discuss these situations makes perfectly clear what they think of these pregnancies without ever once having to use the word "undesirable.")

The journal articles about T21 were particularly revealing: many of the researchers measured their success by the number of T21 pregnancies successfully aborted. Not by the number of T21 pregnancies identified correctly, or the numbers of pregnant women offered counseling in how to prepare for a T21 baby, or the numbers of pregnant women carrying "normal" fetuses who were not exposed to the strain and stress of the kindly offices of genetic counselors. No. At the end of the day, they justified their work by the number of T21 babies who were not born. (Note: the links are only a small sample of journal articles on the subject.)

And tell me that's not eugenics.

But it's not a law, is it? No. It's all presented as optional. Of course, if you're a modern, caring parent you will want to know about the risk of your children being affected by T21, or by achondroplasia, right? And if they are affected, you will want to know how that will affect their quality of life, right? And you will want to know about your options in continuing or terminating the pregnancy, right? And then somehow, we forget to question--

We forget to question why it is that these syndromes are screened for, and those are not. We forget to question why it is that parents with T21 children, or dwarf children, or a family history of sickle-cell anemia, are offered genetic counseling (which includes all the wonderful modern tricks and gizmos that maximize your chances of not having an affected child--and again, tell me that's not eugenics) while parents with children who have learning disabilities, or who are violent, or who have a family history of heart disease or cancer, are not. In part that is because we don't know as much about the genetic basis of these (though that in itself says something), but truly, that's a cop-out: No one can tell me anything about the genetic basis of Frances's dwarfism, and yet that won't keep me from the clutches of the genetic counselors if Erik and I decide to roll the dice again.

Is there any plausible explanation besides eugenics? I can't see it. By the way, this is not a rhetorical question. If you have one, please offer it.

I have been thinking of this for the longest time as a question of sparing a child social ostracism or prejudice; and the scary thing is, that seemed rational. But how is it not eugenics? How is it not a statement of which people are desirable and deserving of life and society's benefits, and which are not?

To illustrate: If someone advocated that people of colour not reproduce because their children would be exposed to racism, we would be horrified. What's the difference?

When Frances was a baby, I knew one or two other women with babies who were her opposite--who were massive, way off the top of the charts in terms of height and weight. No one offered them genetic counseling to determine the cause of their "gigantism" or the "risk" of a future child being similarly "affected." How is this anything but a statement of our cultural values around size?

It isn't even the process of genetic counseling itself; it isn't what happens once you get there, or what they say (though sometimes it is--pointing out the baby's or child's "unusual features"--as if anyone is composed one hundred per cent of "usual features!"). It's who has to go through it, and who doesn't. It's who is expected to decide whether or not their children would be better off dead, especially when the "defect" being investigated is an issue only because of the prejudice of other people.

What exactly is the health or social cost of having a child like Frances? Zero. She's perfect! She's bright, sweet, fun, happy, loving, healthy, sociable, adorable--any parent would be lucky to have a child like her. How does being short hurt her or anyone else, except that our society values bigness? If we were truly committed to being an accessible society with equal opportunities for everyone and no barriers for physical differences, it would be a non-issue. The only reason I even need to think about this is because someone else decided that little people, dwarves, are not desirable, and I shouldn't want one.

No one had to pass a law allowing the state to tie my tubes and rip Frances's womb from her wee body to prevent these "bad genes" from being passed on to the next generation, the way they did to my great-aunt. No. All they had to do was put me through a wringer of genetic counseling appointments to discuss Frances's "unusual features," a series of unpleasant genetic tests, and a few off-hand statistics about the chances for recurrence in future pregnancies--that was enough to make me seriously question my right to have another child of my own body, to pass my funky genes down to another generation. As if Frances is flawed! As if she has less of a right to existence than some psychopathic gun-toting egotistical maniac who is genetically "perfect."

Do we have a eugenics act, forcibly sterilizing those who society feels should not have the right to reproduce? No. Instead we single out those family lines with traits we find undesirable and kindly ask the members of it to voluntarily refrain from reproducing, or at least take care to minimize their chances of carrying an affected fetus to term, to spare society the tremendous burden of our less-than-perfect genetic codes.

Does this make sense to anyone but me, or am I completely insane?

Posted by Andrea at 8:05 AM | Comments (19)

Just a random conversation.

(Door opens. Andrea races downstairs.)
Andrea: Baby! How's my baby girl?
Frances: Mummy!
Andrea: Frances!
Erik: I'm going out to get our bags.
Frances: Daddeeee!
Andrea: Let's go outside and watch him, ok?
(Andrea walking behind Frances on the driveway.)
Andrea: So how did it go?
Erik: Oh, well, it took two hours to see him.
Andrea: Mm hmm.
Erik: But I got her passport signed.
Andrea: And what about her eyes?
Erik: He said they're fine.
Andrea: Did you ask him about the crossing?
Erik: He said it's normal to cross sometimes, and 4 or 5 times a day for a few seconds isn't any problem.
Andrea: (flummoxed) But it's way more than 4 or 5 times a day! Did you tell him that?
Erik: No, I told him it was four or five times a day for a few seconds....
Andrea: WHAT?
Erik: Well, but he'd just looked at her eyes and said the prescription was fine, and ....
Andrea: So what? It's way more than four or five times a day! It's four or five times an HOUR! (Andrea notices neighbour staring at them and shuts up.)
(All go back inside the house.)
(As they enter)Andrea: Her eyes are crossed IN HER PASSPORT PHOTO.
Erik: Why are you so upset?
Andrea: (sits on couch. Thinks about possible consequences of lazy eyes that aren't caught and corrected early, like blindness. Thinks how they have been waiting for this appointment for six months, and it will be six months before the next one.) *sobbing*

I don't have a single good thing to say about him right now.

Posted by Andrea at 7:26 AM | Comments (22)

You Know You're a Reflux Baby Veteran If:

1. You anxiously examine your baby's face after every burp to see if it is wet or dry.
2. You never leave the house without kleenex and wet wipes.
3. Even if your baby is small or growing slowly, you are still careful about overfeeding because cleaning it all up off the floor (again) is worse than having to feed her in an hour because she's still hungry.
4. You own a wider selection of bibs than is commonly available in your local baby superstore.
5. You categorize any episode which soils only one piece of clothing a "small" spit and don't even bother to change clothes.
6. Every shirt, jacket, sweater and scarf your baby owns is stained beneath the mouth.
7. So are most of their jeans, pants, skirts and shoes.
8. When evaluating foods for baby or toddler, a prime criterion is how you think it will feel coming back up.
9. You still burp your toddler after every three ounces of milk.
10. Even though you do all of these things, you still find yourself, on a semi-regular basis, covered in baby vomit that came out of nowhere, carefully undressing your crying child and trying not to smear puke in their hair, wiping down their faces and feet and arms, wiping puky snot out of their noses, sitting in a puddle of smelly half-digested milk all over the couch, and the throw cushions, and your pants, and the floor, and letting them smear their little vomit-covered body all over the only clean thing you're wearing because they are so sad that this happened to them again.

I wish this would end for her. When she was a baby, the constant vomiting hurt her but it didn't bother her, if that makes sense. She screamed from pain but she wasn't sad. But now, the worst part isn't the smelly lumps of milk solids on everything or the laundry; it's when she looks at me, covered in vomit, and her big blue eyes fill with tears and her little lips start quivering. It's seeing how much she hates this, how sad it makes her, and there's nothing I can do.

When she was a baby it was all the time. Every feeding. I'd nurse her, burp her, nurse her, burp her, offer her a supplemental bottle of expressed milk, burp her, and carry her upright for at least 45 minutes, with her little legs straight so her tummy wouldn't be crimped or bent; and she'd still spit up. I had a whole ranking system, from trickles to gushers, and I got used to vomit pretty fast--used to having to change her outfit several times a day, and my own; used to wiping it off the floor and the bed; used to watching a volcanic torrent of smelly chunky white spew from her mouth and her nose to cover herself from face to feet. I never got used to the screaming that followed.

It got better as she got older. By four months it was noticeably less; by eight, when she was sitting unassisted, it was rare. I was hoping that by the time she walked it would be practically never; but we seem to be stuck at "rare" even with all of our reflux rituals.

She sits when she drinks.

She has to drink properly, tilting the cup or bottle far enough that she is not getting air.

If she drinks a few ounces, we take the cup or bottle away until she burps. She tries hard, too, screwing up her little face and making little grunting noises, trying to coax the air out and leave the fluid in.

But even when we do all that, it still overloads her little tummy from time to time and comes back to cover everything. You would not believe how much territory three ounces of partially digested milk can cover.

But the worst of it is how it makes her cry.

Posted by Andrea at 7:47 AM | Comments (8)

Panic Attack

A month or two ago, we noticed Frances’s eyes crossing late in the day when we took her glasses off for bed. And when I say “crossing” I don’t mean “drifting a bit towards centre”—I mean that her left eye practically falls into her nose.

And every week it’s been getting worse. Now it’s at the point where even sometimes her eyes will cross while she’s wearing her glasses, even after she’s just woken up. This is not good. It is completely freaking me out. Also, the eye—it’s just her left—is clearly bothering her. She rubs it often, squints with it, closes it when she’s trying to focus.

This is not good.

She has an opthamologist because of her glasses. We were supposed to see him on August 4. He called two days before to cancel it and reschedule for the second week of September. And ever week her eye gets worse, and I know it’s not likely that a few more weeks will make a difference but I HATE THIS.

Because we just moved, we don’t have a doctor here for her yet. I found a local pediatrician who is taking new patients; in order to get an appointment we need to have her file transferred over from her old doctor, who is on summer vacation until next week. So we can’t even get her in to see someone now to let us know whether or not this is something we need to move on NOW or if we can wait another month.

Have I mentioned that I hate this? I really hate this.

Of course, being me, I’ve done a bit of research. I hope it’s just that her eyeglass prescription is off, and we’ll get a new one and everything will be fine. And if I find out that it could have been that easy, but because we had to wait an extra five weeks it won’t be anymore….!

Heads will roll. I promise.

Posted by Andrea at 9:37 AM | Comments (6)

We need a symphony for this one

I know, I know. You've all gone away because I'm on vacation, curse you; I can tell no one is checking or reading right now by my dismal site stats. But while some things can wait, some news is too big to share.

Frances had her 18 month checkup today. It was the first one I wasn't anxious and scared of for days beforehand. I didn't weigh her on our digital scale or try to measure her with a tape measure once. This is enough of a milestone. I didn't freak out!

Even better:

Frances is now.....

.

.

.

.

FIFTEEN POUNDS!

Gee Andrea, your 18-month-old baby is fifteen pounds. Why are you capitalizing that?

Because she's gained TWO POUNDS in THREE MONTHS, which for her is totally unheard of, and according to our pediatrician she is NOW BIG ENOUGH TO BE FORWARD FACING IN THE CAR!!!! I mean, two pounds in three months is good even for a regularly-sized baby of this age. She's never ever ever gained as much as she was "supposed" to. This is a first.

Not even just bolding, but lots of really obnoxious caps.

Fifteen freaking pounds! Oh my god. I thought for sure she'd be at least two before she hit fifteen pounds.

*sniff*

Of course, according to their ever-precise measuring stick-thingie, she's only grown half an inch, which is absolutely impossible because she's no fatter now than she was 3 months ago and I don't need to roll up her pants anymore. Baby measuring is so precise.

We've been doing fun vacation stuff too, but I'm having too much fun doing it to write about it.

Posted by Andrea at 3:47 PM | Comments (9)

Odds 'n Ends

We heard from Frances's geneticist last night--her advice is that we not have any more appointments until she is three years old. That gives us a year and a half. Heaven. And the only reason she'd want to see her then is to discuss whether or not we'd want to pursue growth hormone or not--in which case we'd need to set the wheels in motion by then. For now we are off the merry-go-round.

We have the next check-up w/ Frances's pediatrician on the 21st (I think?) so we'll see what he has to say about it then.

Miscellany:

Yesterday I went shopping after my "migraine" got better and I got a little something for Frances:

Tell me it's not perfect. How could I resist? It's brand new, by the way, if there are any other Boynton-lovers out there.

I also picked up a second carseat (finally!)--$40 off at the Bay. And a book for me: Which I've been wanting since it came out in hardcover two years ago (I am one of those rare people who will buy a book in hardcover when it comes out rather than waiting for the paperback--I am a book addict). And a magazine that may or may not have anything to do with scrapbooking. And a gizmo that may or may not have anything to do with scrapbooking.

"Scrapbooking" is such a misnomer. Everything that goes into an album is brand-new. And most of it comes in 12x12 sheets. Maybe it's called scrapbooking because you generate a lot of paper scraps in making pages. Not that I would know. It's not like I scrapbook or anything.

So once my "migraine" went away (ahem) I had a fairly good day, enjoyed some me-alone time and spent some money. Of course it was all stuff I needed--really--except for the magazine and the gizmo, but I may not have bought those.

Posted by Andrea at 7:33 AM | Comments (5)

I think I prefer the merry-go-round metaphor

Warning: Not a happy post; do not read while eating.

In a nightmare last night, Erik and I were caught in a vicious trap. I can't remember who set it; I seem to remember feeling it was some kind of government programme. What I do remember is that someone was coming to harm or kill us and Frances.

In that dream there was a woman who said she was going to help us; she would tell us how to act, what to eat, and if we did these certain things and then turned ourselves in they would let us go. So we did.

And instead of letting us go, the researchers or doctors or whatever they were--who were so friendly and polite--took Frances and talked to us about the ways they were planning on experimenting on her before they disappeared. And Erik and I stood there and stammered frantically, trying to convince them--No, you don't understand; she has a genetic condition of some sort, you won't learn anything from an experiment on her; why don't you take one of us instead? Thinking: there must be some mistake, she swore if we did what she said that they would let us go.

What did we do wrong? What did we forget?

But then they told us merrily and happily how they were going to drill a hole in her spine and cut open her nose, and disappeared.

I woke up frantic, thinking, I have to find her and get us out of there.

The clock said 5:15, and I lay there for 30 minutes, telling myself she was fine, just in the next room, and she'd be awake soon and then I could see for myself that no one had come in the night to take her away. Even now that nightmare is clinging to me like humid, smoggy air.

She's fine, of course.

It immediately struck me, looking at that clock at 5:15, how my dream is a (wildly melodramatic) metaphor for our medical merry-go-round: If you just show up for this apopintment, get this test, see this expert, then we'll let you go. You and your husband and daughter can escape to a more regular life. And instead there's always one more test, one more specialist, one more expert, more waiting, and a sense underneath that they're never going to let us out; but that I have to find Frances and get us both the hell out of there.

Of course, no one is going to cut off her nose or drill a hole in her spine.

But the thing that strikes me is that in my dream, the researchers didn't see themselves as bad guys; they were so polite and smiling; they didn't see themselves as causing pain or doing harm. There were so well-intentioned.

It was hideous.

Anyway, enough of that; it's Friday, after all, and a beautiful day.

Posted by Andrea at 7:11 AM | Comments (2)

A milestone (of sorts)

Yesterday Frances woke up with a nice borderline cough: Bad enough that I felt wrong sending her to daycare, good enough that I felt wrong staying home with her. In the end Mommy Guilt won out and we stayed home for the day, and after trying a few local doctors to see if they were accepting patients (no luck) we went off to the walk-in clinic to see if it was a cold or something else.

Can I mention, just as an aside, how I absolutely hate taking her to new doctors? My rational mind knows better, but the Mommy Mind is always petrified that I'll end up with an over-zealous fanatic who thinks her small size is my fault and who will call the CAS. Silly but true.

However, we lucked out; the doctor we ended up with has a tiny grand-daughter (due to illness in her infancy) and didn't make a boo over her being so little--but he did diagnose an ear infection and give her some antibiotics.

An ear infection! On the one hand: poor bunny really was sick. Good thing we stayed home. On the other: This is her first ear infection and she's almost 18 months old. That's not bad, eh?

The appointment gave me another opportunity to view Frances's own unique version of stubborness in action: She just refuses. No temper tantrums (yet). She's very quiet about being stubborn. So that when the nice doctor wanted to look in her mouth and see if the infection had spread at all (it probably has, hence the cough) and he tried to get the popsicle-stick thingie in her mouth to see, she just pressed her lips together and stared at him. No screaming, no head-shaking, no tears. Just a big stare and some firm lips.

And she won. As the doc put it: "Well, I'm giving you medicine already, so why make you unhappy by forcing you to open your mouth?"

Posted by Andrea at 6:54 AM | Comments (0)

My New Theory

I've decided that it probably isn't 3-M syndrome.

Yes, I am going right against the best medical advice that Canada has to offer.

Here's why:

"Characteristic craniofacial malformations typically include a long, narrow head (dolichocephaly), an unusually prominent forehead (frontal bossing), and a triangular-shaped face with a prominent, pointed chin, large ears, and/or abnormally flat cheeks." From NORD

No long, narrow head.

A slightly prominent forehead, maybe, but nothing you'd notice without squinting.

No prominent, pointed chin.

No large ears.

I don't think she has abnormally flat cheeks. This is usually related to something called "hypoplasia" which means a mid-face bone that is undeveloped. When that happens you get problems because there isn't enough space for all the teeth to come in. But she hasn't had any tooth problems at all, and is teething on schedule with good spacing. So if she has any hypoplasia, it's so mild as to be pointless.

"In addition, in some affected children, the teeth may be abnormally crowded together; as a result, the upper and lower teeth may not meet properly (malocclusion)." Same place.

See above.

"Skeletal abnormalities associated with the disorder include unusually thin bones, particularly the shafts of the long bones of the arms and legs (diaphyses); abnormally long, thin bones of the spinal column (vertebrae); and/or distinctive malformations of the ribs and shoulder blades (scapulae)." Same place.

I wouldn't have a clue about this, really. But the skeletal dysplasias expert did say any findings with her bones were "very subtle"; she admitted it's possible that they're not there.

"Affected individuals may also have additional abnormalities including permanent fixation of certain fingers in a bent position (clinodactyly), unusually short fifth fingers, and/or increased flexibility (hyperextensibility) of the joints." Same place again.

No, no and no.

According to Gene Reviews, other symptoms include:

"fleshy and upturned nose, full lips, full eyebrows"

No flesy and upturned nose. No full lips. Her eyebrows are hard to see b/c they're so fair, but I don't think they're particularly full.

It would be one thing if the experts had said "we see these findings on her x-ray, so even though she doesn't have a characteristic face, we think this is it." But they didn't. They weren't even sure of the radiological findings; so to me the whole diagnosis is in doubt.

And if the radiological findings are so subtle they can't even be sure of their presence, and so few of the other findings are there--I mean, Frances's head is not long and narrow. It's very round. That's one of the reasons they had us doing the craniosynostosis dance before.

Here is my alternative theory:

Erik's father is 5'4". His immediate family (father, mother, brothers, sisters) are 5'2" at the tallest (the men) and most are under 5'.

BUT

Erik's father's kids are all TALL.

His daughter (my SIL) is 5'7"; Erik is 5'10"; his son (BIL) is 6'2". If my FIL's short stature were "normal" (as the geneticists call it) his children should not be that tall. It wouldn't be impossible, but it would be very unlikely. A geneticist would predict they would be in the range of 5'3" to 5'8".

So that is a pattern that is compatible with a recessive genetic trait, yes? Short man has very tall kids?

One might argue that perhaps this family had 3-M syndrome themselves and that's why they were all so short. But that is impossible. One of the effects of 3-M syndrome is sterility or subfertility in men. Erik's father had 11 siblings. That don't sound like a subfertile guy to me. All of the men in that family went on to have kids of their own, as far as I know.

So perhaps Erik's father's family had some other genetic syndrome that results in short stature but isn't 3-M.

On my side of the family, we have a history of short stature, too. I have a great-aunt who is 4'6" after a good night's sleep and wearing shoes. She's tiny. She may even be shorter than that--it's hard to remember. Anyway, all of her siblings were a normal height. She was the only short one. Because the government forcibly sterilized her as a child, we won't ever know what her own children would have been like.

I also have a cousin (who is tall) who married a man (who is average to tallish) and their first child was a daughter who is also tiny. At 4 1/2 years she was 27 lbs. That's below the third percentile. Not as much as Frances, but regardless. She's tiny too.

But her parents aren't. And neither of her siblings are. Which to me sounds again suspiciously like a recessive genetic syndrome. Doesn't it? But again, if it's 3-M, no one has diagnosed it--and they're not quite short enough. If the average height of an adult with 3-M is 4' then these people are giants in the world of 3-M.

So I do believe that it's possible that there is a recessive genetic syndrome involved that Erik and I are carriers for--possible a different one in each family that acts on the same gene. (Any aspiring geneticists want to take a stab at what would happen then?) But if there is, it's not 3-M because the adults aren't short enough and the men aren't infertile. So it's something else.

I feel like I might be reaching at straws here, but it's not so much that I'm desperate to avoid a 3-M diagnosis (I'm not) as that 3-M doesn't make any sense to me. Where did this recessive trait come from? Doesn't it seem awfully unlikely that in two families with a history of bizarrely short stature this other recessive syndrome just pops out of nowhere? Doesn't it make more sense to stick with the family history?

Posted by Andrea at 10:35 AM | Comments (3)

Here We Go Again

My first thought, after we met the genetics counsellor and the skeletal dysplasias expert, was that for the Foremost Expert in Skeletal Dysplasias in Canada (and Switzerland) she is very young. She doesn't look any older than 30 and I don't think it's possible that she's over 40. But the important thing was that she and the counsellor were both very forthright and kind people, who obviously deal with this kind of thing a lot. No mumbling about her "unusual features" or how her eyes are "strange."

We went prepared for the whole day, not knowing what to expect. We brought two snacks, lunch and supper, and a drink each of milk and juice for Frances, plus a whole bag of toys and books, and four clean diapers. Also some baby tylenol because overnight all four of her canine teeth broke through (all four! No wonder she's been having such a hard time sleeping, poor tyke).

As it turns out, we didn't need them.

But we did need the Duck.

The trip down was horrrendous. Over an hour stuck in traffic on the DVP. Then Erik went right to the hospital building, even though genetics is located across the street. We left home at 7:30 and got into the office right at 9:00, registered and sat down to wait.

It wasn't long. Just a few minutes past 9:00 and we were all sitting in a counselling room with lots of chairs, a table and a prominent box of kleenex. Which of course Frances immediately moved to destroy, so we put it out of her reach.

We spent almost an hour talking to them first. They got her medical history so far, asked about things like if we noticed her joints being loose or if she'd ever had to be hospitalized. They looked over her growth measurements (I brought them in) and her photo album (I brought that too--I have some experience with genetics appointments, you see). Then they took all of her measurements. On their scale she's only 65 cm (25 1/2"), but she's 6.5 kg (over 14 lbs). So take a few ounces, lose an inch, I guess. If I could take that weight and put it with the lengths we get at her pediatrician's, she'd be a much more impressive-sounding baby.

One thing I've learned through this whole process is that measuring babies is not a precise science.

This process was not something that Frances enjoyed. We got lots of big heaving sobs and fat tears. It's a good thing we brought that rubber duckie.

And what was the upshot of this whole thing?

.

.

.

.

.

They're not sure.

But they think it might be Three M Syndrome. Mostly because she is very short and her fontanelle is closing slowly.

This condition is very rare. According to my quick web search, only 40 individuals with it have been described worldwide since 1975. And she's not convinced, even so (I guess it's hard to be an expert in something so rare). But there's a group in Paris (France) doing some research on this condition and trying to find the gene, so what they're going to do is send them her information, photo and some of the stored dna sample and see what they think.

I don't know what they'll do if the Paris people decide she's not a Three M Syndrome case. The doctor said she didn't want to "overcall" it because the findings were very subtle; but every other thing she had been thinking of prior to meeting Frances involved some other problem (health- or intellect-wise) which Frances does not have, so she thinks Three M is the most probable bet. But she's not convinced.

It will be months before we find out if they've even decided to accept her blood sample, and it will be years before we hear anything definitive, if ever, because they haven't found the gene yet.

Months. Years.

I hate this.

In the meantime, I don't know what we're going to do. It's not Frances's health. That's not going to be affected in any way. Her final adult height wouldn't be much more than four feet, even with growth hormone treatments, but other than that she should be healthy and happy and all those other kinds of good things. No. This is a much more selfish reason.

The thing is .... Three M Syndrome isn't spontaneous, like achondroplasia or Downs. It doesn't "just happen." It's inherited. So if this is what it is--then Erik and I must both be carriers. And if that's true, then any children we have in future would have a 25% chance of having Three M again. And a 50% chance of being carriers themselves.

And if we're carriers, then our siblings might also be carriers. Their kids might be carriers. My cousin who has a tiny little girl too--she might be a carrier, her daughter might have it.

If it's Three M Syndrome, it could spread out and affect everyone in both of our families.

If it's Three M Syndrome, I don't know if Erik and I will have another baby.

I want them to be wrong this time. So badly.

Posted by Andrea at 12:20 PM | Comments (12)

More on the merry-go-round

I'm going to try out the handy-dandy future publishing tool.

As I'm writing this, it's Friday; but as you're reading it, it should be Tuesday. On Tuesday at 9:00 am, we have our next appointment with the merry-go-round of specialists trying to figure out why Frances is so small and why her fontanelle is closing slowly.

That would be today, if this works.

This person we are meeting with is supposed to be the top expert in Canada (and Switzerland) on genetic bone conditions of all sorts (skeletal dysplasias). Back during the initial ultrasound scare, we were offered a meeting with her on the possible dwarfism diagnoses and turned it down. I don't know anything about what to expect at this appointment, except that we've been told that after seeing Frances she may want to order some tests, and these may include bone scans and x-rays. Frances had an x-ray when she was born to rule out dwarfism conditions (achondroplasia and hypochondroplasia) but she may need something different than what they did then.

At least they should not need any blood tests, since I was told the last time that they would keep it so they could use the same sample again, instead of subjecting her to multiple pokes. I've tried to find the cached version of my pre-site-crash entry on the blood test, but alas, no luck. In a nutshell: I had to pin my 10-lb baby to a gurney so the nurse could take three vials of blood from her scrawny little arm with a regular, adult-sized needle. She was TEN POUNDS!

It was horrible. I keep telling myself that an x-ray or bone scan has got to be better than that, but I guess I'll have to see.

I don't know how long it's going to take, or what information we'll come away with, if any. After her blood test, we were told it would take "a few weeks" to get the results, and it ended up taking four months. (I can't find the cached site entry for actually getting the results, which turned out to be negative, but we got them in October.)

All I know is, I'm expecting to feel like crap.

These appointments are never easy. Some doctor or counsellor poking and prodding her and telling me about her "unusual" features. I tell you, these people need lessons in tact. I don't care what's up with someone's baby, find a way to phrase it that doesn't sound like you think they're ugly. That is the last thing a parent wants to hear. After one of these appointments last year, it took me ages to be able to integrate this experience with the rest of our lives--with going out in public and hearing so many compliments on how beautiful she is. I've decided to believe the public, and doctors be damned. What do they know? It's not like any of their previous diagnoses have been right.

Some of those links are cached by Google pre-site-crash, in case any of you who are new are at all interested in some of the more detailed history we have on this. I can't believe we've been dealing with this in one way or another since November 11, 2003. That's 18 months now. And everyone is sure something is wrong, but no one seems to be able to tell us what, though they all have their own opinions (and every time we go back, their opinions get better and better).

I used to hope that someday we'd visit a doctor and he or she would tell us that it had all been a terrible mistake, and Frances was perfectly normal and healthy. I used to hope that her growth would catch up and prove them all wrong. I used to hope that if it was something, it would be small and fixable. I no longer hope for these things because my hopes keep getting dashed and it's too painful to keep wanting it.

All of the doctors seem certain that there is something going on. We all know she's eating enough and digesting it properly. Her development is quite normal (except for the walking) and by now if this was in any way related to malnourishment, she would be way behind. She is as big as she is capable of being. They also say that her fontanelle is very large for her age, which I suppose is true, since it seems to extend from about mid-skull to around the top of her forehead and is still a few centimetres wide. And they say that her ears are low set (also true--her glasses are always slipping down) and her eyes are prominent (true again). They say her thumbs and big toes are a bit broad. They say that it is very unlikely that all of these things occurred together by chance, although so far no one has been able to pinpoint any genetic condition that could cause all of these things together, without also causing serious health problems or developmental delays. Of course, the low-set ears and prominent eyes and broad fingers/toes are so mild that they readily agree it is well within the bounds of normal. So what they are really concerned about is her fontanelle and her size.

I've spent well over a year now researching this as much as I can. I can't find any known genetic disorders that cause a late-closing fontanelle and slow growth and nothing else. She should be having bone fractures, or heart attacks, or delays, or the whites of her eyes should be blue. Her fingers should go off at strange angles. Her legs should be bowed. Or her limbs should be obviously too short or her forehead too prominent. She shouldn't be able to use words so well, if at all. She should have poor muscle tone. If any of the known genetic disorders were causing her smallness and her open fontanelle, one of these other things should be happening too.

So once upon a time, I hoped that someone would tell me she's normal. Now, I just want closure, and it doesn't look like I'm going to get it. I want someone to give me a long latinate word that I can't pronounce so I can write it down and look it up and find out what's going on; I want to have that word in my back pocket so the next time someone asks why she's so small, I have an answer. I want to be able to use it to look up other parents who might have gone through the same thing, so I can have one person in my life who understands what this is like and can reassure me the way that I've been able to use my experiences to reassure others.

I want closure. I want to know. But it looks pretty likely that I won't. Instead Frances may be one of those people I read about in the medical journals, where the abstracts read "2-year-old subject male standing 28 inches and weighing 21 lbs presenting with unknown syndrome characterized by mild hypoplasia, macrosomia and hyperextension of the joints, possibly connected to FGR genes." I don't want her to be a case study, a medical mystery for students and doctors to pore over, trying to be the next doctor to crack another genetic mystery open for the Good of Mankind. Not that I can stop it, if it's going to happen.

I'm all for medical progress. I just want them to keep their grubby paws off my little girl. I don't want them to progress by turning her from a beautiful, vibrant, fun-loving, sociable little girl into a black-and-white faceless photo in a medical textbook.

We'll see. We'll see we'll see. There's nothing I can do about it, if it's going to happen.

So if I can't have closure, then what I would really like is a competent, caring, knowledgeable doctor. Someone who doesn't make it any worse than it has to be. That's what I want. And if anyone reading this is so motivated I would appreciate a few crossed fingers.

I don't know how long this appointment or any tests might take, so I don't know when I'll be getting back, but I will make a point of posting an update when I can. It might be today, or it might be tomorrow, depending on where my head is. I don't know how likely it is that I'll be going in to work tomorrow, either. We'll see how it goes and how traumatized we all are.

Posted by Andrea at 4:00 AM | Comments (4)

Thank the gods for modern medicine

After everything I've gone through with Frances, it's all too easy to hate the medical establishment. All the extra (and unnecessary) crap of the diabetic pregnancy, the ultrasound scares, the half-dozen false diagnoses, the doctor who thought Frances was small because of breastfeeding and said I should switch to formula, the nurses who bottle-fed her and introducted nipple confusion, the blood test that was supposed to take four weeks and took four months, the dozen experts we've seen who each have a different opinion....

It's easy to be angry and bitter. It's easy for me to hate them on principle, and to react to any news from a doctor with skepticism.

Which is why it's good to see this or this and realize that medical science can actually do some good sometimes.

I never would have lived without medicine (insulin) and it was modern medicine that put Erik's shoulder back together, but for the last 18 months almost the only experience I've had with doctors or nurses has been negative. People getting things wrong, messing up, making mistakes.

But still. To all those of you who have little people who are here, alive and well, only because of modern medicine: I am so glad for you. You deserve every shred of that happiness, and I thank the Powers That Be for your miracles.

Posted by Andrea at 10:11 AM | Comments (0)

What would be strong enough?

How would you punish this man in any way equivalent to the damage he's done?

TheStar.com - MD accused again over lost evidence

From the article:

"The girl's body was examined by other experts, including Vancouver pathologist Dr. Rex Ferris.

"They concluded the fatal wounds were caused by dog bites.

"Reynolds spent two years in pre-trial custody, plus time in a halfway house, and was forced to put another daughter up for adoption before prosecutors withdrew the charge on Jan. 25, 2001.

"She never recovered custody of that daughter."

Posted by Andrea at 7:40 AM | Comments (0)

Your Daily Outrage

This man needs to have his head examined.

TheStar.com - Pathologist lost vital evidence

Preferably by chopping it off and looking inside.

What kind of sick person would conclude at every death of a child he ever investigates that their caretaker committed murder? I'd love to know how many parents are in jail right now for the death of their own child because of this man's incompetence or imbalance.

Posted by Andrea at 10:02 AM

The Weigh-In

Frances has her 15-month checkup this afternoon at the pediatrician's. Predictably, I feel nauseous.

It happens every time, and those of you who have been reading since before my initial site crashes are getting sick of hearing about it, I'm sure. I know she is as big as she is capable of being. She could not possibly eat any more. We are already amazed at the amount of food she manages to cram into her tiny little tummy--isn't it only supposed to be as big as their fist?--and joke about hollow legs with leaking toes. How she manages to eat this much and be as slim as she is (I can see her ribs! She has an outie!) is a mystery to me. I couldn't eat what she does.

And she's thirteen pounds, for crying out loud.

But then today at 4:00 pm she will be weighed and measured and we will see how far below the charts she is now.

My favourite analogy is: Imagine the Rocky Mountains are the growth charts. They are roughly bell-curve shaped. Roughly. Indulge me here. So the peak is the 50th percentile. And let's say Canmore is the third percentile. (I'm Canadian; Canmore is in Alberta, in the foothills.)

Frances is in Montreal. Or maybe Toronto, when she's plumping up. She certainly isn't any farther west than that.

And there really is no way to communicate the panicky feeling of watching your child slide farther and farther off the charts.

Not because she's unhealthy in any of the usual ways that make kids really skinny or small. She's not.

But because there is, essentially, no tool to tell us whether or not she is growing as she should. OK, I realize that the growth charts are imperfect for this use anyway and most kids who slide up or down centiles are in fact healthy and normal. I learned a lot about their weaknesses when Frances first started her long slide, and it was reassuring when she was at least in spitting distance of a centile line, any centile line, but now she is so far below that it does me no good at all to hear that the growth charts aren't perfect and wouldn't help that much even if she was on them.

But they would. Not much, not often, but at least there would be a way to compare her growth to other kids and see if there is a pattern worth checking out. As it is, how would I ever know if there was a problem? A health related problem with her growth? The only pattern I could be sure is "not good" is if her height stops growing at all or if her head circumference stops keeping up (if you can believe it, her little skull is about the twentieth percentile and has been since birth. It's the only part of her body on the charts, and while it is small in comparison to most children's, on her it is a very big head).

There are times when I panic because it seems she hasn't grown at all. When she's been wearing the same clothes for forever and they don't seem any smaller and when she seems the same height relative to the furniture she uses to propel herself around and when I can't tell if her little feet are any farther down my torso now when I pick her up.

I can't use the charts to reassure myself then. All I can do is remember--she's gaining weight and skinnier than she was, and that wouldn't happen if she weren't taller; she used to wear cloth diapers which is the only reason she was in this size clothes in the fall, now she's in disposables which is why the clothes have lasted so long; she did grow ten inches in her first year, which is normal; and calm down, Mom, you don't want her picking up from you that there is something wrong with her body, do you?

There isn't. She's such a beautiful little bug. And maybe it's stupid but part of the reason I want to get a diagnosis is so I can see what the growth pattern is, so I can reassure myself that she is growing normally for herself. If that makes sense.

As it is I won't be able to breathe normally or relax my shoulders until Daddy and Frances get home from her appointment this evening.

Posted by Andrea at 8:18 AM | Comments (3) | TrackBack

Ultrasound post from November 28, 2003

32 weeks 2 days: Technical Stuff and False Positives

I'm going to bitch about this whole ultrasound thing a bit more. Feel free to skip it. There will not be a test. But before you do, and if you are or ever become pregnant and are thinking about ultrasounds, consider: 2.5% of all babies will have major congenital malformations. About 55% of them will be caught by ultrasound. 5% of all fetuses will be designated as "at risk" for DS alone as a result of ultrasound. Thus you have at least a five-fold higher chance of getting a false-positive as a true-positive, and the chance of an abnormality being "caught" as opposed to "missed" is about 50/50. You may as well examine chicken entrails, as far as I'm concerned.

How on earth did it become common practice to measure the actual femur length against the 50th percentile femur length for gestational age for fetuses?

I mean, when you see someone on the street and you think they have short legs (or long), are you comparing them to a hypothetical half-man/half-woman 5' 7 1/2" person with absolutely normal legs? Which is what this is, in practice, since girl fetuses are smaller than boy fetuses.

The other standard seems to be to compare the length of the femur to the width of the head. Which at least has the virtue of looking at an internal ratio of the actual body involved, but still.

Again, when you see someone and you think they have short legs is it because the legs look short in relation to their head?

Doesn't everyone, when they notice or think about it at all, look at the length of the legs in comparison to the rest of the body?

Not only do these practices catch small fetuses with legs verging on "short", but they are sure to miss large fetuses with actually short legs, because they're not comparing the legs to the rest of that baby's actual body. They're comparing it to a mathematically normal body. A mathematically normal body that probably does not exist much of the time. My BIL told me that his grandson was diagnosed with a head size in the 0th percentile. Can you imagine how that would panic you, if you were the parent getting that ultrasound diagnosis? I mean what, your son doesn't have a head? No, it's just a very small, otherwise completely normal head. Apparently he's now 4 years old, quite bright, and can still wear newborn sized caps.

How much of what I've just been put through is rank stupidity, in both the standard practices and in the individuals involved?

Stupidity of Persons Involved: Who did not know, or act as if they knew, that the cut-off for dwarfism concerns is 2 standard deviations from the mean, or 2.4 percentile. Baby is at 5. Who did not initially look at any other indications of dwarfism, like mineralization of the bones, shape of the bones, size of the thorax (chest) or spine, etc. Who did not relate the risk information when communicating this to me, and did not say that "your baby has legs in the 5th percentile, and dwarfism is at most 1/5000, so the chances are still very small; besides all the other signs are still absent." Who did not compare the 28 week ultrasound to the 20 or 22 week ultrasounds, in which they would have seen that the actual/expected ratio for the femur has actually remained fairly constant at 87-92% throughout.

I'm not an expert, I didn't go to medical school, I'm not making $200g/year. Yet I can see that this makes no sense.

And, well, we've already seen the stupidity of the actual practices, which identifies 2.5% of all babies at risk for a condition that strikes 1/5000. That's just bloody arithmetic. You don't even need to have gone to highschool to see that doesn't work.

And now with the DS thing.

Well, you know me. I did my research.

Yes, short femurs are a screening tool for DS. "Short" here is defined as 90% of expected length or less. So for DS, yep, we're short. What does a "screening tool" mean?

It means that all or nearly all infants with DS will be so identified. It does NOT mean that all infants so identified have DS, or even most of them, or even a significant portion of them. Statistically, it means that having a short femur may (in combination with other screening measures, like maternal age, presence of other markers, blood test results, etc.) raise your own risk of a DS baby to a level where the chance of finding out that your baby has it is greater than the risk of miscarriage implicit in any of the methods to find out. In other words, your risk is elevated to >1/270. Or, in 270 such pregnancies, one baby will have DS.

Based on the literature I've managed to find and review--none of it offered by the doctors, oh no, of course not--it looks like baby's fetal biometry has changed my baseline risk from about 1/1000 (based on age alone) to about 1/250 to 1/500. So I may be just barely considered "high risk" as defined by 1/270.

Which means that the chances of losing a healthy pregnancy by getting the tests done are the same as the chance of having a baby with DS, for me right now.

Well, that's just peachy.

If you'd think that would make me feel better, you'd be wrong. Oh, it's true that I feel much better now than I did after the 30 week appointment, when I basically went through each day in a semi-comatose state and went home every night and cried. (This is why doctors should not treat patients as stupid people and should tell them all the relevant information.) But even a shadow of a possibility that there might be something wrong is just too much. In terms of anxiety and stress, anyway.

I found a really interesting journal article on the UofT library site, which discusses the utility of ultrasound in screening for DS and the impact of such diagnoses (both true and false) on the woman, the couple, and the pregnancy.

1. "False Positive" in ultrasound diagnosis means that a pregnancy is labelled as "high risk" for one of these disorders, and is subsequently found to be normal. It doesn't mean that they told you it is a problem, only that it could be. So now, potentially, I've had two.

2. Data on the "soft markers" for various conditions (a "hard marker" means "yup, you've got it"; a "soft marker" increases the statistical risk by varying amounts but has little significance in itself. Femur length is a "soft marker") is generally collected from high-risk populations. For DS, that means that studies generally look at women over 35 or who have had "positives" on previous blood screening tests. After the research I've done, I can confirm this. The number of studies of diagnosing DS by ultrasound, or even screening for it, that use women considered "low risk" is, well, low. A handful. Maybe. But the results of the studies on high-risk pregnancies are applied to all pregnancies, low-risk included.

3. The use of soft-markers in ultrasound screening led, in one general population study, to a 4% increase in true diagnoses, vs. a 12-fold increase in false positives.

4. In Great Britain, 2% of all pregnant women receive a "high risk" designation on the basis of soft markers in ultrasound screening (apart from high-risk labels already dished out by age, health, smoking, etc.). So 2% end up being told they are high risk for something that happens to only 1/750 live births.

5. In the US, that number is 5-10% of previously low-risk women because of the litigative atmosphere and wrongful birth suits (I'm not making that up).

My guess is that Canada is somewhere in the middle, though it's not indicated in the article.

6. Due to the poor diagnostic ability of soft markers, some studies have shown that up to 4 healthy fetuses will be lost through amniocentesis or other invasive diagnostic procedures for every one case of DS that is diagnosed as a result of them.

7. The sensitivity of the tests are generally considered to be 75-80%. That means 75-80% of fetuses with DS will be referred for further testing, and 20-25% of fetuses with DS will be missed altogether. The false positive rate is 5%. This sounds reasonable, until you see that (as the authors calculate it) "Among the 4000 pregnancies monitored during that year, 5-6 children with Down syndrome would expectedly have been born in the absence of prenatal testing. For each child to be diagnosed, it can be calculated that 30-40 expectant couples received information about an increased risk for Down syndrome and underwent invasive diagnostic testing." (4,000 pregnancies = 4,000 ultrasounds; 4,000 ultrasounds at 5% false-positive rate gives 200 false positives; 200/5.5 actual cases=35 or 30-40 couples.)

In every article I read, this was considered an "acceptable" level of accuracy for prenatal screening for DS. But it doesn't look so good when you actually calculate it out, does it?

8. Now consider the effects of those false positives on the couple: There is only one study that looked at the psychological and emotional impact of a false-positive diagnosis from ultrasound on a couple, and it was not a good thing: "...the identification of fetal soft markers can be profoundly distressing .... Many interviewees perceived that the disclosure of a soft marker left them with almost impossible choices and had created a state of alienation and crisis which most felt compelled to resolve.... The presence of soft markers made a majority of women put their pregnancy 'on hold' whilst waiting for results of invasing testing; one woman described how she literally closed the door to the baby's room." Can I say hell yes, please. For a solid week I couldn't even look at the closed door. Goes on to say: "...Baillie noted how attempts to establish emotional distance from the fetus was often accompanied by feelings of confusion, alienation and ambivalence."

She goes on to talk about how the distress and anxiety continues even after invasive testing rules out the problem, and can be severe. It can continue not only throughout the pregnancy but afterwards, leading to a parental perception of fragility in their children throughout their lives.

9. And what is the effect of all this on the fetus?

They are affected by maternal emotions, including anxiety. Maternal anxiety and distress during pregnancy can cause problems in the unborn child and has been linked to behavioural problems in the child after birth.

I can tell you for sure that this little Sprout responds to anxiety. On the day of the diagnosis and throughout that weekend, she was bopping and thrashing away like a wild thing. I don't know what all that maternal cortisol and adrenaline does to a baby in the long term, but it can't be positive. Even now, this afternoon, while I was writing this she was more active than usual.

My experience of this pregnancy has been permanently altered. Even though mentally I can recognize that the risk is low, the anxiety and tension of not knowing and hearing that there might be something wrong is a constant now. It wasn't worth it. If I had any choice but this high-risk clinic and their "standard of care" that made all of this mandatory for me, I would take it. I would give birth in the Ganges river if that was the only other option I had.

Posted by Andrea at 12:57 PM | Comments (5)

Ultrasound Post from November 19, 2003

31 weeks 0 days: Achondroplasia and Hypochondroplasia Prenatal Screening and Diagnosis

So.

Of course, what I really wanted to hear was, "Woah, did the person ever mess up last week! You're not measuring 3 weeks behind!" I didn't get that.

I also did not get, "yup, dwarfism, for sure."

What I got was:

Baby's legs grew three weeks worth, but only 3 weeks worth. Which means there is still a 3 week lag. But the lag isn't widening.

This means I don't know for sure what is going on. It could still be dwarfism (although you would expect the gap to be widening as growth would continue to slow down). It could just be really short legs.

They also did not see any of the other signs of dwarfism. Now, the radiologist said that lots of those signs are hard to see on ultrasound (narrowing of the pelvis or the spind, for instance). But definitely Erik and I could not see the bulging forehead or depressed nasal bridge, and we couldn't see bowing in the legs.

That doesn't mean it's not dwarfism as those signs could develop late or not at all. They're not always present.

I am grateful for this. Even if the worst is true, there is no way now that it could be a fatal dysplasia (or dwarfism). It is even unlikely that it would be a serious achondroplasia (the most common dysplasia, or dwarfism). Apparently on average achondroplasia is definitively diagnosed before 28 weeks. So for it to be still "ambiguous" at 31 weeks is a good sign--mild achondroplasia, hypochondroplasia (super-mild achondroplasia) or a healthy person with really short legs (and arms). Or a very late developing achondroplasia, but like I said, that's looking unlikely.

I did a shitload of research over the past 6 days (pardon the language). I have a pile of medical abstracts, websites and textbook copies that weighs more than the baby does. I'm glad I did this, because most of the information I've gathered is from those sources. Doctors will answer your questions, but selectively, and only if you know what questions to ask.

One thing I learned is that the genetic mutation that causes dwarfism has been identified and can be analysed prenatally. So I can get a definitive "yes" or "no". This is what I'm going to ask the doctor for tomorrow. I just can't stand the thought of another 9 weeks of weekly or biweekly ultrasounds, and wondering every time--is this the day? Ack ack ack.

I mean, if I hadn't done any research I still wouldn't know the medical names for the illnesses. I wouldn't know what the secondary signs are, to ask if they were present. I wouldn't even know what 3 weeks behind dates means in terms of diagnosing them.

As it turns out, "weeks" is not how they're diagnosed. You look at the actual measurements and calculate the standard deviations below the norm, or the percentile values (and if you've never taken stats and have no idea what I'm talking about, feel free to ignore. This is more for my sake anyway). To definitively diagnose dwarfism in the third trimester, you need to have a "very short" femur, which is defined as 2 standard deviations below the mean minus 5 mm or less. At 31 weeks, that would be a 49 mm femur or shorter. If that were the measurement we were getting, it would definitely be dwarfism.

We're at 53 mm. This is still classified as a "short" femur, which is anywhere from 2 standard deviations below the mean to 2 standard deviations below minus 4 mm. So from 50-53 mm. We're right at the cusp of a "short" femur. "Short" femurs can be "dwarfism of late development" (which tends to be milder), chromosomal anomalies (like Down's or trisomy 18, but there are no other signs of such disorders), mild growth retardation (not likely given the rest of baby's stats are more or less on track), or "constitutional shortness." A short person.

In one study I read, 12 fetuses were diagnosed with "short" femurs in the third trimester. Of those 12, only 1 had dwarfism. One had a chromosomal anomaly. The other 10 were healthy.

I have a pretty good idea of how the parents of those 10 babies felt.

The exception to this rule is when a "short" femur is found in the third trimester and there is a family history of dwarfism. Then you are likely looking at dwarfism again. But that makes sense.

You know I'm just babbling now and no one has to read all of this. There won't be a test. I promise.

But here is something I found interesting. OK, standard deviations off the mean sounds pretty abstract, especially if you've never taken stats or hate numbers. So here is another way to think of it.

By mathematical definition, 34% of all fetuses will fall within one standard deviation below the mean (or average) and the mean. Forty-eight per cent will fall between the mean and two standard deviations below the mean. (The same holds for going above the mean, but of course, this has no bearing on dwarfism.)

This means that by mathemcatical definition, 2.4% of all fetuses will have femurs that are farther than 2 standard deviations from the mean, or in potential dwarfism territory. That's 1/50.

But dwarfism strikes only 1/5000. And that's all forms of dwarfism.

So of the fetuses whose femurs are more than 2 standard deviations below the mean, and thus in a grey area, only 1/100 will have a form of dwarfism. Most of them will be the "very short" as opposed to "short" but anyway, even if it were more even, still, that's a 1% chance of a "short" femur meaning dwarfism.

That's not to say that the other 99% are hunky dory because there are other pontential problems--growth retardation, downs', trisomy 18, complete absence of limbs. And I am not as up on their prevalence. But I'll bet you that all of them put together still account for far less than 2% of fetuses.

This doesn't mean I'm out of the woods. It could still be dwarfism. But everything I've read seems to indicate that dwarfism, at least the serious varieties, become unambiguous before 31 weeks. I so so so so so hope this means everything is ok.

Oh, and another interesting stat to ponder:

We're at 53 mm. The average for the age is 60mm. That's a 7 mm difference between the norm and the second percentile. Not only that, but 53 mm is 88.3% of the normal size for the age. I just find it amazing to think how little natural variation there is in this measurement.

Anyway. That's it. Still scared, but less so. I wish I'd gotten something more definitive.

Posted by Andrea at 12:55 PM

Ultrasound Post from November 11 2003

30 weeks 1 day: The Discovery, plus Achondroplasia and Hypochondroplasia

So it looks like I didn't avoid my share of prenatal trauma after all.

You know you are in for a bad appointment when you sit down with the nurse, and she bites her lip and says "the obstetrician is going to want to talk with you about the results of your last ultrasound."

And they whisked me right in there. I don't know how many women were technically supposed to get in there ahead of me, but they didn't. I've never had such a short wait. I saw the nurse within ten minutes of arriving, and the ob 10 minutes after that.

The baby's size was fine all right. But she said that the femur (thigh bone) length is measuring at 25 weeks, and the head is measuring at 28w plus a few days (28 weeks was when I got it done).

She added a whole lot of caveats. There is a lot of variation in dating in the later parts of pregnancy, and the later you go the more variation there is, sometimes amounting to 2 or 3 weeks of error in dating. But on the other hand, it could be indicative of a "mild form of dwarfism."

Then she put on her "let's look on the bright side" face and went on about how in some populations, mild dwarfism is common and you can hardly tell; and how it's probably because I have short legs and arms myself. (I do? Then why did all those boys in highschool call me "legs"? And why can't I find pants long enough?) And, anyway, it could always just be tech error or something and I shouldn't get myself worked up; but she wants me to go in for another ultrasound next week and see her afterwards to follow up.

So I have an ultrasound appointment next Wednesday, and another Ob appointment next Thursday. And then another appointment the week after that on the usual 2-week schedule (from today). Good thing I have so little work to do or this might be a problem.

Of course I'm freaking out. How could I not be? I have no idea what "mild dwarfism" might be, or what to expect, or how the hell it could pop out of nowhere at an ultrasound at 28 weeks when there was no evidence of anything at 20 or 22 weeks (the last ultrasounds).

Now that I've done some research I've even more confused, although slightly less overwhelmed.

For instance, I have no idea what "mild dwarfism" might be since it's genetic. You either have it or you don't. That's like saying, I don't know, partial cancer.

On the other hand, because it is genetic and they've identified which gene, they can do testing to make a definitive diagnosis. If they have to.

The one place I could find where they actually talked about ultrasound diagnosis of dwarfism, they said it was usually diagnosed at 20 weeks and indicated by a difference in dates of 4-5 weeks between femur length and head measurements. So a difference of 3 weeks dating at a 28 week ultrasound doesn't sound like the same thing at all. On the other hand, this is the only source I could find on the subject, so goodness only knows if it's reliable. And 3 weeks still sounds like a lot.

There isn't much information to be hand on the variability of ultrasound scans. I did find what the conditions were for ensuring accuracy in measurements, so you can bet I will be asking lots of questions next Wednesday.

I don't know what to think.

Apparently dwarfism is usually associated with some developmental delays, but that's just related to the skeletal differences; intelligence is normal.

I'm trying to figure out what this ultrasound means so I can either reassure myself between now and next Wednesday/Thursday or begin to get used to the idea. But it's hard. The most common form of dwarfism only affects 1/25,000 births, so there is not a lot of information available on its diagnosis, especially prenatally. What there is is very vague--"look for foreshortened limbs." Well great. How foreshortened is "dwarfism" vs. someone with short legs?

Posted by Andrea at 12:54 PM

The Story So Far

I am a type 1 diabetic, so my pregnancy with Frances was rigorously planned. Before we started trying, I got my sugars under control, purchased an insulin pump and learned how to use it, visited all of the specialists to make sure I had no complications or other contraindications to pregnancy, and then it was hats to the wind.

In May of 2003 I got a positive HPT. The estimated due date was January 22 2004. I was relieved that it wouldn't be a Christmas baby. I cracked down even more on my blood sugar control and managed to maintain average blood sugars between 5.0 and 6.0 mmol. I took my folic acid and my prenatal vitamins. I cut down on caffeine to less than 100mg a day. I didn't dye my hair. I began crocheting a bunting (alas, it was never finished) and cross-stitched two Peter Rabbit pictures for the nursery walls. We picked a nice, bright granny smith green paint for the walls and good, solid furniture which was assembled before 30 weeks. I abstained from alcohol, except for half a glass of champagne at my brother's wedding and a shot of limoncelli on my trip to Italy. I sewed bright yellow curtains for the baby's window. I sewed a big floor pillow in the shape of a bear. I bought a big diaper bag that looks like a stuffed dog, a little soft yellow stuffed elephant, some nice outfits size 0-3 months, lots of books and magazines on pregnancy and motherhood; in short, I did everything I was supposed to do.

It didn't work. It didn't keep the bogeyman away.

On November 13, 2003, I was 30w 1d pregnant. I sat down in the nurse's room of the ob/gyn high risk practice that was following me (due to the diabetes). The nurse bit her lip, looked at her feet and said, "The doctor is going to want to talk to you about the results of your last ultrasound."

I learned from the doctor that the "problem" was that the baby had "short femurs." Size was normal, head was normal, all the organs were there and working properly, but the femurs were short. I was told they were three weeks behind expected measurement. I was told this meant the baby might have a "mild form of dwarfism," but that's probably because I'm short (I'm 5'8") or my legs are short (they aren't). I was told I shouldn't worry because the baby wouldn't die. That people with this form of dwarfism, you can't even tell, they are just short. I had no idea what any of this meant. All I had heard was that there might be something wrong with my baby, my little baby who squirmed and kicked and mooned the world all day and all night long. My little baby who had a bright cheery room, many little clothes already washed and lying in the drawer. My little baby who I'd waited so long for and worked so hard for and done everything I was supposed to for.

My dream of a perfect baby died that day, and nothing would ever bring it back.

My pregnancy, which I had just loved right up until then, even though I'd been terribly sick for the first 18 weeks, was tainted. I closed the door to the baby's room. Sometimes I would forget I was pregnant at all--look down at my stomach and be shocked to see it, swollen and round.

I did a lot of research. I read hundreds and hundreds of pages from medical journals on ultrasound screening, achondroplasia and hypochondroplasia (the "mild" forms of dwarfism), diagnosis, accuracy, false positives, as well as what the lives of people with these disorders were like. Would my baby be happy? What would life be like? What did I need to know?

I learned that the definition of "short femur" used to screen for true dwarfism (achondroplasia) was much shorter than 3 weeks behind, and that "weeks behind" didn't mean anything anyway because it was diagnosed by percentiles (3rd %ile or less). I learned that the majority of people with legs this short were just people with short legs, that the risk of a person with legs below the 3rd %ile having achondroplasia was approximately 1/200. I did not learn any of this from the doctors. I had to find out by myself, researching in the library.

We met with a geneticist who told us that the risk of achondroplasia, she felt, was minimal to non-existent. There was a possibiilty it was hypochondroplasia (the mildest form of dwarfism), and it could also be downs' or another chromosomal disorder like Turner's syndrome. I asked her what the risks of those were, based on our ultrasound results. "Oh," she said, looking shocked, "I couldn't possibly say."

I got copies of all the ultrasound test results. I found a site online that calculates the numeric risk of down syndrome based on ultrasounds and found out that my result was approximately 1/300, or almost great enough to justify an amniocentesis. I'd been told that if I wanted an amnio, it should be after 36 weeks because it might trigger premature labour and we didn't want a premature baby. I did more research, on screenings and diagnoses for chromosomal disorders.

We went for more ultrasounds to track the growth of baby's legs. They stayed three weeks behind, which was a very good sign--they weren't getting any shorter relative to the rest of her (by the way, three weeks behind in her case translated to about the fifth percentile). I scanned the images on the computer screen desperately, trying to prove to myself that she had no secondary signs. No frontal bossing, no trident hands. Sometimes I thought I saw it, other times I thought I didn't.

I vacillated terribly on the question of the amnio. Some days I felt relatively good, that the risks were low and in any case we could handle whatever happened. Some days I felt desperate, struggled to adjust to a new reality and a new life I had never prepared for. On those days I went shopping, and spent a lot of money--"My baby deserves the best of everything," I told myself, "whether she's "perfect" or not. She's perfect to ME. She's beautiful to ME." Some days I was torn by a terrible needing to know, a choking awful feeling of grief, and on those days I needed the amnio. If only so that the birth of this desperately wanted baby could again be joyful, instead of terrifying--if only so I wouldn't be ambushed in the delivery room--if only so I could prepare and work on acceptance.

I never did make up my mind.

On Sunday December 21, 2003 (35w4d), I had a surprise baby shower. I returned home and went to bed. Shortly after midnight I awoke to a wet mattress and what I thought were gas pains. Soon I realized that my waters had broken and I was in labour--the contractions were three minutes apart. I hadn't even packed my bag yet. I quickly did, and then at 3 am when the contractions were still strong and getting stronger, I awoke my husband (he was sleeping in a separate bed that week because he had a cold) and we went to the hospital, still half convinced that it was a false alarm and they'd send me home.

But no. On Monday December 22 2003 at almost 10:00 am, Frances was born--exactly one month early and weighing 5 lbs 1 oz and just over 15 inches long. In case you're wondering--that's very short.

Frances spent 8 days in the NICU while the nurses pretty well did whatever they pleased with her. They fed her from bottles even though I asked them not to--they gave her pacifiers even though I asked them not to--and yes, she ended up with a terrible case of nipple confusion (which the nurses said didn't happen to preemies) and a distinct preference for a nipple shield (which the nurses told us we needed to successfully breastfeed a premature baby). We managed to overcome this through pretty drastic measures after she'd been home several weeks, still wasn't taking the breast, and I was losing my mind using the nipple shield (which I hated) and pumping all the time to supplement her. Of course once we got her off the fake nipples she wouldn't take one again until she was 8 1/2 months old, but that's another story for another day.

Meanwhile the high-risk pediatrician determined that she did not have down syndrome and showed no signs of dwarfism. They took a blood test for chromosomal abnormalities and that, too, came back negative. Our baby was (briefly) normal.

Meanwhile, she wasn't growing very fast. Her length shot up relatively quickly over the first month or two and she briefly hit the tenth percentile, but her weight was increasing very slowly. First hypothesis: reflux. She was spitting up huge amounts after almost every feeding, and screaming afterwards for hours. We couldn't put her down at an angle of less than 45 degrees for even a few minutes or she would spit up everything in her little tummy and scream. I learned to get by on one meal a day, without peeing, without showering, and without getting dressed. Leaving the house was a joke. Her carseat bunched up her tummy and made her spit up, and from the driver's seat I would hear her choking on it and crying. Already scared adn worried over her low weight gain, I did not dare put her down during the day unless it was absolutely necessary. She slept held upright on my chest all night, and I dozed leaning upright against the headboard. She went on zantac, and it helped, but not so much that I didn't have to do all of these things.

The reflux slowly got better, but her weight gain did not improve. Our family doctor had been seeing her and was nervous about this; she had been pushing formula not very subtly for months. I resisted because it would make the reflux worse, and have a family history of allergies, asthma and diabetes, the risks of all of which are increased in someone fed formula during the first year. I did not believe it had anything to do with the breastfeeding, as she had lots of wet diapers and poops, was active and alert for many hours each day, and meeting her milestones on target. At one appointment she recommended to me that we take her to the geneticist's again because her eyes were "unusual."

"She has her father's eyes," I replied.

I went home and cried. Her eyes, her beautiful big blue eyes, were one of the things I loved most about her. How could they mean that anything was wrong?

We got in to see the high-risk ped who'd seen her at the hospital and he agreed to take her on. This was a huge relief; he didn't push formula or panic over her unusually slow weight gain. But he did want us to see the geneticist. Our respite, our period of having a "normal" baby, was over.

We saw the geneticist. She agreed that her eyes were unusually prominent, that she was very small. Furthermore her ears were low-set and her anterior fontanel (the one on top) was very large and closing slowly. I discovered that as painful as it is to hear about a problem with the baby to be, it is nothing like being a mother and hearing a doctor discuss your child's "abnormalities." She suspected a craniosynostosis disorder, possibly crouzon's or pfeiffer's syndrome, though the wide-open fontanel gave her pause. She said we could have a blood test taken and the genes analyzed to be sure. That's what we decided to do.

I was paranoid about her "unusual" appearance for a while. People looking at her made me feel sensitive and strange. I was over-protective. I didn't want to leave the house with her and expose her to other people who might think she was "unusual." LIke the lady who led one of the baby programs at the rec centre, who said she had a niece who looked "like a turtle" when she was a baby, and now she was a really pretty girl! I took great comfort in the many, many lovely people who stopped us when we were out to compliment her on her big mop of blond hair, her sweet demeanor and her huge blue eyes. They might be unusual, but they got a lot of compliments.

I took my five month, not-yet-10-lb baby to the lab and another nurse and I pinned her to a gurney while she screamed so another nurse could take several vials of blood out of her little broomstick arm. I was told I should have the results in "a few weeks."

It took four months.

The results were negative. She did not have a craniosynostosis disorder.

So back to the geneticist's we went because if she's short, her fontanel is closing slowly, her ears are low-set and her eyes are prominent (though the doctors are no longer convinced of this--it seems she's grown into them. I could have told them that, but whatever) there has got to be something wrong with her, right?

Right?

Personally, I don't know. Our next appointment with an "expert" is May 17, and hopefully we will know after that. But I've thought that so many times by now that I am halfway resigned to never knowing. I worry about what this will do to Frances's self-esteem, growing up with doctors rambling in her ears about her "unusual" features and how they must be "pathological." It's hard enough for me to hear it.

So that is our long story.

If you've actually read through the whole thing--Congratulations! I think that deserves a prize of some kind.

If you are pregnant or expecting and you have been told that there might be something wrong with your baby, I hope you were able to take some comfort from this. You are not alone. Whatever you are feeling is normal and healthy. It will get better. Hang in there. Doctors can be and have been wrong. Frequently. Keep reading the rest of my ultrasound entries. There is a lot of information in there about the frequency of false positives--which outnumber true positives by a huge margin.

If you are a parent with a "different" child then you already know all of this, don't you? Only maybe you think I'm whining and spoiled because, after all, my baby isn't sick and doesn't need surgery (though we thought for a while that she would, on her skull) and is meeting her developmental milestones. I do feel very blessed for this. It could have been so much worse.

If you too are living in a permanent limbo-land of some presumed diagnosis that never materializes, then you will know already about the constant anxiety that never quite fades. How sometimes when you are staring at your child's beautiful face you will also be evaluating their "unusual" features, to see what it is the doctor sees, and if maybe they're right.

This is not the whole story.

Of course it isn't.

Look at how beautiful she is. I'm not biased, either.

This story, that I've written here, is the story of all the terrible things that I did not expect, but which I somehow survived. And got used to. But it is not the whole story.

You didn't read here about how much I love her. Or maybe you did, in my post yesterday. You didn't read about how perfect and flawless she is to me, how I would not trade a hair on her head, how if this year and a half is the price I have to pay for Frances to be the loveable little person she is, then I would pay it over again. How I would never trade her for a "normal" baby, or even herself made somehow normal.

You didn't read here about the charming, sweet, giggly, smart, amazing little individual person she is. About all the days in between the weigh-ins and the appointments and the tests and results, when I hardly ever even think about this. You didn't read here about our picnics in the park, about how charmed and enthralled her daycare workers are with her, about how much she laughs, or how much she loves to play kissytickles or belly biting baby (it is what it sounds like). How she lights up whenever she sees the cats and tries to chase them around the kitchen. How she loves chocolate. And cheesies. How well she does with strangers, how social she is. You didn't read here about how happy she is.

Life with her is amazingly, overwhelmingly good.

I couldn't have pictured this back at that doctor's appointment, when I first got The News (which turned out to be wrong anyway).

But it's true.

There was a time I could not have imagined things being this ok. I could not picture my life with a child who was "different." When I was pregnant, the only thing that reassured me was that they might be wrong (and as it turned out, they were, about the dwarfism and the chromosomal abnormalities anyway). I could not have pictured myself coping with any of this. I could not have pictured myself remaining relatively sane and even happy.

But that was before I knew Frances. Now I love her so much, I can't picture her any other way, and whatever "condition" she has (if she has one) is such a small part of our life together. It's just another thing about her. She has big blue eyes, a throaty little laugh, when she sleeps she has a huffy breath, two crowns on the back of her head make her full blond hair (already two inches long born one month early) stand up in a teeny mohawk. And, oh yeah, her fontanel is closing slowly, she is still growing out of her size six-month clothes, her ears are a bit low-set which makes finding glasses that fit her tricky.

Our life has not become her diagnosis, whatever it turns out to be.

I did not think, before she was born, that I could be a mother who coped with this. Those mothers you read about in the newspaper, the ones with babies who have some disability, those stories that make them sound so heroic and noble--they are not special women. They are mothers. Probably before the baby was born they, too, believe they could never cope with a baby who was "different."

I didn't think I could be that mother. There was a time when I was thinking seriously of terminating the pregnancy, depending on what we found, if we found anything.

I'm glad I didn't. I don't think it was "more right" or "moral" or whatever. But I have Frances, the greatest prize I could have asked for. And I could not have imagined myself being a woman and a mother with a "different" baby who went to all these extra appointments and who worried desperately sometimes about what was wrong and investigated memberships in organizations for people who are "short" or who have "facial differences". I know this is not really comparable to the experiences of mothers who have disabled children. But I could not have imagined this life for myself, as relatively easy as it may be; I could not have imagined myself coping with these difficulties.

But I did.

Posted by Andrea at 11:33 AM | Comments (3)

Short Femurs and Ultrasounds

I was just looking over my site stats, and the highways and byways that people use to find my little home, including the search engines and keywords people most typically use. Shortly behind my name and a few fun terms like "embarassing photos" (yikes!), it seems most people end up here by searching for ultrasound terms, or short femurs. This makes me terribly sad. Sad because they are people, probably pregnant women or expectant dads, going through the same trauma I went through. Sad because they are probably looking for info to reassure or enlighten them. Sad because my experience with this is gone thanks to the first site crash (I have it backed up, but it's not online), except for google's cache.

I remember on the original site I actually had an expectant dad leave a comment on one of my entries about how much better he felt after reading some of my ultrasound entries because he and his wife had been given some bad news, and just the relief of knowing how low the risk was.

So I'm going to put up a few of those old back-dated entries here because I know how absolutely impossible it is to find some of this info, and to interpret it if you do. I spent almost all of my work time (don't tell my boss) for weeks researching ultrasounds and risk factors and short femurs and possible diagnoses and what I managed to pull together was still pretty sketchy. It shouldn't be that hard to find. Ideally doctors would be more forthcoming, but alas, I see no indication of that happening.

If you're here reading this because you have also had a big ultrasound or prenatal screening scare: Welcome, and my heart goes out to you. I know how awful it is. I know how you feel. I know nothing I say can make it any better. If you want to add a comment or a question please do. I'm not an expert, but I have learned a lot and I would love to share it.

So the next entry will be a short introduction to the whole messy story.

And then after that, a few old entries from the dark days of the Big Ultrasound Scare.

A good friend of mine is currently going through the same trauma as the result of a prenatal blood screening test. One of the things I've learned is that it's easy to be rational and calm about the true risks and results of those tests--until you get a positive. Nothing prepares you for it. If you're reading this, Pam, I'm thinking about you. Ask me any questions anytime!

Posted by Andrea at 8:55 AM | Comments (2)

Doctor Update

So, the doctor's appointment yesterday went fairly well. Thanks to ginormous quantities of pedialyte--I think she thinks it's kool-aid--she was no longer dehydrated. She's actually peeing at about twice her normal rate right now. She's a little puddle-maker.

But also still a little poop-machine, and we were informed NO DAIRY until it's gone. Nothing like getting to the doctor with your sick baby and finding out you were doing exactly the wrong thing for the last several days. The problem is, we're not sure if I'm dairy or not, so to be extra careful she's not getting any of the good milk right now--and man is it making her cranky. She was up for hours last night crying for it. :( Which not only means that I feel like shit on a stick today, but I feel awful (there's that pesky guilt again) for not going in to comfort her the way she wanted, even though I couldn't.

The good news is...she hasn't lost any weight. Officially. She's up 7 oz from her last appointment, about a month ago, which is a normal rate of gain for a small baby who isn't sick. She's 13 lbs 1 oz. Still ridiculously tiny, but after she puts back what she's lost and gains a bit more before her next "regular" appointment a month from now--who knows. She might have even caught up a little bit.

She's at home today with her Dad, who is not best pleased about the whole lack of sleep thing. Well do I remember the days when I'd get frustrated with her after being awake all night and he'd say something smug and superior about it. Now the shoe is on the other foot, and I'm not ashamed to say I gloat a bit. Internally.

Posted by Andrea at 9:24 AM | Comments (0)

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I used to think that the medical system here was just about perfect, before Frances. After all, I'm a type 1 diabetic and it's always done pretty well for me--doctor's visits covered, tests covered, I've never gone blind on a waiting list, etc.

And now I don't know how much of it is influenced by the experiences I've had with the ultrasounds, and her preemieness, and the geneticists, and the weight gain thing, and all the rest of that crap, but...

**I hate doctors.**

Even most nurses.

Today we thought Frances was feeling better so she went to the daycare. And the report from the workers there was good--she seemed fine, if a little tired. But who wouldn't be tired after 3 days of vomiting and diarrhea? But when Erik picked her up at 3, she was very tired and listless.

She fell asleep in the car (not like her) and stayed tired and listless all evening. Didn't want to eat. Her soft spot (which is still very big) was very, very soft--I could feel the sharp edges of the bone around it--which is one sign of dehydration. Anytime I brought a bottle or cup to her lips she just chugged it back, but her energy didn't pick up. She didn't want to play, babble or smile.

And then she threw up.

Everywhere.

She covered herself--she covered me--she covered Erik--she covered the couch--and she made two very large puddles on the floor, the size of a dinner plate. I don't know how that much food came out of such a small baby. I really don't.

So we all got changed and we gave her a bath and her diaper is only damp--I don't know how old it is b/c they might have just changed it before she left the daycare? But it's been over 3 hours and there's not much in it at all. And she's still listless and unhappy and now I don't know what to do.

So I call telehealth, our provincial health hotline, staffed by nurses. The nurse there says it sounds like she's dehydrated and we should give her 1 tsp of pedialyte (a rehydrating solution for babies) every five minutes until she is seen by a doctor in the emergency room.

So--off we go. Our first family visit to emergency. It's practically a rite of passage, isn't it?

We got there around 7 and did the registration thing, and they gave us another big bottle of pedialyte and told us to start her on it. She pretty much finished it over the next two hours.

And there we're sitting in this horrible little uncomfortable chairs waiting and waiting and waiting and getting tired and trying not to let Frances sleep because she's supposed to have the fucking pedialyte every five minutes until she's seen a doctor. At ten Frances falls asleep and we let her, and I ask a nurse how much longer it's expected to be--and she says--**hours.** Hours! With a little baby and we're supposed to work tomorrow, and for crying out loud, telehealth told us to go to emergency!

I said to her--"But ... we've been waiting three hours already!"

I don't know what I expected her to say. But I just found it unbelievable that we could actually be waiting in emergency for eight fucking hours.

So I went back to our seats and had a little hissy fit and we left. I mean--every five minutes until she's seen a doctor? WTF are they smoking? How are we supposed to do that if we have to wait minimum six hours to see one? Overnight, when Frances needs to sleep? Not to mention us.

So we left.

And yes, I'm a little paranoid now that maybe we should have stayed.

But there's NO WAY. That telehealth nurse was just smoking crack, obviously. Every five minutes until she's seen a doctor! Out of which medical text did she pull that gem?

So tomorrow I'm calling her doctor's office and I have every confidence that we will not have to wait eight hours to see him.

Hate hate hate hate hate doctors. hate the medical system. Hate hospitals. Hate it all.

Posted by Andrea at 10:56 AM

The Latest and Greatest from the Doctors

The geneticist's best guess is now Pyknodysostosis.

One link

Another one

But I don't know, I'm unconvinced.

For one thing, they've always been wrong before.

For another, it includes symptoms that Frances does not have--blue sclera (the whites of the eyes), wrinkled-looking fingers, bones with a tendency to fracture--as in, she should have had a fracture already. So. Skeptical.

I guess we'll find out in May for sure, but that's the latest 'diagnosis.'

It's not even that I disagree with them, per se. Short stature, low-set ears and a late-closing fontanelle do seem like an awful lot to be just a coincidence. But it's hard to maintain one's faith in the medical establishment when they keep fucking up in such a spectacular fashion.

Can I just say, as an unrelated aside, that I am really, really hating the whole idea that moms should be perennially happy people right now?

Really hating it.

And as I said, it's unrelated. I don't care what fancy latin label they pin on my little girl at this point; it's so obvious to be and to everyone else that she's healthy and normal in every other way. So she'll be riding in the infant seat until she's 6. This is annoying, but in the large scheme of things, not all that important, and it's not depressing me.

The idea that my kids will be permanently psychologically scarred if I allow myself to be human and get pissed off or depressed once in a while, though. That is depressing.

Posted by Andrea at 2:54 PM | Comments (0)