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October 18, 2005

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

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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)


October 6, 2005

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

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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)


October 4, 2005

Do I know how to call it, or do I know how to call it?

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I received a reply to my email from last week:

"I have been in touch with Dr. UVW who informed me that she had spoken to one of the authors of a paper on 3M syndrome, and he said that he thought that 3M syndrome was quite unlikely. However, Dr. UVW asked me to forward some photographs of Frances so that she may show the lab that is doing some molecular testing for 3M syndrome to see if they'd be willing to undertake testing on Frances, or whether she really does not fit."

I knew it!

I'm not sure how to phrase my reply. We'll see how this goes.

Posted by Andrea at 10:54 AM | Comments (7)


October 3, 2005

Eugenics and Family Planning Part II

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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)


July 6, 2005

Don't mind me, I'm just thinking a-print

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There is one sure-fire way to prevent anyone from commenting on a small baby's size (that doesn't involve lying about their age): Preempt it.

"She's 18 months old," I say.

"Oh," they reply, struggling for appropriate words.

"Yep, she's tiny," I say. And that ends it.

But it's not such a good idea, is it? I mean, Frances is a bright kid and she can understand almost everything I say these days. ("Stomp your feet!" and she stomps. "Thump your feet!" and she thumps. "Can I have a kiss?" and she kisses. "Where are your fists?" and she makes fists.)

Does she really need to hear me preface all of her introductions with a commentary on her size?

Probably not.

So: Do I just stop and hope that other people won't just fill in the gap for me? That doesn't seem good.

I need a strategy for dealing with this that shuts other people up and respects Frances's personhood and intelligence. As of this point, I don't have one, but I'm working on it.

At least people have stopped asking me how many days old she is (this was a popular question for her first six months or so).

Also:

I know I have a lot of time to think about this, so worrying may be premature. But I am the kind of person who takes a long time to come to a decision on where to eat lunch, so this one really needs all the prep time it can get.

Originally I was going to try to space the siblings about four years apart. Frances is 18 months. So we'd have about 18 months, give or take a few, before we originally were going to start trying again (don't tell Erik, he doesn't know he's made up his mind yet). I was thinking maybe even a bit sooner, maybe when she was about two and a half, which would give us a year.

A year is nothing like enough time to find out about this whole 3-M business. So whatever our decision is, it's going to have to be made in near ignorance.

Can you guess how much this bothers me? I'll give you three guesses.

More. More. A bit more than that even.

I am being pulled in two by two separate trains of thought:

1. "Frances is a wonderful baby. She's small, but she has no health problems. You should be so lucky as to have another baby just like her. Calm, sweet, loveable, bright, beautiful. What's not to love? Who cares if a sibling has the same whatever-it-is? You'd know what was going on, so it wouldn't be as terrifying, you could keep the doctors off your back. And even if it's hereditary chances are 75% that a sibling wouldn't have it. Right? Wuss!"

2. "But then what if whatever-it-is isn't 3-M and Frances has a very mild version of whatever-it-is? What if there normally ARE huge health or developmental problems that we just fluked into avoiding with her? What if her sibling is sick or is much smaller? And besides--I also have type 1 diabetes and severe allergies and asthma, three other things known to have genetic components. Maybe I shouldn't be so eager about handing my genes down. Maybe I should give up on the pregnancy-and-breastfeeding thing and adopt."

1. "That sounds a lot like buying into arguments about genetic purity and superiority. Genes have no values. What is seen as a 'problem' or 'syndrome' could be a valuable adaptation in another niche, you know. So what if your kids have a funky little mutation somewhere on their genome? Does that define their quality of life, their right to live, the value they bring to the world? No!"

2. "No, it doesn't, but it makes their lives harder. Frances is beautiful and perfect, but I know she's going to have a harder time in life than an 'average height' peer. The world isn't built for her, it's not ruled or peopled by folks like her, and it's going to hurt sometimes. Is it right to bring another child into the world, knowing in advance of the struggles they might face? And especially when I'm doing it for me--because I want to be pregnant again, because I want to breastfeed."

So one train is heading east, the other's heading west, and I'm stuck in the middle trying to keep both of them in the station with dental floss.

You can see how a year might not be enough to figure it out, especially with the big question hanging over our heads: What if it's not 3-M?

It could be something else that's not hereditary. It could be something else, that is, and is easier. It could be something else that is normally much worse. And even if we have another child and this is all moot because they're a normal size, that doesn't mean something else won't go wrong--it doesn't mean lightning can't strike twice and child #2 won't end up seriously sick.

Once you've been hit once, discussions about "likelihood" and "statistical probability" don't do much to calm one's fears.

Add to this that I don't know much about adoption, either, except that our local CAS only does adoptions for kids with special needs over the age of two. I don't even know if I can adopt, given the diabetes (I know they want adults in "general good health"--I don't know how chronic illnesses like diabetes figure into that determination).

Posted by Andrea at 12:33 PM | Comments (11)


June 27, 2005

Joiners

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I am biting the bullet and signing Frances up for the Little People of Ontario (LPO).

This was something I looked into when I was pregnant and was told Frances might have achondroplasia. As it turned out, she didn't, and then we went through the medical merry-go-round of Guess What Diagnosis Frances Has This Week, so I didn't think about it again for a long time. But if the medical experts are of the opinion that her adult height will be somewhere around 4' or maybe a bit over, and if her current height is comfortably on the achondroplasia ("true dwarfism") growth chart, then she definitely qualifies as a Little Person.

I've signed up for an on-line group called Parents of Little People, which is for parents of kids who have various kinds of genentic syndromes resulting in short stature and they have lots of good things to say about these groups and the opportunities that membership affords their children (camps and activities, and hanging out with people their own age who have similar issues, and so on). So LPO, here we come.

Posted by Andrea at 1:11 PM | Comments (4)


May 18, 2005

Perspective

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Yesterday after I found out this disorder is autosomal-recessive (inherited), I thought--thank the gods I'm not pregnant right now. Having a type-1 diabetic pregnancy was difficult enough. Having a type-1 diabetic pregnancy complicated by the possiblity of a genetic condition with a 25% chance of recurrence would just have been too much. Even thinking about it right now is overwhelming.

But there it is, a bit of positive thinking: I'm not pregnant right now, thank god. And it won't affect Frances's health or life possibilities. If it is Three M, and it's autosomal recessive, if she ever has kids they will definitely be carriers but unless she is with someone who's a carrier, they won't themselves be affected. You never know: in a few decades they might be able to do so much more for genetic conditions. She might have options that aren't even on the radar screen right now.

This is my version of positive thinking: realistic.

I don't find any comfort in telling myself pretty lies, because I remain too conscious that they are lies. It would not do me any good at this point to tell myself that it's "probably nothing." No; she has some genetic condition. I know that. I don't know which one, though we now have this new Diagnosis Du Jour. It has its pluses and minuses.

The biggest plus of all is, of course, Frances herself. She is such a great person. Five hundred pounds of cuteness packed into a compact 14 pound body. She has recently learned how to say wow, yes, no and more. She says yes like Mooch the cat from the comics: yesh! No is always accompanied by a little head-shake, for emphasis. More sounds like Moe, and is usually said in reference to bananas or milk. She is such a little picture, sitting at the table pointing to the empty banana skin, saying "Moe! Moe! 'nana."

She is snuggly and warm. Yesterday at the doctor's office she sat quietly on my lap, leaning against me and resting her head just below my collarbone. I wrapped my arms around her and kissed the top of her head.

She also says "mole." Yes, as in those brown raised things on your skin. I have a large one on my arm she is fascinated with. She pulls and picks at it, sometimes causing it to bleed, saying "mole, mole, mole" all the while. It's painful, but funny.

I would not trade her for a boatload of "normal" babies. She is adorable and perfect and beautiful just the way she is. I ask myself sometimes if I'd trade her for a version of herself without this condition--and the answer is still no. Because it really wouldn't be her. Would she be so shy and solemn and sweet if she were a big Bruiser Baby? I doubt it.

It's also tempting to tell myself sometimes that we would have done better if she were born in the days before genetics counselling, when she would have been "small" but there would not have been this push to get a label on her. But even that's not so. Go back far enough and I would have been pressured to leave her in a field to die, so I could quickly bear some other more physically normal baby; but the world would have lost out, never to have such a loveable and caring person in it.

More recently, something like what happened to my Great Aunt Hannah could have happened; she was sterilized by the government as a child because she was "too small to bear children." I never have to worry about that. And neither does Frances. Her body will remain under her control.

Even more recently, her life chances would have been severely compromised because a woman's goal was to get married and have children; and being "different" always makes that harder. She would have been a disappointment: A bright girl, sure, but who wants bright in a girl? What you want is pretty and obedient so you can marry her off properly and get grandchildren.

Fortunately, today, her bright mind and sweet personality will count for much more than her small size. This is a good time for her to be alive, and it's a good time to be her mother.

But it's still hard. It's hard to worry and wonder; it's hard to deal with fish-eyes I get from other people who are tempted to play Good Citizen and rescue this poor unfortunate and obviously malnourished baby from her abusive mother. It's hard to have no idea what to expect--will her growth speed up, stay the same, or slow down even more? It's hard to have to think about things like how I'll talk to her about this one day, how I'll help her develop a solid sense of her own worth, how I'll encourage her to maintain her sociable and loving nature in the face of what I'm sure at some point is going to be vicious playground attacks. And I'd rather acknowledge and work with how hard it is than paper over it with false brightness. Not because I'm some kind of irreedemable pessimist, but because I think it's better. It's more productive, and you grow more.

When I converted (in a manner of speaking) from fundamentalist christianity to wicca, one of the things I left behind was evangelism. Unlike Phantom Scribbler's Miserable Missionary, I don't want to make my faith a matter of public viewing. And ok, that is partly because there are still idiots around who think that "suffer not a witch to live" is a perfectly reasonable statement; and partly it's because I get sick very fast of playing teacher to people who want to know all about it without, say, picking up a book. But it is also in large part just a fact that other people have their own way of relating to the Universe and finding meaning in their lives, and I respect that. Not everyone is meant to be a witch. A statement of the blatantly obvious.

So the influence my beliefs have on my approach to life are not very clear to others; but this is one of those areas. I do not believe that destruction is inherently bad. I do not believe in running away from fears, or pretending that a problem is an opportunity. I believe in staring it square in the face, and dealing with it. I believe in letting pain hurt.

This should be such an obvious thing, shouldn't it? But it seems people spend a lot of time convincing themselves that their pain doesn't hurt, not really, because it isn't real pain or it could always be worse. Or that because it's part of God's Plan it actually feels good. I don't know what that accomplishes, besides ulcers and guilt. I believe in letting pain hurt. It doesn't last forever. And you learn what you can handle; you grow.

It's possible to do both. Put your pain in perspective, acknowledge that on a global scale of 1-10 it's probably a 3, but still let it be pain.

I do Tarot readings for myself sometimes. I realize that this is not standard practice, but it's very effective. Even when I get a gibberish reading, if I look back at it a few months later I'll see that it was true. It was good advice, and a decent forecast, but I couldn't make heads or tails of it because it wasn't what I expected to happen. I have no theory for why or how Tarot works for me; maybe my subconscious knows a lot and manipulates the cards to get a good reading; maybe I see what I need to see and the cards don't matter; maybe there are little gremlins in the deck who arrange things; maybe Hecate works things out. I don't know, and I don't think it matters.

For some reason, when I do readings, I get the Tower card an awful lot more than one might expect. The Tower represents cataclysmic change. Something you value and love is going to be destroyed to the foundations in order to allow for the building of something even stronger and better on the ruins. It is going to happen, whether you like it or not. You can accept it, and start to rebuild; or you can fight it, and try to buttress that tower up for as long as it can stand. Either way, the Tower is coming down.

I've now seen this card often enough in readings, and experienced it often enough in life, that when I start to sense the Tower coming down, I stand back and let it fall. I used to try furiously to prop it up; but it never worked. And not only did it not work, but all I would do is hide from myself any potential there was for learning or growth in the situation. Instead of a new, beautiful tower, I'd end up with some crippled half-fallen relic.

I understand this is an approach to problems that makes many people highly uncomfortable. The generally supported response seems to be The Silver Lining. Why, my tower's not falling down; it's just a handy-man's special. A bit of crazy glue and a few planks of lumber and it will have more character than ever!

The Silver Lining is appropriate to many situations, and many people find it a great approach to their lives. But I've read Candide and I agree with Voltaire that not all things are for the best in this best of all possible worlds. when people tell me (or insinuate) that I should 'look on the bright side,' I get irritated. Anyone else is free to spend their lives that way, but not to preach at me about it. Also, I feel a bit sorry for them. I refrain from preaching at them in reverse, or try to, but by and large I don't understand how one can go through life pretending that bad things are good and not end up stark raving mad.

It comes down, I think, to a fundamental difference to the largely Christian values our society has, and my own Wiccan values. Christianity says JOY--be happy, be grateful, things are good. Deny your negative impulses and your dark side. Confess to them, but deny them. Keep it hidden, under wraps. Let your light shine. Christianity says, Look On The Bright Side. Remember, I was a christian for 17 years, and a very devout one, so I do have some basis for these comments--but yes, I understand this does not represent ALL christians or all christian theology, and it's been deeply and badly coloured by my experiences in the church in which I was a member.

Wicca says, where there's fear, there's power--so find your fears, and face them. Wicca says--we all have a Shadow, a darker version of ourselves that we keep hidden from the world, where we keep our baser impulses, our unkind thoughts, the parts of ourselves we think are ugly or wrong. And because we are afraid of our Shadows, and afraid of our Shadows being seen, they have tremendous power over us. There is also a lot of strength in our Shadows because some of the things we hide aren't actually all that bad--only different.

The difference is, I think, that Christianity argues that Good is Good, and Bad is Bad, and never the twain shall meet--keep yourself above it, be untainted, don't let the bad of the world touch you. Christianity argues that everything that happens is part of God's plan, and God is good, so ultimately everything that happens is good (or at least has some purpose). Whereas Wicca argues that good and bad are both intrinsically necessary to life, and that death and destruction are not only necessary, but sometimes beneficial. But it's still death and destruction, and it's up to people to find or make meaning from their experiences. It argues that people need to acknowledge and integrate the darkness in themselves and in the world to be whole, and to be strong.

As an example, there is a ritual in Reclaiming Wicca (the trad I'm mostly closely aligned with) in which one enters a trance state and greets the four directions. While one does so, one tries to be open to a sense of fear coming from anywhere in particular (keeping in mind this is all a mental exercise). If one senses fear, one turns in the direction it's coming from--and walks toward it.

It's become a general approach towards life for me, as I would argue any real belief system would. When something scares me or causes me pain, I turn to face that direction and walk towards it. I've learned that it won't go away until I do, until I face it down. And I've learned that it won't blow those problems up to the size of the Rocky Mountains; on the contrary, I end up seeing how big they really are, and usually, they're not that impressive close up. Whereas if I Look On the Bright Side, and pretend those problems aren't there, they grow to the size of solar systems. On the surface I'm bright and shiny; just underneath I'm a gibbering mess, wondering "what if."

I think a lot of the time, when other people tell you to "be happy" or "look on the bright side," it's very selfish. It has nothing to do with our happiness, and everything to do with their comfort. They don't want to witness the pain because it makes them uncomfortable. So when they say you're being too negative, or it could be worse, or don't you understand that some people have REAL problems, what they mean is--shut up and keep it away from me.

In any case:

If someone is reading this and waiting for the Epiphany, the part where I talk about how God has a plan, and He has blessed us with this Special Child, and I'm so glad He entrusted her to US because some other family wouldn't care for her properly, and all things work out for the best in this best of all possible worlds.... I'm sorry, but you have the wrong blog.

This has nothing to do with God's plan (or the Goddess' either, for that matter). A sperm met an egg, and that was that. Our little eggie survived and grew, and was born, and is now the World's Best Baby Ever, Bar None. But I believe that it was chance that brought her to us. There's no big Lesson to learn--the Universe is not a sadistic homeroom teacher. I can learn from this, and I can grow (and I will, as much as I can), but that's not "why she's here." She's just HERE.

She's here; and she's loveable, beautiful and perfect. She is my life. I love her more than anything. The good she has brought me so overwhelmingly outweighs the bad; but it's no use pretending there's no bad. Dealing with this has been hard, and it hurts. It's going to keep being hard and hurting in various ways for a long time. But it was only by acknowledging that--by staring straight at it--that I was able to see that on a Global Scale of suffering from 1-10 where the Tsunami or a nuclear bomb is 10, we're at 2, or maybe 3. No; probably 2.

I do not grieve Frances. I celebrate her, daily. But when we started this medical merry-go-round, the Tower did fall down again. And here I am, still puzzling over blueprints for a new one. I do grieve for the lost expectations, for the way I thought things were going to be. I grieve for not having any expectations to replace them with.

But because I stared it in the face, I can see that it's a fair price to pay for winning the Baby Lottery. More than fair; it's a bargain.

Posted by Andrea at 1:42 PM | Comments (4)


May 17, 2005

Here We Go Again

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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

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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)


March 10, 2005

Ultrasound post from November 28, 2003

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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

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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

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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

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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)


February 19, 2005

The Latest and Greatest from the Doctors

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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)