a garden of nna mmoy: 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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October 6, 2005

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

Well, that’s cheery, Andrea.

Email #1:

Hi M*,

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

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

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

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

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

4. This is a long one:

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

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

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

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

Does that make any sense?

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

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

Thank you,

Andrea

Email #2:

Hello,

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

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

Sincerely,

~~~~~

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 October 6, 2005 10:08 AM under Doctors, Geneticists and Other Charlatans , The Merry-Go-Round

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Comments

Wow, what an extremely well-thought-out set of questions you have asked there. I hope you get at least some of the answers you seek.

Posted by: Chris at October 6, 2005 11:20 AM

You are so organized and brilliant. Like all your (Frances') fans, I'm hoping you have some answers after that appointment. I feel sure they will tell you how absolutely adorable and obviously way too bright she is! You are a wonderful advocate for the little angel.

Posted by: yankee transplant at October 6, 2005 11:37 AM

Hm. How frustrating, but at the same time, that's great that you could get an appointment. I'm guessing that the additional benefit to you (in addition to not having to make phone calls while at work) of having the conversation over email is so you have a paper record, and can have a more thoroughly thought out response/discussion. I know personally I feel more comfortable when I can think things through, and I can imagine the same holding true for you, especially for as major a discussion as this.

How long of an appointment is it? I think it's great that you do have one, and it's a relatively soon appointment. I would print this email out and make sure the questions do get answered point by point.

GOod luck, I'll be thinking of you on the 18th. Let us know how it goes.

Posted by: rachel at October 6, 2005 12:50 PM

wow...how great that you got an appointment with such short notice...i know how long you've waited in the past. i so hope you get your questions answered.

Posted by: Tanya at October 6, 2005 1:33 PM

My fingers are crossed that you at least find out:
a) can this happen again, and
b) how many normal activities Frances can do

I hope your mind is at ease soon!

Posted by: Running2Ks at October 6, 2005 1:37 PM

We shall see!

Posted by: Andrea at October 6, 2005 2:02 PM

Hey, that's my second wedding anniversary! I'll keep you in my thoughts!!

Posted by: CJ Field at October 6, 2005 4:04 PM

Oh, how fabulous to get some real answers. I am so happy that you got an appointment. I'll be waiting to hear the news.

Posted by: halloweenlover at October 6, 2005 4:55 PM

Well, I hope the appointment goes well. I know I am cynical, but my experience with doctors is that they don't like to do much over email,except the most cursory stuff, because they don't want anyone to have anything in writing from them, that might turn out to be wrong. I'm not saying this is wrong-- doctors get sued a lot, and they should look out for themselves. My other experience with doctors is they like to brush aside questions if they don't know the answer to them, and that they do this by trying to make you feel stupid.
From what I read of your blog, I know you wouldn't allow that to happen. And I'm sure you've thought about all this too.
All this just to say: Give them hell, Andrea. Get the most out of them that you can. We'll be thinking of you.

Posted by: Amy at October 6, 2005 5:01 PM

Mmm. I see I'm the most cynical one here, since I have absolutely no faith that we'll accomplish anything in this visit.

My prediction is:

1) There will not really be a new diagnosis, but they may find one beforehand just so they have something to talk about that I can't prepare for.

2) They will say that she's much too much too small for there to be "nothing wrong," so they will once again gloss over the family history without explaining why it is exactly that it's impossible for Frances to have been hit harder by whatever it is that's already in our family trees making some of us so short.

I really have no faith in this process, but I feel like I can't just cut us out of it because one of these days someone might actually feel like giving us some real answers, and when that happens I want to be there.

Posted by: Andrea at October 7, 2005 7:18 AM

Well, I wish you luck, no matter what! I'll be thinking about y'all.

Posted by: victoria at October 10, 2005 11:00 PM

Go Berserk