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May 17, 2005 Here We Go Again 
My first thought, after we met the genetics counsellor and the skeletal dysplasias expert, was that for the Foremost Expert in Skeletal Dysplasias in Canada (and Switzerland) she is very young. She doesn't look any older than 30 and I don't think it's possible that she's over 40. But the important thing was that she and the counsellor were both very forthright and kind people, who obviously deal with this kind of thing a lot. No mumbling about her "unusual features" or how her eyes are "strange." We went prepared for the whole day, not knowing what to expect. We brought two snacks, lunch and supper, and a drink each of milk and juice for Frances, plus a whole bag of toys and books, and four clean diapers. Also some baby tylenol because overnight all four of her canine teeth broke through (all four! No wonder she's been having such a hard time sleeping, poor tyke). As it turns out, we didn't need them. But we did need the Duck. The trip down was horrrendous. Over an hour stuck in traffic on the DVP. Then Erik went right to the hospital building, even though genetics is located across the street. We left home at 7:30 and got into the office right at 9:00, registered and sat down to wait. It wasn't long. Just a few minutes past 9:00 and we were all sitting in a counselling room with lots of chairs, a table and a prominent box of kleenex. Which of course Frances immediately moved to destroy, so we put it out of her reach. We spent almost an hour talking to them first. They got her medical history so far, asked about things like if we noticed her joints being loose or if she'd ever had to be hospitalized. They looked over her growth measurements (I brought them in) and her photo album (I brought that too--I have some experience with genetics appointments, you see). Then they took all of her measurements. On their scale she's only 65 cm (25 1/2"), but she's 6.5 kg (over 14 lbs). So take a few ounces, lose an inch, I guess. If I could take that weight and put it with the lengths we get at her pediatrician's, she'd be a much more impressive-sounding baby. One thing I've learned through this whole process is that measuring babies is not a precise science. This process was not something that Frances enjoyed. We got lots of big heaving sobs and fat tears. It's a good thing we brought that rubber duckie. And what was the upshot of this whole thing? . . . . . They're not sure. But they think it might be Three M Syndrome. Mostly because she is very short and her fontanelle is closing slowly. This condition is very rare. According to my quick web search, only 40 individuals with it have been described worldwide since 1975. And she's not convinced, even so (I guess it's hard to be an expert in something so rare). But there's a group in Paris (France) doing some research on this condition and trying to find the gene, so what they're going to do is send them her information, photo and some of the stored dna sample and see what they think. I don't know what they'll do if the Paris people decide she's not a Three M Syndrome case. The doctor said she didn't want to "overcall" it because the findings were very subtle; but every other thing she had been thinking of prior to meeting Frances involved some other problem (health- or intellect-wise) which Frances does not have, so she thinks Three M is the most probable bet. But she's not convinced. It will be months before we find out if they've even decided to accept her blood sample, and it will be years before we hear anything definitive, if ever, because they haven't found the gene yet. Months. Years. I hate this. In the meantime, I don't know what we're going to do. It's not Frances's health. That's not going to be affected in any way. Her final adult height wouldn't be much more than four feet, even with growth hormone treatments, but other than that she should be healthy and happy and all those other kinds of good things. No. This is a much more selfish reason. The thing is .... Three M Syndrome isn't spontaneous, like achondroplasia or Downs. It doesn't "just happen." It's inherited. So if this is what it is--then Erik and I must both be carriers. And if that's true, then any children we have in future would have a 25% chance of having Three M again. And a 50% chance of being carriers themselves. And if we're carriers, then our siblings might also be carriers. Their kids might be carriers. My cousin who has a tiny little girl too--she might be a carrier, her daughter might have it. If it's Three M Syndrome, it could spread out and affect everyone in both of our families. If it's Three M Syndrome, I don't know if Erik and I will have another baby. I want them to be wrong this time. So badly. Posted by Andrea at May 17, 2005 12:20 PM under Doctors, Geneticists and Other Charlatans , The Merry-Go-Round , Tuesday Tear-Jerkers EMAIL this entry (comments fields are below this section) Comments Oh andrea. (((((((((((((((((hugs)))))))))))))))) Sweetie, if I could give you anything in the world, I would give you closure. How frustrating. I really feel for you. I cannot imagine the frustration you must have right now - not knowing whether it *IS* this, whether you are carriers, whether you could/should have more children.... Honey, I wish I could just have all the answers, and I wish I could be there to just hang out and let you vent in person. Frances is an adorable, beautiful baby, developing normally, and obviously so very smart. I know it is frustrating to you. I wish I could help in some way. ((((((((((((((((((many supportive hugs))))))))))))) Posted by: rachel at May 17, 2005 1:07 PM
My thoughts have been with you all day. What a lot you have to think about; and you are so brave and eloquent about distilling here. I've heard it said and often repeat it myself: blogging makes you care about people you don't even know. I care about you and Frances, and know that for every awfully hard post like this to write that there will be a mention of the dizzyingly happy times coming up soon too. Josephine is waving at Frances' picture right now, and when we look at her, we just see a giddy, happy, smiling, beautiful girl. Without knowing thing one about how to deal with any of this, all I can say is that I admire your strength and dedication. Posted by: Marla at May 17, 2005 1:35 PM
(o) Your wee one is so happy and beautiful. You'll think it all through and make your decisions about the future when you're ready. In the meantime, take care of yourself, ok? Posted by: Phantom Scribbler at May 17, 2005 4:00 PM
Oh Andrea I don't know what to say except I'm praying for a good outcome for you (and I never pray), or at least some resolution. You are brave and you're a great mom, hold in there. Posted by: Jennifer at May 18, 2005 12:23 AM
Andrea, Posted by: yankee transplant at May 18, 2005 10:51 AM
I'm so sorry you are going through such a frustrating time right now. If you ever need a pitstop near hospital row, email me. I sometimes wish that doctors would just admit that there is a lot they do not know and would admit to it and give you closure by telling you that Frances is a petite, sweet, ducky-loving, happy, intelligent, bubbly little girl and send you home reassured. IMHO, the correct latin diagnosis is pulchrum donum or beautiful gift. Posted by: Jen at May 18, 2005 12:47 PM
Thanks, everyone. I had a funny feeling we weren't going to get closure, so it's upsetting, but not a terrible shock. I appreciate all the kind words. Posted by: Andrea at May 18, 2005 12:52 PM
Big hugs to you and to your little sweetie. Posted by: liz at May 18, 2005 1:36 PM
Sigh. I wish I had some words of wisdom or something hopeful to say, but I can't think of anything except a heartfelt sigh. Frances is lucky to have such an extraordinary mom looking out for her. Posted by: Danigirl at May 18, 2005 2:08 PM
BTW...this line: "...a drink each of milk and juice for Frances..." Made me think of the book Bread and Jam for Frances. Do you have it? It's a good one. Posted by: liz at May 19, 2005 2:43 PM
Oh, Andrea, that's so hard. A while ago you posted about being able to empathize with others, even if they aren't in the exact same boat. And I wanted to tell you, as someone who has one foot in your boat, being that my fiance has Cystic Fibrosis, and we have not decided what to do about children yet, that I am 100% behind you no matter what you and Erik do as far as having more children. And also, yes, that everyone is right - whatever the doctors do or don't diagnose her with, Frances is still just Frances when you get right down to it. I'm not a parent, and I know that I have no understanding of that. But I do know what it is to love someone with a genetic disease, and how scary it can be. Happily, it didn't look like that info about Three M Syndrome mentioned any sort of truncated life span, which made me sigh in relief. I wish I knew how to express what I want to say better; I guess it just boils down to that I'm thinking of you and your family, am grateful that Frances has such a caring Momma, and if you ever want to talk, please don't hesitate to email me. Posted by: Abbey at May 20, 2005 3:19 AM
Liz: Yep, we do. Strangely enough people have been gifting us with books from that series since she was born. :) And thanks to everyone who posted such supportive words. I really appreciate it. You are all right: Frances is a beautiful little girl whatever label the doctors stick on her. Posted by: Andrea at May 20, 2005 6:11 AM
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