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October 18, 2005 The World's Best Baby Ever, Bar None, Stumps the Medical Profession 
After a brief examination and a series of questions, the exact words out of the specialist's mouth were: "She's really small, and we're not quite sure why." Maybe I should quit my day-job and become a psychic. Or a geneticist. The day started promisingly with a 1 1/2 hour drive through heavy rush-hour traffic to get to the hospital. Have I mentioned that Frances is the World's Best Baby Ever, Bar None? Would you believe me if I said that she sat calmly and quietly in her car seat the whole way? I turned on Philedelphia Chickens and she said "music! music!" and made her teddy bear dance, clapped at the end of each song, and read her books happily. Meanwhile Erik and I are getting more and more frustrated as we inch along the highway. She graciously accepted all compliments directed her way between the car and the doctor's office ("she's so cute! how old is she? oh, look at those eyes. my, she can really move!"). She demonstrated her voracious appetite by eating four arrowroot cookies and a handful of cheddar-gators (a type of goldfish cracker, but for toddlers) during the appointment. She chattered non-stop and made the frog and the teddy bear lie down and sit right-side-up, demanded the door be opened, asked to get up and then down from the chair at least a dozen times, and in general made herself a charming and obviously intelligent and capable little patient. Meanwhile, Erik and I got some answers to all but the most important question. That being: Why the hell is she so small? The medical establishment shrugs its collective shoulders, apparently. But to answer the rest of them: 1. Definitely not 3M. The fancy-pants lab in Paris also responded and said they don't think it's likely and don't recommend tested her genes for it. 2. It could be some funky recombination of our collective familial short genes, but there's no way to be sure and no way to explain why she seems so much shorter. 3. If it's not 3M, they really have no idea how tall she's likely to be as an adult, but we can take her back when she's four or five for a bonescan that will give us an estimate, if we really want to. 4. If we want, we can have a referral to an endocrinologist who can discuss growth hormone therapy with us. I said that from my reading it seemed very controversial, and that there was no way to be sure that it would do anything in the absence of a deficiency in growth hormone, so at this point I'm not interested. She agreed with my assessment on that and said she wouldn't recommend it, but we can do it if we want to. She also said that it's very unlikely to be a problem with growth hormone as kids with growth hormone deficiencies are not born short--and Frances was, at a very petite 15". 5. They said that, of course, without a definitive diagnosis giving a risk for recurrence in future pregnancies is not possible, but that the worst case scenario would be 25% (if it's recessive). Also, if it's recessive, they would not expect any future affected siblings to vary substantially from Frances--apparently with recessive conditions siblings tend not to vary much, if at all, in the severity of their symptoms. And while dominant syndromes vary quite a bit, we would not have any higher risk of recurrence for that than any other couple would have. So that's good to know. 6. Frances's newborn x-ray did not show any problems with bones that would preclude any normal childhood activities. She is cleared to ride roller-coasters, provided she grows tall enough. That is a tremendous relief. 7. There's really no reason to see them or any other geneticist again, unless we want to, because they're all pretty much stumped and expect to remain so. At this point, it seems they just really have no idea what it could possibly be. Her bones show no abnormalities, so it possibly is not any kind of skeletal dysplasia; she shows no symptoms of any other syndromes that would make children so small--no health problems, no developmental problems, no characteristic features or findings. The doctor even said it's possible that she is an unexplained case of intrauterine growth retardation that does not demonstrate catch-up growth--this does apparently happen on occasion, and normally does not have a late-closing fontanelle, but at this point anything is possible. Also! The news you've really been reading this for: She is 7.26 kg (16 lbs) and 70 cm (27.5"). That's two inches and 1 1/2 pounds in five months, which is not bad. Not bad at all. She's still tiny, but no more tiny than she was, if that makes any sense. I'll add a revised growth chart today if I get the chance so you can all see her fabulous little growth spurt in technicolour. Last time we went, when she measure 25.5", I was sure she'd be 26.5"--she seems to undermeasure other doctors by about an inch, so I was positive Frances wouldn't be more than 26.5" this time. 27.5" was a very, very welcome surprise. Posted by Andrea at October 18, 2005 11:39 AM under Doctors, Geneticists and Other Charlatans , The Merry-Go-Round EMAIL this entry (comments fields are below this section) Comments You truly are psychic! I'm glad that she'll be able to do all the activities she wants to do. She is truly the WBBE,BN. Posted by: liz at October 18, 2005 12:15 PM
You know what they say,,,,amazing things come in small packages!! And she is too darn cute to boot! Sorry you don't have any difinative answers. I'm glad you are seriously looking at the side effects of growth hormones. Always ask questions. And I love, love, love rollercoasters and hope that someday I get to ride one with Frances and Emma Sage!!!! Posted by: Tara Marie at October 18, 2005 1:10 PM
I'm glad you are finally getting off this roller coaster. If everyone says "we don't know" then that's that. It's frustrating to have to have endured the "somethings wrong" for so long, when really it's just "something is different" as opposed to wrong. Frances really is a wonderful baby! I am constantly amazed by the stories of her behavior (and I've seen it all in person, so I can vouch for her being WBBE,BN). So not only is she adorable, she's brilliant, well behaved, and has nothing but a bright, positive future full of rollercoasters and high heels, should she want them! Posted by: Rachel at October 18, 2005 1:26 PM
So - the prognosis is ??? Posted by: gawdessness at October 18, 2005 2:35 PM
Wow! She has grown a lot recently! I hope there will be more of the same to come. Posted by: Songbird at October 18, 2005 3:31 PM
Yes, you are psychic! Or, more likely, you know your WBBE, BN better than anyone else. So glad to hear that she's cleared to do all matter of boneshaking things such as rollercoasters. That must be such a relief (not just for rollercoasters - not having to take extra care of her bones etc.). 1 1/2 hours in the car in the rain, and no complaining? She is well acronym'ed indeed! Posted by: Genevieve at October 18, 2005 3:34 PM
WBBE,BN AND a genius! And totally adorable, and perfect. What a package! Posted by: yankee transplant at October 18, 2005 3:43 PM
Well, they do say no news is good news! Maybe one day she'll just shoot up and surprise you all! Or maybe she'll stay the small, yet wonderfully amazing person she is! She has a light all her own and that's all that matters! Posted by: CJ Field at October 18, 2005 3:49 PM
Diagnosis: Perfect. How else to describe her? Posted by: Amy at October 18, 2005 3:59 PM
Well, I certainly understand the frustration of not knowing and not being given some definitive answers (we were in that boat for quite some time with Anni's elevated enzymes post-transplant). However, you are always so quick to point out all the positives and all the progress Frances is making in all areas, even growth. So I guess congratulations are in order for you two as parents for being able to absorb the unknown and move forward anyway. Frances sounds like such a perfect baby - all happy and cuddly and wonderful. So congratulations on that front, as well. Posted by: moreena at October 18, 2005 4:09 PM
Hooray for Frances, WBBE,BN! And hooray for her awesome growth spurt! Posted by: Phantom Scribbler at October 18, 2005 6:42 PM
Thanks, everyone. :) Posted by: Andrea at October 18, 2005 6:55 PM
Just what I was hoping to read - she is as perfect as you knew all along. I must ask though, is she ever not happy?? Posted by: nancy at October 18, 2005 10:57 PM
Nancy--yes. Briefly. She'll be unhappy for little three second spurts now and then, if she doesn't get something she wants. But it's usually just a single whinge/grumble combo, and then she moves on to something else. Unless I'm combing her hair. She's really not a fan of that. Posted by: Andrea at October 19, 2005 6:28 AM
We must, at some point, see how adorable Frances is when she is haircombing peeved. Considering how cute she is in her natural state, grumpy Frances must be delectable. I'm so glad to hear that she is perfect and petite, as we suspected. What a sweetheart! Posted by: halloweenlover at October 19, 2005 8:42 AM
I'll add again to the chorus of many congratulations! Posted by: Running2Ks at October 19, 2005 9:48 AM
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