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Wednesday, June 6, 2012

In Limbo

Tomorrow we go to the geneticist. I am not expecting to get anything concrete at this appointment, but I do think we'll go away with our hunch at least unofficially confirmed. We think Belalu likely has hypochondroplasia. It is considered a "milder" form of dwarfism and is therefore not usually diagnosed right away, since the symptoms develop as the child ages.
At six months

Belalu a couple weeks old and finally home
At three months
At her nine-month well-check visit we saw a substitute pediatrician, because there is only one ped right now at our clinic, and she is out on maternity leave. The sub checked out her growth chart, and her height and weight have been steadily declining on the growth curve, while her head is increasing. So, with the same nonchalance as if saying, "she has a little cold," he said to us, "she has some characteristics of a dwarf." He said he'd read over her notes from the other hospital and get back to us, which he never did. I ended up calling the hospital myself and getting an appointment scheduled. The soonest was two and a half weeks away, which is a long time to not have any concrete answers, though I now understand that this whole process is likely to take much longer than that.

This possibility came as a shock to us, but not because it came out of the blue. She spent the first 10 days of her life in the NICU for neonatal seizures and they were testing her for everything under the sun. For some reason, it occurred to me that she might have dwarfism one of the first nights there, and we specifically asked about that possibility, and at the time they told us "no" very emphatically. At three months, we realized she was unable to straighten her arm and Juan was concerned that she could have CP. We started the Birth to Three program where a physical therapist, occupational therapist and teacher/coordinator come in every other week to evaluate her progress and give us goals to work towards. She has been doing very well with that and she has attained more mobility in her arms. We also had a six-month NICU follow-up visit and saw the neurologist, a PT, and the geneticist. No concerns. So imagine our shock and frustration at being told she may have dwarfism after nine months of tests and evals with whole teams of specialists. I have to say that JC has suspected all along that something wasn't right. But, it's hard when she's so small to know what is just a funny quirk of hers and what is a symptom of something greater. To me, she's just Belalu.
At nine months on a walk with Essie
It's going to be an interesting day tomorrow. I'll be going to yoga before we head to the clinic. Essie will stay with friends so we can focus on what the Dr. has to say without distractions.

1 comment:

  1. she'll always be beautiful Belalu to you.

    H is always the fabulous little guy he is to me. but sometimes we do explain to others just so they don't sit there and wonder why he doesn't say hello or why he doesn't try to play with other kids. but we say it unapologetically. if there is a big reaction, then we won't be friends. that's fine. if they can't see how amazing he is, they aren't worth my time.