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Tuesday, July 29, 2014

Diagnosing Hypochondroplasia: the first step

You'll notice a tab below the blog's title banner labeled "Our Story." I realized today that I never completed the full story of how Belalu was diagnosed with hypo. So, after a long jump in time, I'm picking up from that thread. The last post was here, when we realized she was unable to straighten her arms. Her growth chart was showing some slowing down, but not enough to alarm the physician too much.

I've found some pictures to show how she usually held her arms:
At two months

At four months
It's hard to tell because of her dress, but if you look closely, you can see that they are not completely straight. This is as straight as they would go.

So, she was enrolled in the Birth to Three program, and we'd have a teacher, PT, and OT visit the house every other week to work on her tone and mobility. Her arms seemed to be getting looser, and I was convinced that everything was physically fine with her when we had her nine-month well check.

Our regular pediatrician was out on maternity leave, so we saw a young doctor who was there while she was out. We got through the whole exam, and just as it appeared that we were done, I asked him, just to confirm what I already thought, that there were no concerns about her height, since the Dr. had mentioned something at the last appointment.

He looked at her chart, looked and her, and said yes, actually, her height was still dropping, though her head was increasing. Then he said, just like that, as if he were talking about the weather, "you know, she has the characteristics of a dwarf." J and I just stared at him. Then I told him that I had actually asked the Drs in the NICU if that was a possibility, and they said no. He asked us if they had tested her for dwarfism. We said that they had given her what seemed liked hundreds of tests in those ten days, surely one of them would have picked it up. He said that it was a specific test and he'd check her records. He left us alone there in shock for a few minutes and then came back and said there was nothing there about it, so he'd call the geneticist at the other hospital and find out. "I'll give you a call in a couple of days," and that was it.

Ok, I may be remembering in fragments- I do recall he did at some point say something about how she would be able to lead a relatively normal life, that it wasn't a big deal, blah, blah, blah... but his attitude was complete nonchalance and almost dismissal. We had overrun our time for a well check and he was ready to pass us on to someone else. We never heard from him again, and didn't really want to. After a day of waiting and wondering, I called the geneticist myself and found out that she had not been tested and scheduled the early appointment we could get- for two and a half weeks away.

I spent that time asking myself: if she had dwarfism, how could everyone have missed it? All those tests, all those days in the NICU and subsequent Drs appointments at two different hospitals, all the specialists... I refused to form an opinion about it until someone told me with concrete evidence. J, meanwhile, spent what seemed like every day and every night researching the internet, learning about all the different types of dwarfism. One day he was convinced she had one type, the next day it was a different one. I couldn't listen to all the medical terms and speculations- I just wanted to know for sure what was going on. I refused to get upset before there was a diagnosis. She was fine, she was healthy- this was all I could see. But after a while, J settled on hypo and there was my explanation for why no one had realized it before. And I started to believe it, and I started this blog to work through my thoughts about what this would mean for her and our family. My first few posts live that experience.

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