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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.

Thursday, July 24, 2014

Mother's Day

J spent May in Spain with a class, so we took advantage of the trip to the airport to say good-bye and spent mother's day up in the Cities. We saw the dino exhibit at the Museum of Science and participated in Family Art Day at the art museum.





Wednesday, July 23, 2014

Dr.'s Appointments

We had our appointment with Dr. Pauli in October, and everything looked great. He said he wouldn't need to see us for another 18 months or so. He predicted Belalu's adult height to be 4'9", which is taller than we expected him to say. I have friends and relatives not much taller than that (who don't have hypo). If this is accurate, the biggest factor, then, in terms of her accessibility, will be the length of her limbs. J is concerned about her being able to drive without something to help her reach the pedals, for example. So, the debate about if she'll want to do limb-lengthening is still alive in our house, as it will be until she is old enough to decide for herself.

She will have her three-year appointment next month, and I'll post the measurements they take, since I know there are parents who like to compare with their own child.

We'd had no other appointments since September. Except for an occasional cold in winter, she has been perfectly healthy. Much more than her brother, actually.


Tuesday, July 22, 2014

Easter

I'm not going to go through all the months I've missed on here, but I wanted to post some fairly recent pics, so you can see how the kids have grown. It was a very cold spring, so Easter required some bundling up for the egg hunt and brunch tradition this year.

This is the first time I dyed eggs with the kids. Belalu is really into eggs right now. Eating them, cooking them, peeling them, cracking them for baking, watching "surprise egg" videos on youtube... she can't get enough of eggs!




The local yarn store has a bunny-petting session around that time, and the kids, especially Belalu talked about those bunnies for days. If we didn't travel so much, I definitely would have bought one.



Belalu carried her basket around for a week. She even wanted to sleep with it!

Monday, July 21, 2014

Sorry for the Silence

I've been away from this blog for a long time, but I think I'm ready to get back into it. Last fall and spring I stopped spending so much of my free time on the Internet. I used it enough at work, and I realized that I didn't want to also use it in the evenings after the kids went to bed. I wanted to knit, sew, read, cook... things that gave me creative satisfaction.

The other reason, that goes along with this shift, is that I stopped needing it as much. I started this blog as a way to work through my thoughts and emotions when Belalu got diagnosed, and that need slowly became less urgent. She has been healthy and her development has been progressing normally, so I haven't been as worried about her.

However, I also created this blog to reach out to others who were perhaps grappling with the same news we got two years ago, and I hope that doesn't change. Hypochondroplasia is so rare, there are few places to find info about it. My information, of course, is personal, not medical, but I still remember searching for that personal experience when I found out. So, I want to continue to record our experiences here.

Here are Belalu and Essie on a trip we took to the National Eagle Center in May.




Tuesday, September 24, 2013

My Helper

I have a helper that loves to participate in chores, like unloading the dishwasher, wiping up spills, mopping and vacuuming the floor, watering the plants, and walking our Boston Terrier, Mobi.


video
Have a great week!

Tuesday, September 17, 2013

Thoughts a Year In

We are now over a year in from the diagnosis that changed our lives. In many aspects, life is exactly the same as it would have been if Belalu didn't have hypochondroplasia. Nevertheless, it's always in the back of my mind, but just as one facet of the many that make up who she is and how she'll face the world.

I am not afraid of different. I love that my daughter is different, and hope that my son will be, too, in his own way. I do not wish for either of them to have "an easy life." That does not mean I want their life to be hard, but I won't wish away the difficult moments. Easy does not make strong. Easy does not invoke contemplation and growth. Easy does not stir us to respond to challenges that compel us to shape our values and define who we are.

I cannot anticipate the challenges either of my children will face. I just try to prepare them to be morally and emotionally strong, compassionate and respectful to themselves and others, and to have integrity. To search for their passion and to value their place in the world. With these tools, I hope they will be able to face whatever challenges arise, and they will be better people for it.