Where it all started for us -
Caitlin was born on July 20th, 2007. We could tell from the start that something was different - Cherylle said the pregnancy never felt the same; she lost weight throughout the pregnancy despite having a larger belly than the first. Her labor was 6 times as long as the first time - and when we first saw Caitlin she definitely did not look the same as her brother.
She was our baby, and we were happy - but the doctors were very concerned. Her height and weight were in the 7th percentile overall (VERY small) but her head size was in the 70th percentile. Way too big of a difference to be normal. They immediately scheduled an ultrasound for her head - they were very concerned that she had hydrocephalus. Their concern had us worried too.
The next day they performed a cranial ultrasound. The films were developed, and they came back confused. Based on the size of her head, they had been convinced she had a problem - but the films showed nothing. They had no idea what to say, other than "I guess she's fine, go home". I'm sure it was nicer than that, but that's all I remember.
At her two month well-baby checkup with our regular pediatrician, though, the doctor took one look at Caitlin and knew immediately what was going on. He wouldn't give any specifics, though - just made a referral to a geneticist and told us that we really needed to talk to him. The first geneticist made some vague noises about "dwarfism" and "achondroplasia" but said he really didn't know anything for sure. He referred us to another doc who would know what to say.
The second doc had Caitlin pegged from the moment we walked in the door. Now that I know more about achondroplasia, I don't blame him. Even at 3 months, Caitlin was the textbook model case of achondroplasia. Frontal bossing, midface hypoplasia, short upper limbs, trident hand. Every sign was there if you knew what you were looking for. He had the labs do a full skeletal survey (x-rays of every bone in her body) to verify the diagnosis, but there were no surprises. Even the shape of her vertebrae was expected.
Cherylle remembers the date well. I don't remember the specifics, only that we were both in shock. I handled it well in the doctor's office while Cherylle broke down in tears, blaming herself for hurting her child. She'd done everything she could to guarantee a healthy pregnancy for Caitlin, but this had still happened. The phrases "autosomal dominant" and "spermatogenesis", meaning that it was a genetic fluke that happened in the sperm didn't seem to help. I had my moment of realization later in the car, driving away. I didn't understand what had happened, really.
We both started doing as much research as possible, trying to understand what we'd just been told. We both started with medical dictionaries, trying to grok the fullness of achondroplasia and what it meant for Caitlin physically. We then moved on in two different directions - Cherylle trying to find out what she would need to do differently for Caitlin as we raised her, especially in the next month... the next year... while I tried to find out what this would mean for her down the road. What would her life be like in high school? In college? Would she find a partner/spouse? Would she have a "real" life?
As we dug, and as we learned more about achondroplasia, we found many fabulous sites. The Yahoo group "Parents of Little People" was an invaluable resource for new parents, connecting us with others who were going through or had gone through the exact same thing and had many many answers. Personal blogs - from parents of kids with dwarfism, and even from people with dwarfism themselves - gave us insights into the life of those affected by achondroplasia and other forms of dwarfism. We joined the LPA. We planned to attend conferences and events. We not only became comfortable with Caitlin's diagnosis, we actually began to welcome it. Our eyes, our hearts, and our world had been opened to a new community - and with it came some of the best friendships we've ever had.
This is what I posted on MySpace (my how things have changed since then!) when I was ready to tell the world what we'd learned. I think it sums things up nicely.
Monday, November 12, 2007
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So for those of you who don't know yet, which is probably most of you, Cherylle and I discovered last week that Caitlin has Achondroplasia, or "dwarfism" in English. Achondroplasia is the most common form of dwarfism, anyway, and accounts for over 70% of cases. It's still pretty rare, though, and only occurs in one out of every 25,000 births or so. One author I read recently, in a book he wrote about his daughter with the same condition, likened it to Ed McMahon showing up on your doorstep with a check.
What this means, realistically, is that she likely won't ever be taller than 4 feet, and will have different proportions than the kids around her. That's it. Sure, that's enough for most people. Looking different than everybody around you is often enough for any kid to deal with growing up, especially in junior high. Not being able to see over the counter at the bank kinda sucks, too. Still, considering all the disabilities that Cherylle sees every day in her job with Easter Seals, that ain't that bad. There are no serious health risks associated with achondroplasia; no shortened lifespan or lower IQ come along with it. In fact, people with dwarfism have a slightly higher IQ on average than the rest of society. So, all in all, that ain't bad. If any of y'all have any questions, please let me know - while I'm still far from being an expert, I've already read enough that the National Geographic channel's special on dwarfism the other night was old news, and I'd be glad to help out. And if you know of anybody that's affected by dwarfism, or has a little person in the family, please feel free to point them in my direction. Till next time!
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