Evan's hypochondroplasia story

This may be boring to some, but I started this blog to document our life and I haven't recorded this event anywhere, I'm home sick with a "migraine hangover" and nothing else to do, so here goes...may be kind of long, so pass it by if you're not interested...

Our son Evan has hypochondroplasia.

What is hypochondroplasia?

Hypochondroplasia is a form of short-limbed dwarfism. This condition affects the conversion of cartilage into bone (a process called ossification), particularly in the long bones of the arms and legs. Hypochondroplasia is similar to another skeletal disorder called achondroplasia, but the features tend to be milder.

All people with hypochondroplasia have short stature. The adult height for men with this condition ranges from 138 centimeters to 165 centimeters (4 feet, 6 inches to 5 feet, 5 inches). The height range for adult women is 128 centimeters to 151 centimeters (4 feet, 2 inches to 4 feet, 11 inches).

People with hypochondroplasia have short arms and legs and broad, short hands and feet. Other characteristic features include a large head, limited range of motion at the elbows, a sway of the lower back (lordosis), and bowed legs. These signs are generally less pronounced than those seen with achondroplasia and may not be noticeable until early or middle childhood. Some studies have reported that a small percentage of people with hypochondroplasia have mild to moderate mental retardation or learning disabilities, but other studies have produced conflicting results.

Back in February 07' , Rob and I thought it was kind of funny that Evan's 12 month pants still fit him (only tighter). He was going to be 2 in a few months. We remembered that Jared kind of had short legs for awhile, but he grew into them, so we brushed this thought about Evan aside--kind of...Something still didn't seem "right" so I googled "short legs children" and remember reading a few things about dwarfism, but completely skipped past it. Evan wasn't a dwarf. I would know if my son was a dwarf! The show Little People Big World was becoming popular and I would say that Evan was our Little Person as a "joke"--I was ignorant! It continued to bother me a bit, though (not in the keep me up at night kind of way), so I brought it up at his 2 year wcc. She didn't seem too concerned, but sent us to get x-rays because she did notice that he was a bit disproportionate. Dr. was more concerned about his speech and his ear infection and his breathing treatments. We walked out of that office with 5 Dr. papers! X-rays were first on the list. Rob took him the next morning. You know it's really something when the Dr calls you back a few hours later on your cell phone.

Dr. proceeded to tell me what the radiologists saw(notice the plural, 5 of them looked at the x-rays--this was new to them, too)--all I remember in the big blur of it all were the few big words she said--achondroplasia and hypochondroplasia and that the first didn't seem to fit but the latter needed further testing. You know what my response was? "Okay, thanks." WHHHAAATTT? I tried to call Rob (he wasn't available...grrrr), when it clicked. It finally hit me what those words were--I'd read them during my google search. Was my son really a dwarf?? I called my mom--she wasn't home. I called a friend--she wasn't home. Called another one and cried my eyes out to her (thanks, Lia). I turned to the computer and did all the research I could. We were sad for the first few days--all I could think about was how Evan would be "different" and how I didn't want my son to have to go through life that way. Would his possibilities be limited, would he be teased, would anyone want to date him, would he have typical childhood experiences or would he be left behind because he looked different...?? The questions just spun in my head.

It only took a few days to snap out of it. We gave ourselves that time to "grieve." Evan wasn't any different then he was the day before we found out and he would only become what we allowed him to become. We had plenty of time to let it all sink in. It took another 6 months to be able to see the genetic counselor at Children's in D.C. and then another 4 weeks to get the blood test results back confirming that he did indeed have hypochondroplasia. I was so relieved when they told us--I felt silly feeling that way, but I think I would have been devastated if it had come back normal. We had accepted it and I didn't want to go back to square one.

This is the first picture we saw (no longer available) that cemented this reality in my head. When I saw the pic of this little girl, I realized that that is how Evan is shaped...Then I looked at this picture (no longer available) and I thought hmmm...Evan's face does look a lot like that. Dr. Zand gave us some great info on hypo (that's what you call his form of dwarfism, if you're "up" on the lingo) and she spent an hour with me on the phone after we got his results back--answering all my concerns and questions. I'm looking forward to our visit at the skeletal dyspasia clinic in D.C. this coming March to find out our next steps and what to expect in the future(Evan will have yearly visits there).

Basically, Evan will be short. He will be healthy. We don't know how tall he'll be--there is no way to tell. He will fall off of the AH (average height) growth charts--he was diagnosed early. The Drs. said I have an observant eye for catching it--how could I not, I'm his mother--I still don't get that. He could have leg bowing, he may not. His speech delay could relate to this, but it may not. His plethora of sweat and his breathing problems are related to this--but no biggy. There is a 50% likelihood that his children will have hypo, and even greater if he marries another LP. You don't qualify for special education services because you'll be short, mais cava, c'est la vie! Evan may want to join LPA (Little People of America) when he is older, if he feels like he needs that connection with others like him. We'll let him and we'll go to the conventions, too, just like on the show. We'll let him play soccer, too, with DAAA or whatever sport he wants to play(except gymnastics--bar/ring swinging not allowed). He'll still have to do chores, get in the car on his own, participate in our family adventures, sleep on the top bunk when he's old enough. Hopefully, he'll be tall enough to ride on the Tower of Terror--I don't want him to miss out on those kinds of things. Sometimes I still get sad when I think about that--missing out because you don't meet a height requirement, lame. I have a lot of hopes for him...

I do get bothered when people comment on his appearance (i.e. he looks like an elf, cartoon character,...or even just that second glance at him because something about him looks different), but I'm learning that it is never intended to be hurtful. They just don't know. And if they did, I'm sure they wouldn't have said it. And if they still do, then that will be something different because mothers love their children no matter what, and I'll knock their teeth out! Really, I will...

We love our little Evan. I think he's adorable and dwarfism makes him even more so (he'll be cuter even longer--you know how boys lose that cute factor as they get older). I couldn't imagine him any other way!