At first, I thought that to write this particular post, I would have to be medically technical and get all the details just right. So day after day, I pushed the idea aside and went on procrastinating. Well, it just came to me in the shower that this is MY blog, and I don't have to be meticulous all the time, I can get details wrong and then go back and fix them at a later date if need be. So instead of inundating all of us with medical jargon, I will just tell you about my adorable niece, Gianna, also known as Poopy Pants, and about some of the difference between her and the average child.
When Gianna was born in February of 2,006 she looked like any other baby, except the girl was HAIRY. I'm not just talking about your average peach fuzz baby. This kid had HAIR. On her arms, on her legs, on her back, on her hiney. And above her hiney there was such a thick, long thatch of hair that we used to call it her tail. She also had a unibrow, but big deal... we're Italian, and Gianna's dad is half black/half white. Hairy faces are nothing new to us! But Jill, being neurotic about her children's appearance, starting shaving in between Gianna's brows when she was just a few months old and and has kept doing it since. She was also born with many Mongolian spots, which doctors said would fade over time, as they have.
She was as sweet and funny baby and never failed to melt me whenever I was around her. I always knew there was something special about her, but I never realized that it would turn out to be a medical problem. When it was time for Gianna to start walking, she didn't. In fact, she never really crawled either. She kind of kept her legs in front of herself and pulled with her arms to get where she wanted to go. So, 17 months, 18 months, 19 months old and she's still not walking and the pediatrician is starting to get concerned. Off to therapy she goes but still, no walking. Next it's the neurologist. Everything seems fine. I don't remember how Jill got sent to a geneticist, but when she did, it was quickly found that Gianna has a very rare syndrome called CdLS, which stands for the doctor who first discovered it; Cornelia de Lange.
What was this syndrome and why have we never heard of it? Why didn't any of the doctors pick up on it quicker? Well for one, Jill erased the most telling physical feature of a child with CdLS... the unibrow. Gianna is lucky compared to many children who suffer with this syndrome, in that many are mildly to severely retarded and have a very odd look about them because their features are so different. Gianna does have a smaller head than normal, and she does have the unibrow, but it's not curved as much as most kids with CdLS. So far she has shown some signs of autism but very mild at this point. Her hairline is low in both front and back, her ears are a little lower on her head than what is "normal", and yes, her body is still fairly hairy. But outwardly this is about all you would notice, if you noticed at all.
Gianna is walking now, although a bit on the wobbly side, and she still doesn't take a step up like an average two year old would. She's even putting some words together now! This was amazing for all of us, because we weren't quite sure when or if she would actually talk. Mostly it was just grunts and funny sounds for a long long time. A few weeks ago she was here, and as they were leaving I told Gianna I loved her. I nearly melted in a puddle on the floor when she replied, "I dov doo doo, Tiney!" Music to my ears!
There's still so much for geneticists to learn of this syndrome, and the symptoms vary so much between each individual, that we have no clue how Gianna is going to develop from one stage to the next. She could wind up with heart problems or any other of a multitude of health issues. She's already had to have tubes put in her ears and her adenoids removed, but so have a million other kids, right? No one knows what her IQ will be like, if she'll have learning disorders or behavioral disorders like her older sister, Alexa. With CdLS it's all a waiting game to see how your child will develop.
She does do things that most average two year olds probably wouldn't do. She will eat ANYTHING, and I mean anything. Doesn't matter how bad it tastes, Jill has to watch her like a hawk. Dog food, cat food, deodorant, Balmex, batteries, candles... these are just some of the things she will put in her mouth and try to actively eat. She doesn't seem to understand basic discipline, so trying to put her in time out or something along those lines is a waste of time. We jokingly call her "bad bad baby" because she goes from room to room causing havoc. If there's a cup of water or soda on a table she'll just knock it off and go on her merry way. If there's a big bowl of water down for their dogs, she thinks nothing of stepping into it and taking a little sponge bath. She's hysterical in her badness!
One thing is for sure though. I love this child with every breath I take, and there's something so special about her that just hits you right in the heart. Every time I'm around her she makes me laugh, and sometimes makes me want to pull my hair out. Or hers! But that's my Poopy Pants!
P.S. Click on the title "Introducing, Gianna" to be brought directly to the CdLS website!
Until next time, Justine :o )
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