tamela_j (tamela_j) wrote,

Blogging about Kids with Disablities

Note about Blog: This is my first time discussing my “personal life” outside of what I am as a writer. This is certainly my first time blogging about Matty and what I feel for him and what he means to me.

Therefore, this first blog will be just a bit about his Syndrome and how to diagnosis and recognize it and some of its challenges. In additional Special Needs blogs I will more than likely get into specific things such as behavior, sibling relations, cognitive functioning and the, oh so scary, sexual and puberty issues. *yikes*

“It is important to remember that a person is a person first, and the diagnosis is secondary. Because of the wide variation within this syndrome and the lack of a single, defining characteristic to confirm the diagnosis, the general label of Cornelia de Lange Syndrome (CdLS) may or may not be helpful in understanding how a child will develop. Ever person is unique and decisions regarding care should be made on the basis of what is best for the individual.”

--Facing the Challenges: A Guide to Cornelia de Lange Syndrome (Pg. 12)

As I write this on October 9th 2009 I am celebrating my 10th anniversary of this job and this life as a nanny for a special needs child.

I first came to work with Matty when he was four. And it’s times like these, anniversaries and birthdays that I think about how it all started. How little I knew then and the things I’ve learned.

I knew he had Cornelia De Lange Syndrome even if I didn’t fully know what that meant. I knew he was developmentally, physically and verbally delayed. I also knew he was completely adorable. Still is.

The syndrome Cornelia de Lange was named after a Dutch pediatrician who was a pioneer in medicine, a scholar and a defining force in pediatrics in the first half of the twentieth century. She wrote a paper in 1933 describing two children with similar features and was said to be the first to recognize the symptoms.

Before she made this comparison, there was no documentation of what became known as Cornelia De Lange Syndrome (CDLS). Which seems a shame, because, while it is a rare syndrome (1 in 10,000 live births), it is relatively easy to tell if a child has it. So easy that when we first started receiving the CDLS Newsletter in the mail, Matty took one look at the baby on the cover and convinced it was him when he was little. He would continue to think this for the next couple covers, all of different children.

If your child looks like this:

No matter what other symptoms, what other health issues or physical abnormalities, your child has Cornelia de Lange Syndrome. But that only gives you a diagnosis and something to tell all those pesky government busybodies who need proof your child has special needs.

Yes, most children who have CDLS have the same facial features: long eyelashes, eyebrows that meet in the midline (synophrys), short nose (anteverted nares), broad or depressed nasal bridge, small or square chin and thin, down-turned cornered lips. But there are a myriad of other symptoms that the child may, or may not have in differing extremes. For a full list go here.

I remember looking at this list of possible challenges and thinking that we were lucky that his case wasn’t as extreme as some, and it’s true. There are children with missing limbs while Matty has all of his; there are children with severe retardation while Matty is a high level that will allow him to continue to learn new things every day. There seems no limit to what he can comprehend, given enough time and patience.

Some of the things I felt lucky about at the time are things that in later years would become apparent that he hadn’t in actuality dodged. They just took time to manifest. Things that we didn’t even know to look for--even though they were on the list--but so were 100s of other things, and to worry about one would to worry about all--and really, who needs that kind of stress and worry?

So, we found out he had been having seizures when one morning, I went to wake him and found him in his bed, eyes open, body rigid, unresponsive and barely breathing. I’ve never been so scared in my whole life! Through that episode we realized that his beautiful little brain was in a constant barrage of little seizures. He started taking medication and though he still has brain activity that would be labeled “seizure”; he hasn’t been affected adversely.

One day, when he was ten, he swallowed a dime. No big, right? His esophagus was so small it got stuck there and he had to be rushed to the hospital to have it fished out. It was then that we found out he had Gastroesophageal reflux. He started taking medication and though, he still delights himself with the volume and range of his burping, it no longer seems to bother his stomach lining.

We knew that he had behavioral issues, really, what child these days doesn’t? But we never really knew how many of these issues were manageable until his neurologist subscribed him Adderall. The change was immediate and awe-inspiring to watch. We watched this frantic, self-harming through impatient and unfocused attentions boy become a child who paid attention to where he was going and who could spend more than five minutes on a task without a desire to move to the next. (This behavior, however, doesn’t translate to museums, aquariums and festivals where he can still go through the entire facility in about 15 minutes and ready for “What’s next.”)

It is impossible to gauge what of Matty is the CDLS and what is just him, though we tend to blame all his bad behaviors, obsessions and difficulties with the CDLS and his good qualities and the things that makes him such a good, friendly kid that everyone likes with “Matty being Matty.” But you know what? That’s fine. Why not? They are both valid and they both make him special and unique.

I wouldn’t have him any other way.


Elisabeth Carnell


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Benevolent Goddess

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Tags: blogging, cdls, matty, nanny job
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