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Mild Case of Down Syndrome?

Posted Jan 11 2009 5:43pm
I thought I'd post the most commonly asked question even though I still don't have a clear cut answer for it. Friends, families and strangers always ask me if there are different degrees of Down syndrome- mild, moderate or severe. They'll ask me if there is such a thing as a mild case of Down syndrome. I think people are assuming that Joaquin has a more mild version of DS based on the fact that he was not diagnosed right away, the fact that sometime it's hard to "see" it in his face and the fact that for the most part he's on target developmentally.

Joaquin doesn't have a mild case of DS he just has Down syndrome. I'm really not sure how else to answer this question but it will be one of the first questions I ask next week when we visit Dr. Wardinsky, the lead doctor at the Down Syndrome Clinic at Alta Regional. This will be our first visit to a doctor who deals exclusively with children blessed with a little extra....a little extra chromosome.

There is no such thing as a mild case of Down syndrome- your genes either have three 21st chromosomes or they do not. But how that manifests itself will be different on each and every person and that person may have mild, moderate or severe symptoms. I saw it written somewhere online that it's similar to asking "Are you mildly pregnant?"...you are either pregnant or you're not. Maybe a good analogy is that no two pregnancies are the same.....sometimes you have insomnia, nausea and stretch marks and sometimes you only have weight gain and varicose veins or very few symptoms at all. With DS, no two children are the same, sometimes you have heart problems, typical facial characteristics and low muscle tone and sometimes you only have a few facial features, a little hearing loss, a mild strabismus or very few symptoms at all. One must also remember that the rest of Joaquin's genetic makeup, the rest of the 44 chromosomes have come from his parents so that's why he'll still resemble us and his siblings. He will also possess our strengths and our weaknesses much like our other children do. He will just have additional challenges based on how the Trisomy 21 affects his brain and his body.

Then there is the issue of how much control we have over his sensory stimulation in order to help his brain compensate for any injury caused by his Trisomy 21.....which we've written about in previous posts and is the main focus of the program we are doing with the Institutes as well as the therapy services provided through our Regional Center.

I will always welcome this question because I feel that this is one way that I can help education and advocate for my son and his peers. I hope to learn more every day about Down syndrome so I can share the most accurate information with those around me and increase the awareness. Just a few days ago, I felt compelled to put a Down Syndrome Awareness Ribbon magnet on the back of my car. I've never done anything like that before. Bring it on.....the questions, that is!
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