Michael--What Went Wrong

I thought that some of my regular readers might wonder about our grandson Michael's problems, how he came to be disabled. Since he just turned 10 this week, I thought this an appropriate time to tell you. Most of us know some of the causes of mental retardation; birth trauma, illness of the mother, Down syndrome. In Michael’s case it is none of these though Down syndrome is the closest.
Long before Michael’s birth I had read an article about chromosome disorders. It seems that while Down syndrome is the most common chromosome disorder it is far from being the only one. In most cases a damaged chromosome results in an early miscarriage but in the case of the smallest, chromosome 21, the fetus usually survives.

With Down syndrome each cell has three copies of chromosome 21 instead of two. In Michael's case he has a ring chromosome. A ring is caused when the ends break off, often losing genetic material and the chromosome circles around and forms a ring. This is unstable and in Michael’s case some of the rings broke open causing further loss of genetic information. If this weren’t complicated enough, some of his cells have two copies of the ring and some only have the normal chromosome, trisomy and monosomy respectively.

It was known by the third trimester of pregnancy that something was wrong but the doctors didn’t know what. Genetic testing was done while he was still in the hospital and so was an MRI. The MRI showed abnormal brain development and he was referred to the local Regional Center when he left the hospital. In California the Regional Centers are the agencies that provide services to children who are suspected of having developmental disabilities. A few weeks later the genetic tests came back but no one could give us a prognosis. They said there would be developmental delays but they didn’t know how severe.
Michael received therapy almost daily. We observed the therapists and worked with him ourselves. It was 18 months before he learned to crawl. The poor kid, we were so excited that we kept moving his toy just so we could see him go get it. He was 33 months when he learned to walk. His therapists had just about given up hope. Sometimes he would get fed up and try to leave a therapy session or he would stand in the corner. I felt so bad, were we working him too hard?

His balance and coordination are poor, he falls often. He doesn’t speak, he doesn’t use a toilet. He had seizures for several years starting when he was about two but they have been controlled for several years. He is a sweet, gentle soul who makes few demands; a full sippy cup, three meals a day (pureed and tasty, please), a hand to hold, a warm bath. He is pretty good at indicating which of these he wants. I almost forgot, he has a button that when pushed says "Jeopardy, Please". For some reason he likes to watch Jeopardy. He seems to get satisfaction for those things he can do for himself, like feeding. I now know his hard work was worth it.

His family loves him, protects him, and tries to give him the best quality of life we can. I know that not all disabled children are as fortunate and my heart cries out for them. I worry; in a world of tea party advocates will these children and their families be left to fend for themselves? Who protects the Michaels of the world when they don’t have families that can do it?

If you would like more information on chromosome disorders you can check out Chromosome Disorder Outreach. It is a support group of parent's of children with these disorders and you will be amazed at the number there are.
The first two pictures are pages of a scrapbook I made of Michael's early years. A digital craft that can be a lot of fun.

Michael is an important part of my world so I have linked it to My World, a meme hosted by Klaus, Sandy, Wren, Fishing Guy and Sylvia.