Who is ready for a biology lesson? ***
Okay. Here goes….a human body is made up of billions of cells. Most of these cells have a nucleus. Inside the nucleus are a person’s chromosomes, which contain their genes. Every cell normally has 23 pairs of chromosomes. Of the 23 pairs, one member of each pair is normally inherited from the father and the other is normally inherited from the mother. Let’s go a little more into chromosomes; chromosomes have two sides a short arm, called “p,” and the long arm, called “q.” The genes within a person’s 46 chromosomes total about 30,000, and in any given cell a gene can be turned on or turned off.
Here is the reason for the lesson: Cooper has a unique chromosomal disorder. He has a loss or deletion of some material on chromosome 7 and a gain or duplication of part of chromosome 12. This is called an unbalanced translocation and is on the p arm of his chromosomes. More specifically it looks like he is missing about 30 of the 30,000 genes, and he has an extra copy of roughly 100 genes from chromosome 12.
What does that mean for Cooper’s future? We don’t really know. Genetics is a relatively new field of medicine and The Human Genome project is coming along, but with all the possible combinations of chromosomes and genes, there is still much that is unknown. There is practically no material about the small deletion that Cooper has on chromosome 7. And although there are a few studies about duplications on the p arm of 12, most of the patients had a much larger amount of effected area. With the research that is available, we can see some connections to Cooper but others don’t seem to fit. The geneticist and genetic counselor that we met with said they do not expect Cooper to have any major issues with his appearance or body organs, which we were very thankful for. However, he may need some extra help, and he may have learning delays.
What does this mean for Cooper right now? Well, it means he’s unique, one of a kind (but we already knew that.) Besides that, not too much. So far Cooper has been improving greatly with his physical therapy. We’ve been getting help through our school district and a local hospital. In December, he could not sit on his own or put any weight on his legs. Now, (although he still hates to crawl) he can walk along while holding onto furniture or walk holding on to our hands. We see tons of progress and are confident that he’s learning a lot. We hope to look into other ways to help Cooper grow. We are looking into both speech and occupational therapy options to see if he qualifies for any services.
What does this mean for our family? Again, we are looking into a few things. Both Tom and I got our blood drawn to check our chromosomes. There is a possibility that one of us has a balanced translocation, but we won’t know for a few weeks. After the results come back, we may meet again with a genetic counselor to think about future plans.
How are we doing? Well, no one likes to hear the words “disorder, delay, or abnormality.” It is hard to think that something might be “wrong.” It is also had to imagine that this problem is so small yet it can make up every part of who Cooper is as a person. But, we also get to see Cooper every day and know how amazing he is. His laugh is infections; he is curious and cuddly, and we couldn’t have asked for a better little boy.
***I am not a biology major. I am by no means a health professional. And, I squirm when talking about blood and body stuff. I even turn my head away from the TV when they are operating on doctor shows, like E.R. Please don’t take any what I say as fact….this is how I am learning to understand all this new information.
