Friday, July 2, 2010

Ds 101 - if you can even call it that!

I think most people know that Down syndrome is a genetic disorder. There are 3 identified "versions" of Ds with the most common (about 95%) being an extra 21st chromosome on all cells of the body (Ds is sometimes referred to as Trisomy 21, or T21). This is what our boy has (an amnio was conducted and "they" looked at 15 cells, all verified that he has the extra chromosome and that it's a boy!). The 2nd type is a mosaic version. This is the occurrence of just some cells having the extra chromosome (for example, the blood cells may contain 2 pairs of the 21st chromosome, and the skin cells may contain 3...). There is also a form called Robertsonian Translocation. This one is more confusing to me at this point. It is my understanding that this usually involves the 14th and 21st chromosome. The chromosome may break and rearrange itself; the extra 21st may attach to the 14th. Again, I still need to understand this one more. R. Translocation may be inherited and parents can be tested to see if they are carriers. There is definitely more to Ds than this, but it may be enough for us to know right now. I can only imagine what we will learn - especially since the science of Ds is growing and changing so much. I admit that sometimes it is hard to read about Ds unless it is people's personal experiences. (Would you want to read information about what is possibly going to be wrong with your child, let alone know that anything is even wrong?) I've been reading a couple of books and recommend them to anyone interested: Gifts: Mother's Reflect on How Children with Ds Enrich Their Lives and Gifts 2. They remind us that people with Ds are people who have a lot to offer to their families and communities. Again, I look forward to learning how this little boy will enrich our lives.


  1. By the way, about 1 in 700-800 babies are born with Ds and roughly 50% of those have a congenital heart defect (that is what triggered our amnio back in May). As we waited for the results, I sat and thought about the number of people around me. My grandpa John had just passed away and that is one huge family, so I got to thinking, "Yep, not knowing anyone in about 700 people who have Ds, it's going to be this boy!" We are giving him the middle name John after Grandpa. As I sat and listened during his funeral service, I knew that this boy was going to be just as special.

  2. Grandpa would be so honored that you are using his name for baby's middle name:) I'm sure he is there for you if you need to talk.