I was just wondering if someone could tell me what to expect at my genetic testing appointment tomorrow morning? My Son was diagnosed with DMD two years ago when he was 7. The Doctors have told us that his disease is progressing really fast. He lost the ability to walk right after he turned 7.
I have an appointment tomorrow at Phoenix Childrens Hospital for the genetic testing to find out if I am a carrier. Is it just a simple blood test? What all are they going to do?
I guess I am a little nervous and just looking to see what others experiences were.
Thank you all
Mine was just a simple blood test. I'm not sure what your geneticist will do, but by the time I saw one, there was not much she told me. She would be very good helping if you are considering additional childern....if she knows the proper options for you whether you are a carrier or not.
I am sure they most likely mentioned this to you today but your daughters will need to be tested even if your test comes back negative for carrier status.
There is a thing called genetic mosaicism (sp?). It is basically where you are not a true carrier of the gene, but for some reason, when you were in your mothers womb and your eggs were developing there was a mutation in the eggs. This causes your eggs to carry the gene, but not you. It is found in about 30 percent of DMD cases.
I am not a carrier, and like you we don't have dmd in our family either. I have 2 daughters, they have both been tested and neither of them are carriers. Getting your daughters tested before they are 18 is a trick.... basically unless there is a reason to test them, the doctors won't as it should be their choice to know. Our doctor helped us 'find' reasons to test the girls when an occasion arose.
Don't be too worried about the cardiac issues. It is pretty rare that those could be serious. And even so, they would not show up until adulthood. I am a carrier and I go to cardio every other year just to be safe.
We are not getting our daughter tested at this point (she is six). Our docs say there is not much concern for her health at this time, she can make that decision herself when she is ready to think about having kids.
Hope this helps!