Our only child, Dillion, was diagnosed with Muscular Dystrophy on July 10th, 2014. The genetic test was confirmed on Sept. 29th, 2014 with Duchenne Muscular Dystrophy, deletion 49 - 54. Dillion is 29 months old.
We will have our first appointment with Dr. Brenda Wong on Nov. 18, 19, and 20. So if anyone will be in the area the same week, we would love to meet up.
At this time, we have million of questions. We are writing all down for Dr. Wong. If anyone has any suggestion we should do right now to best benefit our son, please let us know. We are looking forward to communicate with everyone here to share, learn , and progress together. Best of health to everyone.
THis is Kathi from PPMD. You should see a genetic counselor next week in Dr Wong's clinic. the visit takes 3 days the first visit (follow up visits are usually 2 days): day 1 is generally with Dr. Wong, going over test results, getting a history, etc. and maybe the PT for an initial evaluation. Day 2 is testing (PT, OT, pulmonology function, cardiac testing, any lab tests, x-rays, DEXA , etc.). Day 3 is filled with visits with everyone. you will either see genetics on day 1 or day 3. In the meantime, you can contact any of the 3 genetic counselors who curate DuchenneConnect at www.duchenneconnect.org. (the 2 who will most likely help you are both named Ann). they are very nice and very good and they will be able to answer all of your questions.
We only have appointments on 2 days. I know we will find everything out next week, but just thought if anyone knew off the top of their head in here what they meant. It has some numbers and its a nonsense mutation I just don't know which exon. I have waited this long less then a week wont matter I was just curious. Codon position is 1265.
I did just go to duchenne connect and set up an account just a bit ago. Thanks.
Amelia, I sent you a private message.