Hi Everyone Our doctors were less than helpful in explaining to us why this happened. I'm hoping someone can tell me or at least point me in the right direction for me to understand why these test…Continue
"Susan's right. The genetic counselors at Duchenne Connect are fairly helpful, and are willing to take your calls multiple times which is helpful if, like me, you understand part of what they tell you, think about the rest and then have…"
"If you haven't done so yet register your son on the Duchenne Connect patient registry site. They have genetic counselors that can help you figure out what tests to try, they will work with your drs. too."
My son's DNA was tested first through the more conventional ways (PCR) and no duplication or deletion was found, Then we started reading about the so called "DOVAM" tests (Detection of Virtually All Mutations). We live…"
"Jonathan did have a muscle biopsy which showed no dystrophin in the sample tested. At this point Jon's Drs feel he is more of a Beckers, but who knows. From what I understand there may be as many as 5% of boys that they may never be able to…"
I'm so sorry to hear about your son and I feel your frustration. I'm where you are now with our son Anthony but I'm starting to get answers finally. Our son who is 5 was just diagnosed 3 months ago. He…"
"Susan - I'm sorry to hear that about Jonanthan. I hope things will get better.
Andrea - From what I understand there are two test. One detects 70% and the other 30%. My son is in the 10% that is unknown. At least for…"
It means that they weren't able to identify your son's particular mutation/deletion/duplication that is resulting in your sons DMD diagnosis. Our son Jonathan is 20 and has had 4 different DNA tests and they still haven't been…"
Hi Everyone Our doctors were less than helpful in explaining to us why this happened. I'm hoping someone can tell me or at least point me in the right direction for me to understand why these test came back negative. What does this say about the type of dmd my son has? Its just an unknown type? He took the full athena test that looks for mutations, deletetion, duplications, etc. Thank youLuis See More
I'm the proud father of Luisito, he was diagnosed in October 2010. We visit the Duchenne Clinic at UCLA and are hopeful for the future. I also have two other children without DMD and a loving wife, who I see as my best friend.
Luis is everything I always I wanted in a son, DMD will never take that away from me...
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