Help requiered for DMD biopsy - Muscular Dystrophy Message Board

CHARLY26824 · 09-20-2004, 06:39 PM

I have a son named Alvaro that is suffering from Duchenne Muscular Dystrophy. He is 21 years old.

He had a biopsy in my country, Chile 16 years ago but unfortunately the sample was lost.

Now we want to know exactly the type of failure in his cells.We would appreciate if anyone could give us some information to obtain a new biopsy in the U.S.A., in a hospital where they are currently researching and studying this disease. Also at this moment it is important for us to determine which type of Duchenne Muscular Dystrophy Alvaro has because many of the possible treatments will not be suitable for him.

Carlos Munoz

Santiago - Chile

Mark&MelissShaw · 09-21-2004, 03:37 PM

My husband has DMD, he is 33 years old, there are no types of DMD, just the one. Why do you feel the need to know the failure in his cells in such a late stage, nothing wrong with that but just wondering? Is your son's condition inherited or a mutation like my husband's?

Love Melissa
xxx

CHARLY26824 · 09-23-2004, 05:58 PM

Thank you Melissa for your reply.
I feel the need to know exactly which exons are damaged. According to a DNA test no apparent deletions were detected.
Some lines of investigations are directed at other types of causes, specifically to premature stop codon and we hope that very soon there will be a solution for this type of disease, for example through PTC124, but we do not know at the moment if Alvaro will be suitable for this treatment, because we are not sure of the exact type of failure in his system.
We think that Alvaro’s condition is a mutation like your husband’s because nobody in our family has suffered from this disease before.
The last thing I would like to ask you is how, when and where was your husband diagnosed with DMD?.
Thanking you

Carlos Munoz

Mark&MelissShaw · 09-24-2004, 04:00 PM

Quote:

Originally Posted by CHARLY26824

Thank you Melissa for your reply.
I feel the need to know exactly which exons are damaged. According to a DNA test no apparent deletions were detected.
Some lines of investigations are directed at other types of causes, specifically to premature stop codon and we hope that very soon there will be a solution for this type of disease, for example through PTC124, but we do not know at the moment if Alvaro will be suitable for this treatment, because we are not sure of the exact type of failure in his system.
We think that Alvaro’s condition is a mutation like your husband’s because nobody in our family has suffered from this disease before.
The last thing I would like to ask you is how, when and where was your husband diagnosed with DMD?.
Thanking you

Carlos Munoz

Are any of the women especially the Mother a carrier of DMD, my hubby's Mum isn't and that's why Mark is a mutation. We have a two and a half year old son, he doesn't have the condition, however we're trying for no 2 next month and if it's a girl, she would definitely be a carrier which means she would pass MD on to her sons, quite a difficult thing to think about. Mark was diagnosed with dmd with a muscle biopsy aged 5, back then as he is 33 now, biopsies were different and much more painful, nowadays they're a lot easier and simpler. I don't know what you mean by where was he diagnosed, UK I guess is my answer, here's hoping I have answered correctly. Any more questions, just ask. Mark is on a Nippy Ventilator, something your son might need in the near future.

Melissa
xx