Haynes Family DMD Info

Updated on January 11, 2004

 

 

 

 

 

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The Haynes Family's Duchenne Muscular Dystrophy Info Page

In July 1996, our lives forever changed. We found out that our oldest son, Matt who is now 13, has Duchenne Muscular Dystrophy (DMD).  DMD is a terrible disease that is characterized by progressive muscle degeneration, loss of the ability to walk, often the loss of lung or cardiac function, and frequently early death all due to a lack of dystrophin.

Matt's initial DNA testing in 1996/1997 did not indicate a deletion. However, in March 2000 we got results from Ohio State that indicated he had a Stop Codon in Exon 7. In July 2000, Dr. Hoffman's lab at the Children's Hospital in DC indicated that Matt had duplication of Exon 2 in his DNA. In further DNA analysis during October 2000 thru Ohio State, Dr. Mendall has stated that Matt's DNA indicates a causative mutation found in dystrophin gene representing a nonsense mutation in Exon 7, C189, with an Amino Acid Change of gln>ter. This was an interesting time as both labs were sort of ticked off by the other's results. Both labs stand by their results. So for now, we can only assume that he has both. But of interest also, is the fact that DNA testing for DMD has came a long way since the initial results in 96/97. All in all it was interesting to "know" where in Matt's DNA the problem occurred but I donít know if it really in truth changed things. It gave initial hopes when the Gentamycin study began, but those hopes died off.

The latest issue to come up is scoliosis. Matt's curve has reached 14 degrees. His doctor at the Scottish Rite MDA Clinc in Atlanta recommends surgery at 20 degrees. Right now we will go back this summer to check again to see if it has progressed to the point of requiring surgery.

More information is available at the links provided below and at my WebPages linked on the left side. Those past visitors looking for research updates, I have those on a separate page now.

 

Matt got an assistant dog from Canine Assistants of Alpharetta, Georgia. We spent two weeks in Atlanta training with his golden retriever Ė Crockett.

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