I am the grandmother of Beau, a 4 year old Duchenne patient. He is the light of our lives, and we are involved in a fundraiser right now for Duchenne Muscular Dystrophy. We are most interested in research and clinical trials for treatments - currently connected with Dr. Wong in Cincinnati. Hoping for a cure early enough to save our Beau.
About my family:
Fox and I are parents of four grown daughters. Emily, our second daughter, is the mother of Beau, who has DMD. They have visited Dr. Wong in Cinncinnati, and are about to begin his treatment with deflazacort through Dr. Wong. He is still pretty normal with his ability to do things, but we will begin to see a deline at some point. Emily is not a carrier for the disease, so this is a relief, since we have two daughters who haven't had children yet. My oldest daughter has two perfectly healthy little boys. We believe she had some type of "mutationin utero" with Beau, rather than being a carrier.
Name(s) of child(ren)/individual(s) with Duchenne:
Paul Edwin (Beau) Gregory, IV
Age(s) of child(ren)/individual(s) with Duchenne:
Comment Wall (2 comments)
You need to be a member of PPMD Community to add comments!
Hi - yes, our Beau was diagnosed at about 2 l/2. He is now on Deflazacort, which has greatly increased his muscle strength - a noticeable difference. He is a precious little boy in every way - extremely mischievous, and adores his little sister Amelia. They are truly partners in crime. Is your 8 year old showing many signs of the DMD yet? We are very excited about exon skipping for Beau. We have some friends who may try a cord blood transplant with their 4 year old son - hope their choice pays off for their little Gabe, too. We now have Dr. Pierre Fiquieres here at the University of Alabama Children's Hospital, who worked under Dr. Wong as a fellow. We think he is just what we need here, so Beau is going to him rather than travelling to see Dr. Wong in Cincinnati. He understands all the ins and outs of the disease, as well as other neuromuscular diseases and disorders. Of course, this revelation of his disease took us all a long time to digest, and each new thing does as well. He currently has some behavior problems, which are common in DMD boys, which we are all working on, but in general he is a happy little boy. We are hoping to get him into a pre-school (if he qualifies after testing) where he will have more one-on-one help with learning issues as well as behavior issues. We expect his behavior in school will improve with maturity. I'd love to hear about Brady, as well as how your family is coping with DMD, and what treatment(s) you might be anticipating for him. Thanks so much for contacting me. Sara Lynn deFuniak
Hi Sara, I am new to this site. I noticed you mentioned you were a gramma and I am too. I got on the site to try to find other grammas to talk to. My grandson, Brady is 8 and was diagnosed about 4 years ago with DMD. He would have been about your little Beau's age. Please write back if you are interested in a grammy friend. We live near Charlotte NC and go to see Dr Wong also.