Bradley has an exon 2 duplication. I'm wondering what this will mean for his progression. I'm thankful to say he is still walking at age 11. Sometimes I believe his gait is getting worse and other times it seems he is about the same. He seldom uses his wheel chair....like maybe twice per year. But I'm glad we have it on hand in case he really needs it. It is a manual so we will have to get a power wheel chair if he starts uses it often. I wonder if his particular duplication causes a slower progression. The doctor says although DMD is confirmed, he progresses as if he had BMD. I can't wait to hear Dr. Wong's opinion whatever that may be.

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My son is 71/2 and we just found out he has duplications in 13-21 - He is still very active, rides a bike and scooter and plays baseball.  He has a mild positive Gower when getting up and down from the floor and is a bit slower than other kids his age.  Other than that everything is normal.  Anyone else out there with this duplication.

 

Hı Lisa,

This is Semra İnanç From Turkey. I have a son who has an exon 2 duplication like your son.  his name is Yiğit.He is 5 years old now. We have learned this condition since last july. Also,  I'm a physical therapist. You guess that you and your family are very important for us. Our doctor gave us prednisolen 5 mg per day since last december. I'm wondered What is your medical programme? and how is Bradley right now? İf you accept to contact with me,  I want to share something. I'm looking forward your answer. my mail adress is smrnnc@hotmail.com

 

Hi Semra! Bradley is taking deflazacort 30mg daily. It is an alternative to prednisone. We get deflazacort through the mail from Master's Marketing in the UK. He used to take prednisone (high weekend doses), but he began to gain too much weight and was very moody on the weekends. Dr. Wong prescribed the deflazacort in June 2008 and his strength and weight have improved. Part of the weight improvement was making better nutrition choices and being on metformin for steroid induced diabetes for the past year.  We found this out through glucose tolerance testing. Bradley is also on lisinopril and carvedilol for mild cardiomyopathy, fosamax for borderline osteoporosis, omeprazole for gastrointestinal reflux. He also takes a multiple vitamin, vitamin D, calcium, CoQ10, melatonin (to help him sleep). We also do daily stretches (which my husband does since he is stronger) and he wears AFO's at night. He also has hand splints but he is not very compliant with wearing them. The pulmonologist recently added deep breathing exercises. Bradley is 14 years old now. Bradley is really doing amazingly well. He is still walking even though MRI's of his muscles say he should not be walking.

Lisa

Thanks for answers, I am grateful to you for doing me a detailed explanation about your son.

Your information and experience is very important for me. All of you have been trying to cope  with the illness for a long time. I'l follow up Bradley's development. My son has good fonctional capacity now. He takes some nutritional supplements like Bradley . 

thank you again

 

with my best wishes

 

semra



Lisa Jones said:

Hi Semra! Bradley is taking deflazacort 30mg daily. It is an alternative to prednisone. We get deflazacort through the mail from Master's Marketing in the UK. He used to take prednisone (high weekend doses), but he began to gain too much weight and was very moody on the weekends. Dr. Wong prescribed the deflazacort in June 2008 and his strength and weight have improved. Part of the weight improvement was making better nutrition choices and being on metformin for steroid induced diabetes for the past year.  We found this out through glucose tolerance testing. Bradley is also on lisinopril and carvedilol for mild cardiomyopathy, fosamax for borderline osteoporosis, omeprazole for gastrointestinal reflux. He also takes a multiple vitamin, vitamin D, calcium, CoQ10, melatonin (to help him sleep). We also do daily stretches (which my husband does since he is stronger) and he wears AFO's at night. He also has hand splints but he is not very compliant with wearing them. The pulmonologist recently added deep breathing exercises. Bradley is 14 years old now. Bradley is really doing amazingly well. He is still walking even though MRI's of his muscles say he should not be walking.
Christopher has a duplication of exons 6 and 7.   He is 10.  He's been on steroids for 7 years and I would say he's on track for "normal" progression of Duchenne.   
I haven't posted here in forever. Avery is now 7 1/2 and has a duplication of exons 3-7. Although I was very hopeful a few years ago, I see a "normal" progression of Duchenne happening with him now. I hope and pray every day that research will include our boys duplications, but don't know how to make this a reality. I have spent countless hours fundraising for Duchenne, yet I feel our boys our being left behind.

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