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What duplication does your son have?

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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Permalink Reply by Kim Simpson on June 7, 2008 at 7:51pm

Austin has a duplication of exon 46-47. He is 11years old and is still walking. He is doing very well. He also goes to see Dr. Wong in Cincinnati. I am glad to here what Dr. Wong said that usually duplications have a slower progression.

The medicines that Austin are taking are Deflazacort, Lisinopril, Stratera(for attention problems), C0q10, Omega 3, Calcium, Vitamin D, and a multivitamin. I think that these medicines have a impact on how good he is doing also.

Permalink Reply by Lisa Jones on June 7, 2008 at 9:41pm

Hi Kim. I'd like to start Bradley on lisinopril. Our neurologist at St. Louis recommended it but our cardiologist didn't. He said he was disappointed with the neurologist for suggesting it based on one study showing that it prevented cardiomyopathy in DMD. He recommended that we wait until cardiac changes show up before starting it and he really stressed the side effects making me unsure what to do. So, I decided I would wait and see what Dr. Cripe recommends after seeing Bradley. Right now he is on prednisone 120mg twice weekly, CoQ10 150mg daily, multivitamin daily, calcium w/ D 1200mg, and prevacid 30mg. He hates taking all these medications especially when the prednisone is added. I also would like to switch to deflazacort.

Permalink Reply by Tina Klingaman on June 19, 2008 at 10:40pm

Derek has a duplication of exon 46 & 47. He sprained his ankle at 10 years old and really never walked much after that. By the time it had healed, he really couldn't walk much at all.

Permalink Reply by Lisa Jones on June 19, 2008 at 11:15pm

Tina, the sprain must have been difficult especially since it contributed to the loss of ambulation. I fear we don't have much time before Bradley is not able to walk too. He has declined in the last few months, I feel.

I wanted to update a few things about Bradley. He definately has DMD, not BMD. His Thigh MRI showed major muscle deterioration. Dr. Wong is switching him to deflazacort 30mg daily and in the meantime, we are giving prednisone 20mg daily. Also Dr. Cripe started him on lisinopril because the the Heart MRI showed the heart is not squeezing as well as it should. We are getting ready to do serial casting on his contractured ankles. We finally found a orthopaedic doctor who has worked a lot at Shriner's to to the serial casting. Hopefully he will follow CCHMC protocol.

Permalink Reply by Tanya Fleming on June 23, 2008 at 10:22pm

My son Joshua and Justin have duplications in the 53-57 Exons. My daughter has the same duplications, so that makes her a carrier of DMD. It is amazing what they can tell you now days. Because back in 1988 they hardly knew anything. They had just discovered the distrophin gene in 86 I think?
I think we are really getting closer to a cure for DMD. Of course it has to be the biggest gene in our bodies lovely huh!! Is anyone going to the conference in Pa?

Permalink Reply by Char Burke on June 24, 2008 at 1:59am

Tanya,
First of all, I really admire your attitude and wanted to tell you I enjoyed your family photos. I am wondering if your boys have been on steroids at all? I don't see it when I see the photos of their faces....Just wondering.
What a great family you all have.
Char Burke

Permalink Reply by Tanya Fleming on June 24, 2008 at 8:09am

I am glad you liked the pictures.
No They have not take any steriods. Joshua my middle one took some for about 2 months the 10 days on and 10days off, but his behavior was unbearable so we decided well behaved and happy and in a wheelchair was better for them. I don't like the effects that they had, but that is for each parent to decide. We have been happy with our decision. I have always taken control, not the Drs. I take their advice, and apply what I feel will help, but we are the ones that have to live with these wonderful children and care for them, not the Docs.

Permalink Reply by Amanda Rudd on July 5, 2008 at 4:12pm

Hello Everyone! My son Cade has a dulication of 45. I have met no one that has this type of duplication. I have been reading articles that suggest that there is a cure in the making. It has something to do with AON. Anyone familiar? My son just was diagnosed in the middle of june, so I am really knew at all of this stuff, so any advice would be great!!

Permalink Reply by Char Burke on July 9, 2008 at 2:49am

Amanda - So sorry to hear about your son's recent diagnosis. It does get better and you will see how much the PPMD gives you comfort and information. You mention AON - that's exon skipping using a specific type of compound. The compound is formulated so that is reads through the error. For i.e., if your son had 45 duplication - you would have to skip 44 thorugh 46 - I think...could be wrong on that. It's complicated with duplications. Has he had a muscle biopsy? There is alot of info on the PPMD site for you to read.
Hang in there - there is so much being done for care and management now. Boys are living longer.
Char Burke

Permalink Reply by Kelli May on July 21, 2008 at 4:13pm

Elijah has duplications of exons 4-7. He is almost 9 and doing very well. He is on deflazacort and soon to start growth hormone therapy.

Permalink Reply by Erin Green on July 30, 2008 at 2:01pm

My son has duplications of 2-7. We are thinking he has BMD because that's what my brother has been diagnosed with, but we aren't totally sure yet. He's only 2, but is showing some signs already....

Permalink Reply by Jen Portnoy on July 31, 2008 at 12:50am

Javier has a duplication but it is just of one letter within exon 37. It is a frameshift insertion. According to Steve Wilton, it would be so incredibly easy to fix with exon skipping and if corrected, he would enjoy very healthy dystrophin production. However, also according to Steve Wilton (and a couple other researchers I've shown his mutation to, it is likely to be the last mutation that would ever be addressed, as he is the only person in every database we've scoured with that mutation.
Still, we feel hopeful about other potential treatments, like the work being done with utrophin.
www.hopeforjavier.org