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.

Views: 867

Replies to This Discussion

Avery just turned 4 and he has a duplication of exons 3-7. So far, he is doing very well. We just visited Dr. Wong less than 3 weeks ago and she said that in her opinion, duplications seem to be milder than deletions. Although she can't predict our son's ultimate outcome, it really gave my husband and I a sense of renewed hope that he will be walking for a long time to come.
My son, Nick, has a duplication of exon 3 and 4. I was told in the very beginning from the local doctor my son's condition was a slower progression but at 15 he would lose ambulation. He said Nick had a duchenne outlier progression. Nick lost ambution at 15 years of age.

Dr. Wong is really great. Bradley looks great. We just need to keep pushing as hard as we can for research monies so all our children can be helped. I believe we need and will find a cocktail to help all the children. It is just a matter of time. I don't know when it will happen but without support and strength in numbers to push it will not happen soon enough. So each of us must do what we can to push for awareness. Perhaps this new forum can help to do that for it in terms of family and friends reading it and understanding the important role they can play to help our children.
Dr. Wong's comments to you on duplications sounds very reassuring. Thanks for sharing.
I agree that we really need to push for more research and more awareness. It'd be nice if Bradley can at least walk til age 15. He has said to me before he doesn't think he will stop walking. I believe he really knows in the back of his mind that he probably will eventually lose ambulation but I think he's trying his best to have a positive mindset.
very interesting that Dr. Wong said duplications seem to be milder than deletions. We go to Dr. Wong too and I don't recall her saying that....albeit, Will's duplication is 54-57. I did have a geneticist from Baylor tell us that we should do a muscle biopsy b/c he was near the BMD area of the gene....We were told by docs not too...I think most duplications are generally in the 1-10 are of the gene....Did Dr. W say why the duplications were milder?
Thanks.
Char
HI Julie,
Interesting on your write up that you were also told that duplication was more mild...and loss of ambulation wouldn't be until 15 yrs. Where do you go for care and who is your all doc? I always was under the impression that duplications were so rare - that is if 1 out of 3000 boys have DMD, then only 6-15% of those have duplications, then how were docs to collect enough stats to have opinions about it....But, don't get me wrong...milder is great....Char
I don't know what Dr. Wong based her opinion on other than patients she has seen over the years with duplications. Because it was our first visit and we were trying to absorb so much information in such a short period of time, we did not go into details. My thought would be that it was based on a number of factors including the where in the gene the duplication was located, range of motion and other factors that the patient presents.
Hi Char,

We have met I believe at the conference in July last year. You had business cards like Lori. Your son is very cute.

The MDA doctor in Sacramento told me my son had outliers duchennes and that by the time he was 15 years old he would no longer walk. He told me the end result all ends up the same, just a little slower then duchennes, per the Sacramento MDA doctor. The SF MDA doctor had told me my son was most likely a Beckers because he had good strength to hold his head up. It was a standard test they did to determine the type of md.

I take my son to Brenda Wong for his care. He goes once a year because that is about all I can afford. He no longer walks so this year will be a challenge traveling by plane as last year was a bit of a challenge.

I can reach Brenda's office quicker then I can reach the Sacramento office to get answers. As you know Brenda is great. Now the SF MDA clinic which we have not been to for about 2 years is most likely to respond quicker to my questions then the Sacramento office where I live. I believe we have good doctors in these California clinics but they are overworked and need funding. Some have lost the belief you can change the face of duchennes.

As anyone who knows Brenda, she is a fighter and looks at everything to help ensure our children have the best of care. Cincinnati should be a role model for other clinics in terms of everything including how they are able to budget for it all.

Then there are the doctors who do not care and do not stay on top of things. They should be removed from seeing our children and families.

I hope this answers your questions.

Take care, Julie
Thanks Julie...for the reply. I grew up in Ca - Southern CA - Pacific Palisades to be exact. We go to Dr. Wong too and she is great about responding. Julie - how old is your son? Do you give your son Arginex which is a supplement like Nitro Fuel? What about glutamine or creatine? Is your son on the new type of deflazacort which is from Spain? Masters Mkting said the Calcort brand was no longer available....and this new one seems to be causing behavior issues as well as it appears higher strength....Thanks.Char
Our son Tyler has a duplicaton of 14-17. He started using his wheelchair full time just before his 11th birthday.
Hi Kim. Is Tyler 11 or 12 now? My son just turned 11 at the end of March so maybe he and Tyler are close to the same age. Is your son on any steroids?
Lisa,

Bradley looks great! I am sure all will go well with Dr. Wong....keep us posted....take care, Julie

RSS

Need help using this community site? Visit Ning's Help Page.

Members

Events

© 2019   Created by PPMD.   Powered by

Badges  |  Report an Issue  |  Privacy Policy  |  Terms of Service