hi pat, just want to let u know that i am finding ppmd an absolutely brilliant resource and support. since my lovely wee nephew ben was diagnosed recently with duchenne, i feel as if i have become an expert on neuromuscular conditions. But we have to, as we have to take control for our boys. I think that you are an inspiration for all that you have achieved so far with pushing duchenne research abd treatment to where we are today. it is looking so much more promising. I recently sent u a friend request and would so appreciate to have u as a friend. God bless you pat and all your team. stephen beggs.
Apr 11, 2012
Do you know if there have been any studies on DMD boys and enzyme deficiencies? I met with a 5th generation doctor from India that says this is very common, and a cause of many problems with muscular dystrophy patients.
Thanks in advance...
Jun 18, 2012
Hi PatThanks for all your efforts for PPMD and DMD researchMy name is Kuldeep Singh.My boy is 4 years 3 months old .His name is Neil Singh.He is our only child.We are based in Auckland, NZHe has been diagnosed with DMD last year with exon 41 duplicationWe can see that he is going downhill day by dayI saw a webinar for duplication research updateHopefully it will help Neil in futureJust need your advise on some tricky situation that we have got at momentWe saw a trial starting soonhttp://www.catabasis.com/clinical-trials-cat-1004-movedmd.phpRequirements for participating in this clinical trial include: Boys with a diagnosis of DMD (any confirmed mutation) between the ages 4 and 7 years Ability to walk independently No corticosteroid use within the past 6 months and no plans to start corticosteroids in the next 6 monthsOur boy will be starting steroids soonMy wife enquired Joanne Donovan, MD, PhD (Chief Medical Officer at Catabasis) about Neil's participation in trialWe got a response by email"Regarding your son and potential participation in the MoveDMD trial, atthis time, our regulatory approval and conditions limit us to the U.S.only. This is confounded by the fact that patients residing outside theU.S. may not be permitted to travel back and forth with investigationalproduct. While some circumstances exist, we are currently working throughhow, if at all, we will be able to support and enrol potential patientswho reside outside the U.S. I know this is not the news you want to hearbut would like to keep in touch with you should circumstances change."Joanne was kind enough to call us and discuss it,her concern was if we will beable to take any medication to NZ after trialWhen we asked our Neurologist has advised to suggest "That your doctor is supportive and that I could negotiate with NZ regulatorybodies to try to ensure the medications could enter New Zealand and feel confident I could make this happen."We are really confused about this situationNeil is 4 years and 3 months nowWe want him to get any possible treatment if it can help to save himOn the other end we are not sure if we should start his steroids or not aswe are at the verge of starting themIt is really different here in NZ as compared to US in terms of awareness about Duchenne, trials etcThere is no dedicated Duchenne Centre hereDoctors are very helpful however most of times we are scared about our boyWhenever we see our Neurologist, we get more confusedCan you please advise your thoughts about this as I believe that youmay have an answer for this
Jun 22, 2015