Started this discussion. Last reply by Colleen Jun 11, 2009. 6 Replies 0 Favorites
Started this discussion. Last reply by Christine Piacentino Apr 25, 2009. 8 Replies 0 Favorites
Posted on March 8, 2018 at 2:00pm 0 Comments 0 Favorites
There are hardly words to capture the impact our unified community had on Monday. We had traveled from all over the nation to convene with federal policymakers, industry partners, and payers for the Duchenne Patient-Focused Compass Meeting: Navigating our Pathway Forward. Nested within PPMD’s…
ContinuePosted on January 10, 2018 at 10:00am 3 Comments 1 Favorite
(Photo used with permission from family.)
“DMD gene therapy went well. It was started at 1:15 PM and ended at 2:27 PM”
On Thursday, January 4, I received this message from Dr. Jerry Mendell accompanied by the photo above – Dr. Mendell at…
Posted on January 3, 2018 at 12:00pm 0 Comments 0 Favorites
When our children are hurting, we go to our medicine cabinets and take great care to select products that will ease their pain. Reduce the fever. Relieve the ache.
In Duchenne, we know that the products and supplements prescribed often come with side effects. But we carefully weigh those side effects against the risk of doing nothing. We consult…
Posted on December 7, 2017 at 10:30am 0 Comments 0 Favorites
This holiday season, PPMD is asking you to support our ongoing Gene Therapy Initiative. Gene therapy has dominated the headlines this year in a number of diseases, including Duchenne. There is such…
ContinuePosted on December 4, 2017 at 10:30am 0 Comments 0 Favorites
So much has changed in the Duchenne research landscape since we were founded back in 1994, but your commitment has been a constant since our story began.
You’ve never stopped fighting, and the promise for our community has never been greater, with recent breakthroughs in gene therapy, one of the most exciting approaches we’ve ever seen. Today, we…
© 2023 Created by PPMD.
Powered by
Badges | Report an Issue | Privacy Policy | Terms of Service
Comment Wall (87 comments)
You need to be a member of PPMD Community to add comments!
Join PPMD Community
Hi Pat
Thanks for all your efforts for PPMD and DMD research
My 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, NZ
He has been diagnosed with DMD last year with exon 41 duplication
We can see that he is going downhill day by day
I saw a webinar for duplication research update
Hopefully it will help Neil in future
Just need your advise on some tricky situation that we have got at moment
We saw a trial starting soon
http://www.catabasis.com/clinical-trials-cat-1004-movedmd.php
Requirements 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 months
Our boy will be starting steroids soon
My wife enquired Joanne Donovan, MD, PhD (Chief Medical Officer at Catabasis) about Neil's participation in trial
We got a response by email
"Regarding your son and potential participation in the MoveDMD trial, at
this time, our regulatory approval and conditions limit us to the U.S.
only. This is confounded by the fact that patients residing outside the
U.S. may not be permitted to travel back and forth with investigational
product. While some circumstances exist, we are currently working through
how, if at all, we will be able to support and enrol potential patients
who reside outside the U.S. I know this is not the news you want to hear
but 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 be
able to take any medication to NZ after trial
When we asked our Neurologist has advised to suggest
"That your doctor is supportive and that I could negotiate with NZ regulatory
bodies to try to ensure the medications could enter New Zealand and feel confident I could make this happen."
We are really confused about this situation
Neil is 4 years and 3 months now
We want him to get any possible treatment if it can help to save him
On the other end we are not sure if we should start his steroids or not as
we are at the verge of starting them
It is really different here in NZ as compared to US in terms of awareness about Duchenne, trials etc
There is no dedicated Duchenne Centre here
Doctors are very helpful however most of times we are scared about our boy
Whenever we see our Neurologist, we get more confused
Can you please advise your thoughts about this as I believe that you
may have an answer for this
Hi Pat,
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...
Tammy
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.
Hi Pat, I am happy for you to use photo of my boys. I also got an email fron Wil Nolan for the same request. Wishing you and your family a Merry Christmas...
Lisa Guest
I m Adnan Sarwar from Pakistan. i m suffering from muscular dystrophy
i m intrested to get some new research information and meet with other
md and their family for discuss issues related md.pls help me in this
connection.
Dear Pat,
Thank you so much for responding back. I would love to speak with you. What time tomorrow (Monday) would be a good time to talk to you? My phone # is 847-856-1201 and email address is momsangel0507@aol.com. I do have your cell phone # and will be happy to call you anytime you are available. Take care and thanks again.
Sincerely,
Julie Leston
Hi Pat,
I just wanted to let you know how happy I am to hear about the Super Bowl & the awareness that it will bring. I also wanted to let you know that my Minister Rev. Richard Young spoke of you & the article of you & PPMD in the New York Times. He said so many nice things about you & how your story touched his heart. His sermon was called "When God comes down". After the service I gave him a hug & thanked him for speaking about DMD & let him know that he has brought awareness to our congragation. Just wanted you to know that.
God Bless,
Suzanne Desmond
Orchard Park, NY (Buffalo, NY)
Hi Pat - Just read the article in The New Yorker. Excellent article. And whoever wrote it, sure did alot of background work. Really enjoyed it.
Happy birthday! I hope this year is the best year yet for you! I hope Tom is doing well too and of course, your girls. Thank you for your leadership, your tenacity and for all you do - Best -Char Burke
View All Comments