PPMD Community

We are just two days away from probably my favorite holiday. And I am writing a message to you, like I always do, in my little home office in Middletown before I leave town for Thanksgiving.

I am surrounded by photos of my family and normally would spend a few moments feeling nostalgic. Chris and Patrick permeate every corner of the house, and for some reason I always find their presence particularly palpable in this little nook when I sit down to write.

But this year feels different. This Thanksgiving I have more to be thankful for than I have in a long time. There’s a new picture hanging on my wall of a beautiful little angel that has come in to our lives — my granddaughter. I know I’m not the first grandmother and that there are lots of beautiful children born every day…but this is really the most perfect baby ever. I had four kids myself and this one is still the most magnificent!


The blessing of having our granddaughter in our life this holiday season, though, is bittersweet. When I am holding her, changing her (who knew, it’s just like riding a bike! A smelly bike, but still…), feeding her, just being quiet with her—I can’t help but think of the two uncles she’ll never know. They would have spoiled her rotten and taught her all the silly, inappropriate things uncles teach you. She’ll know Uncle Chris and Uncle Patrick because we’ll tell her about them. But she won’t know them.

I think “bittersweet” captures this past year in the Duchenne community, as well.

There’s been bad news. Many of us are still reeling from the news Sarepta announced last month, that an NDA won’t be filed with the FDA until mid-2015. We also lost some real heroes in this community. Far too many. I lost two friends in particular—Scott Sands and his beautiful wife Rebekah. Theirs was a love story you wouldn’t believe if you saw it in a movie. But it was true and one of the purest loves I have witnessed.

Until there is a cure for Duchenne, it’s hard to talk about victories in our community. But these last few months have had their share of landmark moments and progress that I think will only bring us closer to ending Duchenne:

  • Translarna (ataluren) received conditional approval in Europe and will aim for the same result in the U.S. And we expect to hear about NDA filings for eteplirsen, drisapersen, idebenone, and tadalafil in 2015 as well.

  • Representatives from the entire Duchenne community (families, foundations, researchers, scientists, care providers, industry, government officials, and people with Duchenne) united to develop the first-ever patient-initiated draft guidance. The guidance has been received and discussed internally at the FDA and we are hopeful that they will release their own guidance early in the new year. Our guidance has been precedent-setting in the rare disease community and next steps are not just being monitored by organizations in the U.S., but internationally.

  • Congress passed and the President signed into law the Amendments to the MD-CARE Act. This is the single most important piece legislation for the muscular dystrophies and passing these amendments help ensure that our government will give Duchenne the priority status it deserves.

  • PPMD’s benefit/risk study was published in Clinical Therapeutics. The information gathered thanks to you sharing your stories so candidly should inform the FDA’s benefit-risk assessment of emerging Duchenne therapies.

  • Our community registry, DuchenneConnect, was selected to participate in a national effort to integrate health system and patient report data to revolutionize the way clinical research is conducted.

  • PPMD’s 20th Annual Connect Conference brought together our largest, international group of families and experts to date for an experience that was indescribable. Not only did it connect us with the leaders in the Duchenne space, it reminded us that we are not alone in this fight. And…we had a flash mob. Fun and informative my favorite combination.

Finally, one of the most significant changes for PPMD, we welcomed Annie Kennedyand soon will welcome Dr. John Porter to the PPMD family. To have such talented, smart, and passionate people who care so deeply about this community join our team—well to me that is the ultimate definition of “sweet”!

I look at my granddaughter, and I must be thankful for all that this year has given me and my family. And I look at this list of what we have done as a community, and my heart swells with gratitude for all of you that have stood alongside us — some for 20 years, some maybe just for the last few months. Our approaches may differ, but our goal is the same: end Duchenne.

Despite all the heartaches that we experience and will continue to experience, we see strength…together. For that I am always grateful.

Best wishes for a happy holiday,

Pat's Signature


Pat Furlong


P.S. We all have so much to be thankful for. In between turkey bastings, think about three people in our community you’re grateful for. Express your gratitude in a Facebook post, tag them using the hashtag #PPMDthanks, and ask them to pass the message of thanks along to three more people. I know I won’t be able to pick just three—I’m so grateful each and every one of you for all that you do every day to end Duchenne. Thank you!

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