UPPMD – Treat NMD meeting in Budapest

If I’m telling you something you already know, forgive me. Treat NMD is a program funded by the European Union (EU) and lead by several groups in Europe. The purpose of Treat NMD is to build an infrastructure that would be able to facilitate care, clinical trials, treatment, and cure for individuals with neuromuscular disease, currently focused on Duchenne and SMA. They received 20Million Euros from the EU to organize and develop essential tools – registry, standards for care, outcome measures on the care side, and standardization on the scientific side (genetic testing, animal testing, etc).

I am a member of the STAC (steering committee) for Treat NMD and each year the Treat NMD group meets with their advisors to report on progress and next steps. It is wonderful to see progress (global registry, care considerations/standards of care) with CDC (thanks to your advocacy efforts!) and the development of outcome measures. You already know the 6 minute walk has been validated and used as the primary outcome measure in the PTC124 trial. You can expect to see the 6 minute walk as a primary outcome measure in the upcoming exon skipping trials (avi/prosensa). Outcome measures for the non-ambulatory boys are in development and with some luck (cross fingers and pray) you will see evidence of this before the end of this year.

It is frustrating, I know, on so many levels. ALL boys should be able to participate in upcoming trials. This is essential, critical, and fair – you know it, I know it, and we will keep pushing for it until it is set in stone.

While Treat NMD has made amazing progress in the last 2 years and is now poised and ready to perform clinical trials, I did mention that some of us have been waiting for the last many (many) years to see this happen, so amazing progress is amazing, but real progress is action – clinical trials, treatment, and cure. Enough with the infrastructure already, let’s move. 

2009 Advocacy Conference
It is amazing what this community can do. Last week 70 of us were on Capitol Hill, informing new members about Duchenne and meeting old friends. Our ‘ask’ is to increase NIH funding as the payline is now 8% or less, and to increase CDC’s program in Duchenne. Seems a simple ask, but in this economy with extraordinary needs, it is BIG and keeping Duchenne in the forefront is critical. Our advocacy efforts are perhaps the most successful fundraiser: more than $8 million /year in Duchenne research. Not bad. With the stimulus package, NIH will receive $8 billion dollars across the 22 institutes. This should improve the payline and hopefully the number of Duchenne specific submissions will be successful.

And last, one little story. After the Treat NMD meeting in Budapest, John Porter (NIH program director) and I had a few hours to walk around Budapest. We took the subway to the river and walked across the Danube to the castle. We walked up the steps to a very old church, one that had been badly damaged in WW2 and then again by the Russians on several occasions. It was obvious that the church had been wounded and repaired and wounded again. But it stood, strong and sound, filled with echos of past generations. John and I were amazed at the structure and the wonder of how people joined together to plan, build such a structure, and then survive under horrific circumstances. Together we went into the church and prayed. We prayed that together all of us are building scientifically strong and ultimately successful possibilities for our sons.

I thought about my own journey over the last 25 years. How I thought on that day Duchenne entered my life, that my life was over and my family would crumble. As I walked across the Danube River bridge and into that church, I realized that this journey, while difficult and sometimes filled with tears, is good in so many ways. I thought about how thankful I am that I have all of you in my life, people I would have never had the gift of knowing. There is a silver lining in Duchenne, though difficult to find on most days – I know all too well. John and I were alone in that church, but we realized all of you were there with us, praying to end Duchenne, stop it in its tracks for all of our sons, everywhere. I could feel Chris and Patrick smiling and sending their strength.

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Comment by merritta on February 25, 2009 at 11:54am
Pat you have done so much to keep us informed and I always look for what you have to say because we trust you and you give us hope. God Bless You. Merritta
Comment by Erin on February 22, 2009 at 11:18pm
Pat you are an amazing lady. I hope to meet you one day. You give me strength and courage to press on. Thank you for all that you do.
Comment by Susan Mahlock on February 20, 2009 at 3:13pm
Pat, Thank you for all the work you have done on all our sons' behalf. You have travelled far that is for sure!
I know that Chris and Pat were there at that church with you. God bless you! Sue, Bill, and Billy
Comment by djamel fathi on February 20, 2009 at 12:00pm
Thank you very much Ms PAT you give us hope for better futur.
Comment by Terry Porcaro on February 19, 2009 at 4:17pm
Dear Pat: I am so grateful for you and this site. Thank you for always keeping us informed about where you are and what you are doing for us. I love the story about you and John in the church. I'm sure your prayers were heard there. God bless you and thank you!!!
Comment by Aleksandra on February 19, 2009 at 2:43pm
Dear Pat, Thank you, you support so many people. I live in the middle of the little Netherlands and you and your people keep me up in times of fear and desperation,Thank you!!!!!
Comment by Jacobs Mommom on February 19, 2009 at 2:41pm

Just wanted to let you know how much we appreciate all that you are doing for these boys. If it wasn't for this site I don't know what I would have done.
Comment by Jenny Garofalo on February 18, 2009 at 9:32pm
Pat, I am more thankful than words can express to know you. I am a better person/mom/advocate because of it. thank you!

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