I don’t know about you but I felt last week the Duchenne community was hit with our own hurricane, similar to the 5th deadliest hurricane in US history, 2005 Katrina. I’m not from New Orleans, but have a good friend, Diane, whose home was washed way when the levee system failed and neighboring parishes flooded. The 175 mile winds took everything - house, furniture, photos, memories, life as she knew it. While nearly 2,000 people lost their lives, her family managed to survive. She was in Cincinnati at the time, desperately seeking information and connections to those she loved. I could not imagine how she felt during that time, but saw it on her face: pain, desperation, sadness.

I cannot relate to Katrina, but on Saturday I felt like I was seeing the aftermath of our own ‘hurricane.’ The wind died down and the reality hit. As a community, we were left in the aftermath, trying to makes sense of the news, trying to find some meaning, some hope.

I have been following the discussions, the criticism, the sadness . These trial results are not what we expected or wanted. We all wanted a win for Duchenne. We depended on it as if it would feel like a neon sign that this one win would lead to more, would mean the stars were lining up just right. And sometimes when we hear bad news, everything else in the world looks bleak.

I must have asked Tom how he was feeling a million times, thinking the universe must be against us. Finally he told me I was simply not allowed to ask. I went to the nursing home to see my mother and this sweet 94-year-old German Catholic woman who taught me that "life is not a rehearsal and while you may not be able to control the boulders thrown in your path, you will find a way to walk around, over or compensate for them”; this lovely woman looked at me with tears in her eyes and said that ‘they’ were giving her pills to hurt her and there was no way to reason with her. She was afraid and I could not convince her that I knew what pills she was taking, that I was in contact with the doctors, that I would keep her safe. Senile dementia. I left feeling defeated, helpless. And my daughter Michelle moved into her new flat in London (Primrose Hill, Princess Lane), the boiler failed, and she had no heat or hot water. At that moment, I wanted to fly to London and bring her home to my safe house. (If you were to meet some of my relatives, you would understand that they typically do not allow children to move far from home). I called my other daughter Jenny to make sure she was safe. I had no reason to doubt it, but it felt like the universe had changed on its axis.

The discussions on the website reflect anger and sadness. We are all grieving. Discussions related to trial design – was it the right design? Was the 6 Minute Walk Test (6MWT) the best or worst choice as an outcome measure? How do you measure benefit in a population where clinical variability (function, progression, cognition) are highly variable? Should the stratification of the trial have been more precise as in eliminating boys who could not walk a certain distance (<350m) in the 6MWT? Too many sites/wrong sites? How much dystrophin expressed? What are the individual responses? Why can’t you change course in the middle of a trial? Do something different? Why suspend all trials? What about compassion? And what next?

I find the criticism and the desire to point the finger at someone or something incredibly sad and a bit overwhelming. I understand it as I have been angry since Duchenne entered my home, my vocabulary, my every thought. But it is DUCHENNE I hate, not the people. I thought about my own life and the decisions I have made and how with additional information, I might have made different decisions. I have made good decisions, bad decisions, ‘meh’ decisions (those are not so important decisions), and have had the opportunity to revise and re-do and some of the time, rethinking and redoing has improved the original decision by leaps and bounds. Pity that we don’t have a crystal ball.

On Saturday I received a call from a mom who had been contacted by another mom, whose son was not in the trial. The description of the call was sad – pointing the finger, criticizing people, recommending litigation. I was at first angry and then sadness fell on me like a wet blanket.

After that unsettling call, I drove to the Dorothy Lane Market in Dayton. I bought 3 way too expensive cookies (Laura’s large sugar cookies @ $3.00 per). If I was in New York, I would have gone to the Magnolia Bakery for cupcakes, but I was in Middletown, so the choices were limited. I ate all 3! I think it took less than 5 minutes to consume all of them, what may be upwards of a total of 3000 calories. While they were going down, I loved it. I thought it was perhaps the best investment ever. Then I went to my favorite shop in Hyde Park and tried on pants for summer. I could not button them at the waist and the way they looked in the mirror did not fit with the image I had in my head. So I left. In retrospect, I should not have eaten the cookies, should not have stopped running after freezing my bottom off in Florida in January, and should not have York Peppermint Patties sitting on my desk. Bad decisions and if I could get a do-over, I might make other choices.

Divorce/partners –another example. You marry your partner because it looks like a good decision at the time. Over time you learn more, life throws in a few boulders, and you find you need to make a different decision. And you do and the second time around it is sometimes better. Different factors, new knowledge, experience, wisdom. Your primary endpoint changed? Secondary endpoints different?

All this is trivial in light of a clinical trial that may mean the difference between maintaining/improving function or not and extending the length of life. But in some strange way, there are similarities. Decisions are made based on knowledge at the time. Trials are developed with advice and expertise from a range of individuals to include parents/patients – experts ( specific disease process, drug development, regulatory, business model, etc) and with all of that in mind, trials are conducted and data analyzed. The data informs and based on recommendations (in this case) the trial is suspended. Keep in mind, SUSPENDED is not ENDED. SUSPENDED to regroup, rethink, analyze, and clear the path forward.

I hear the phrase "compassionate use", but the case (based on current data primary /secondary outcomes) is not there.

So, we have to wait. Wait for sub-analysis. Wait for the plan. And once the path is developed, we will do whatever it takes to move toward success. Like you, I have heard the anecdotal stories –both positive and negative. I remain a believer –that Duchenne will have treatments and in the near future, that suppression of premature stops is a promising strategy. That exon skipping, utrophin upregulation, myostatin inhibition,
increasing nNOS – are all potentially promising.

But I am not ready to throw arrows at anyone or anything...except Duchenne.

We are all reeling in the aftermath of our first (and hopefully only) hurricane. We have all fallen apart in our own ways. Let’sgather, like my friend, go back and sift through what we have learned and moveforward together. Stu Peltz and everyone at PTC are committed to our sons. There is a way forward and we will find it.

P.S. Diane sorted through the rubble and found a picture of her dad in perfect condition.

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Comment by BOZ4J on March 14, 2010 at 1:33am
Does anybody has information how successful is PCT 124 in treating cystic fibrosis?
Comment by BOZ4J on March 14, 2010 at 1:30am
In my opinion there must be reason that dDystrophin gene is the biggest in the human DNA. Is not accidental , like our kids errors in it . Nature is very sophisticated and there is reason behind that gene size .. 22 million pairs versus 20 thousand on average size of any other genes. The ROLE of the Dystrophin gene is wider then science think and discovered.
Comment by Mary Lynn Burns on March 11, 2010 at 1:32pm
Thank you for continuing the fight for all of us - My 6 year old grandson has DMD and we also lost everthing in Katrina. Fortunatly, it made me realize that much more how precious each day that we have with him is to be cherished. Although there is happiness and dissapointment on each of our own journeys ....we all have today .....and can only hope that things will be a little better tomorrow.......
Comment by Ofelia Marin on March 11, 2010 at 5:51am
Obviously we are all disappointed beyond words. We needed this to work. We needed to see that at least a fraction of the boys can be treated NOW. Ataluren was presented as "very promising" and even if it was clear that only an incredibly low number of tested drugs actually hit the market the hope that we can finally win a set against Duchenne was there. Ataluren was that green light we expected to see at the end of the tunnel after years and years of research, preclinical and clinical work.

As you very well know we do not have time, so the fact that there are other “promising” drugs in the pipeline in preclinical stages, years away from starting clinical trials or even in the first stages of clinical trials is not very comforting to me at the moment. Unless one of us has a crystal ball and tells me that he/she sees DMD treatments approved soon, I will be skeptical. Unfortunately none of us has that and none of us can say with certitude that treatments will be approved for DMD in the near future.

My only hope at this point is that Ataluren data will be analyzed soon, important questions (some of them asked on this forum, some on others, some asked by people directly involved) will be answered and scientists/pharmas working on other possible treatments will learn from this before other promising treatments are tested.
Comment by tom evans on March 9, 2010 at 11:28am
Pat-we are devastated by the news on ptc 124,our son Benjamin was one of the original children in this trial and we felt his energy and flexibility had increased considerably,but didn't see much change in strength.Now it's time to move forward as quickly as possible because time is our enemy.My question is what other trials are coming up soon and is there any way to speed up the process.Along these lines,my brother has a friend that is in some internet community that has 150,000 members and has asked if somehow they could help.I'm not sure how they could help because right now I'm running on no sleep since last week,but if someone thinks they can,please let me know.my brother said he could personally talk with someone with ppmd if you're interested. Tom-Ben's Dad
Comment by nbpendley on March 8, 2010 at 5:09pm
Pat - thank you soo much for perspective and sharing it with the community! Important words for us all to hear. I believe it's the difference between living a grace filled life and a curse filled life. One will never have it's expectations met because it's always looking the wrong place to have needs met, but the other opens up a whole world to us and our boys!

I was at the MDA clinic with Caleb when I read the initial email on about the suspension. I think getting hit by a hurricane is exactly what I felt.
Comment by jacqui on March 8, 2010 at 3:30pm
Thanks Pat for those words.
Disappointing as this suspension is, a litigation is LUDICROUS and this is coming from someone whos son just started in the trial and got the news ONE day after the FIRST day of the non amulatory trial. Its really hard, but we have to look forward and not point fingers and fight this horrible and complicated disease. I appreciate Parent Project and PTC Therapeutics on this fight.
Comment by Gretchen on March 8, 2010 at 2:29pm
Thank you, Pat, for your wisdom and commitment.
Comment by Jacobs Mommom on March 8, 2010 at 2:02pm
My heart goes out to you Pat and the rest of the PPMD staff as well as those parents whose boys need Ataluren. I guess people handle disappointment, for lack of a better word, different ways just like people handled Katrina differently. For me the frustration is the time it takes for PTC to get back on their feet. I've never been a patient person:) Do I know what could have been done differently? Hell no! Do I wish that it could have been done differently and the outcome different? Hell yes! Just my two cents.
In no shape or form do I think that it was a waste of time because I do believe that everyone will learn from this but I do feel sorry for the parents who were getting their boys to take the Ataluren by telling them it would make them stronger. It's a bitter pill to swallow to them tell them that they can't take it anymore.
I think we all need to buy punching bags with DUCHENNE on them and have a go at them! Then no more indulging Pat or Joanna:)

Comment by Pat Furlong on March 8, 2010 at 1:38pm
It is unknown at the moment, but it is definitely on the table.

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