In the face of unimaginable difficulty, it seems that inspiration is sometimes hard to come by. In my journey, there are two men that I have looked up to: Mark Dant and John Crowley. I met Mark just a few weeks after Reed’s diagnosis at LDN World, the largest medical conference focused on the class of diseases to which MPS III belongs, Lysosomal Disease. Continue reading
Written when he was 9. Google his name and see who he was. Amazing story of an amazing boy.
I had the honor of presenting my old friend, Adam Nelson, a “Champion of Hope” award at the RARE gala last week. Adam is a 3 time Olympian and 2 time silver medalist.
We are proud to be a small part of history in the advancement of ULTRA/FAST. In this video Congressman Sterns tells our story, though he doesn’t use our name
I let Reed stay up a bit tonight and play with his sister. As I work from my office, I could hear his infectious laughter from the other room. He couldn’t settle down for bed and I am wondering if this is the start of something new. Fortunately, I think he just has my cold from last week.
Over the last 18 months I have shared the story of our struggle with our son’s condition. There are days when it seems manageable and days when it feels like a living hell. It seems like my world is filled now with people who only know me since my son’s diagnosis. So, for what it’s worth, I thought I would lay it out: the good and the bad and talk about what motivates me. The post is long, so sorry for that, but I think it gives you a feel for who I am and why I think the way I do. So, if that interests you, then read on.
It has been 1 year, six months and one week since Reed was diagnosed and I am tired. I am tired of riding this rollercoaster.
The Unlocking Lifesaving Treatment Act of 2012 (HR 3737) is giving the rare disease world new hope. Across the country, people with rare diseases (roughly 10% of the population) and others are coming together at the grassroots level to show support.
I have heard some of the criticisms of the bill, namely:
- It exposes the patients to greater risk
- It completely eliminates any burden to prove efficacy.
The standards for safety would not change. Safety is established during the first phase of drug trials. As far as I can tell, I don’t see any changes to requirements for establishing safety for new drugs.
Regarding efficacy, any accelerated approval requires post-market surveillance to prove effectiveness against clinical endpoints. Initial approval is based on biomarkers. This is nothing new.
The only thing new would be a change in the rules for getting a biomarker approved. ULTRA would prevent the FDA from requiring previous clinical data to qualify a surrogate endpoint. This data just doesn’t exist for many rare diseases. For diseases where clinical data is not available, ULTRA would ask the FDA to use valid science and our understanding of biology to qualify biomarkers that are reasonably likely to predict that the drug works.
Is this the right choice? You’re damn right it is. I do not want to wait until there is rock-solid bulletproof evidence that a drug works before I can treat my kid. I think that 99% of people who have terminally ill family members feel the same way. Anyone that says that the system is working is crazy. 95% of rare diseases have NO TREATMENT. By definition, that is broken. We need game changing new laws. New laws that will transform the landscape.
The world is changing. Information technology enables people to make their own decisions. Long gone are the days when people had to rely on a single group to “be their voice”. This is a new world of ideas; A world where each of us can watch congressional hearings on Ustream and don’t have to travel to Washington. This is a world where ideas spread fast and the grassroots can make their voice heard directly. When it comes to ULTRA, the rare disease community has spoken. We want treatment and we want it now.
We thank Congressmen Towns and Stearns for their leadership. By introducing this bi-partisan bill they have shown that the giving hope to people with rare disease is not a Democratic or Republican issue. Rather, it is a human issue. Drug development for this under-served population isn’t where it needs to be. Everybody with a disease deserves treatment.
Patient advocates have amazing power. The 1983 Orphan Drug Act enabled an entire industry treating rare diseases. However, the fact is it wasn’t enough. A huge portion of the 7000+ rare diseases are still without treatment.
This upcoming year, a number of patient groups have pulled together to endorse ULTRA, the Unlocking Lifesaving Treatment Act. It will remove key barriers to enabling accelerated approval for rare genetic diseases. We believe it will unleash a huge amount of biotech investment and result in many new treatments for those suffering from the rarest of diseases.