It's been almost a year since Gus was diagnosed with DMD. On the drive into work this morning, I was thinking about what I've learned about DMD since that November evening in 2009 when the doctor from Dartmouth called.
It comes down to four things:
- Duchenne Muscular Dystrophy is devastating. In the 149 years since the identification of DMD, that has not changed. We see it again and again in the numerous letters and cards we've received from people who have lost a loved one. Here's a quote from the most recent card: "Our son was born in 1983, we spent much of our lives devoted to giving him all the opportunities we could afford...he did everything he could with what he had, and he died in September, 2007..."
- Managed care offers a twinkling of hope. By having a neuro-muscular specialist, a cardiologist, a physical therapist, and an occupational therapist working together, boys with DMD have a chance at a slightly better and slightly longer life. It spite of mounting evidence to that effect, however, there are just two clinics in the US that offer such care. One is in Boston, at Mass General, and one is in Cincinnati, at the Cincinnati Children's hospital. A third clinic is planned at UCLA.
- Research is advancing, but DMD often advances faster. Gene and Stem-Cell therapies offer real hope for a cure, but in the year since Gus' diagnosis, we've already seen great hope dashed with PTC-124. We pray that we haven't entered Bill Murray's Goundhog Day of DMD news, hearing about potential treatments and cures that never go anywhere again and again.
- This is a rare disease. About 38,000 kids were born worldwide with it last year. That means, that since Gus was born, 190,000 families have heard or will hear the same devastating news that we received last November. Seems big, but it's not enough - if you restrict that number to births in the U.S., it's MUCH smaller - just 1182 children each year. That's the number that keeps us up at night. With so few patients in the world who can pay for treatments, will it ever make economic sense for big pharma to treat DMD?
That's where John Crowley, comes in. In 2003, Crowley, whose kids had Pompe disease (an even more rare genetic disorder than DMD - about 1/400,000 births - or 10 cases each year in the US ) created a treatment at Genzyme. He also created an economic model that makes sense to big pharma. The answer to the economics question? Charge A LOT - about $200,000 annually per patient to treat Pompe.
I'm no mathematician, but, based on those numbers, I think we're looking at about $20,000/year to treat Gus when a treatment comes along. When that time comes, we'll happily pay $20,000. At the same time, we can't fund a drug through trial.. How much does it cost to get a drug through all three phases of an FDA trial? I've posed that question to doctors and execs over the months, and the consensus seems to be about $20,000,000. Only Bill Gates or drug companies have $20 mil to spend on trials (are you listening Bill Gates?).
So what's our role?
We fund the research and the treatments. We find the doctors who are figuring out ways to improve kids lives and fund them. We find researchers who have research that's so promising that big pharma can't ignore it and fund them. We stay up later and get up earlier in order to make the single dollar that will break through it all.
In the end, we ignore the economics and we believe that this is the generation of boys who, with our help, will beat DMD. There are 38,000 kids each year who are counting on us. We can't let them down.