I have read a few articles this week about rare diseases some of which I posted on our facebook page. The articles capture the momentum building for drug discovery by private pharmaceutical and biotech companies to find cures and treatments for the 7,000 rare diseases. Driven by the profit motive and a $1 trillion market opportunity, these companies are developing new drugs to replace their prior blockbusters that are coming off patent protection. With price tags ranging from $50,000 to $500,000 and insurers willingness to pay for these treatments, there is hope on the horizon for individuals impacted by rare disease.
Strategies designed by patient advocate groups to attract the attention of the pharmaceutical and biotech companies are proving successful. The Cystic Fibrosis Foundation is a case in point as this week they announced a joint venture research project with Genzyme. Approximately, 30,000 people in the US have cystic fibrosis, a much higher incidence than rasmussen’s and a disease about which more is known, but a rare disease nonetheless, and a model for other patient advocate groups to follow.
Patient registries are an important tool and necessary step to attract research interest by the pharmaceutical companies. These registries create a ready made infrastructure of patients to attract funding for research and testing essential to drug development. As a unorganized scattered group of unidentified individuals, a rare disease will not attract the attention of the drug discovery process. It’s time to organize!
The rare disease movement is a global phenomenon. In New Zealand this week there were protests in the streets against the government as it refused to pay for a treatment for Pompe disease. Pompe disease was depicted in a movie a few years ago, Extraordinary Measures (on my top ten rare disease movie/documentary list) that starred Brenda Fraser and Harrison Ford. The treatment would impact 5 people in New Zealand with a price tag of $300,000 per person, but the larger issue attracting attention is the government’s role in treating rare disease.
Wouldn’t it be great if all of the families impacted rasmussen’s and the other rare epilepsies banded together and marched on Washington DC demanding more funds from the NIH so our kids and future families wouldn’t have to undergo hemispherectomys? Please continue to support our efforts and donate to the RE Children’s Project. Thank you.