Rare Disease Patients Need 21st Century Cures Now

Although there has been a huge public outcry over the cost of prescription drugs, there has been little public discussion about the need for innovation for patients who don’t yet have an effective therapy. It is estimated that 1 in 10 Americans suffer from a rare disease, and only 5% of rare diseases have a treatment approved by the Food and Drug Administration (FDA).

However, the toll of rare diseases goes beyond patients, with potentially devastating impacts on families and other loved ones. The average pemphigus and pemphigoid patient sees 5 doctors over 10 months in search of a diagnosis, often delaying the start of treatment. Many rare disease patients wait an average of seven years before getting an accurate diagnosis. Even if a patient obtains an accurate diagnosis, chances are there are no FDA-approved treatment options. The small size of patient populations makes the massive investment needed for lengthy research and development needed to create rare disease therapies unattractive to most pharmaceutical companies.

I was diagnosed in 2007 with cicatricial pemphigoid, a rare autoimmune blistering skin disease. Like others with a rare disease, I experienced delays in diagnosis and difficulty finding knowledgeable physicians. Eventually, I lost vision in one eye from the disease. The pain associated with my disease was severe, and the list of complications extensive. Although my disease can be treated, there are still no FDA approved treatments and no cure. No disease should be too rare for a cure.

The good news is that Congress can do something to help. The 21st Century Cures Act, which passed the House of Representatives with broad bipartisan support (a rarity in the current political environment), could provide billions in new funding for research at the National Institutes of Health, the nation’s premier biomedical research institution, along with needed funding to enhance the review of new medicines by FDA. What’s more, the legislation has crucial incentives, such as the Priority Review Voucher program to encourage the private sector to invest in developing new, life-saving therapies for pediatric patients, and the OPEN ACT, which would encourage companies to repurpose existing medicines for rare diseases like ours. This could potentially bring hundreds of new treatments to patients more quickly than traditional drug development. In short, this bill could be a game-changer for patients with both rare and common diseases.

But Congress has been debating this legislation for nearly two years and has yet to send it to the President’s desk for signature. If Congress fails to reach an agreement by the end of the year, all of the work on this legislation and the hope that it represents to patients will be lost. Every day, patients are losing ground to diseases and continue to go undiagnosed or untreated.

The IPPF urges you to contact your representatives and senators today to prioritize the 21st Century Cures Act on behalf of pemphigus and pemphigoid patients and their families across the country. Time is running out. and we cannot afford to wait any longer.