Advocating for the Rare Disease Community

The Challenge of Rare Diseases

11.07.13 | By Preet Bilinski

Have you heard of  Batten disease? Or  of Pompe disease? Niemann-Pick Disease? These are just a few of the 7,000 rare diseases that over 30 million Americans live with every day. Another rare disease that you may not be familiar with is Mitochondrial disease. Unfortunately, Art Estopian is too familiar with the disease. Art’s son, Arturo was diagnosed with thymidine kinase 2, mitochondrial disease, an inherited condition that causes progressive muscle weakness. Watch their story here. 

Art like most parents in his position has become a strong advocate for rare diseases. He was recently recognized for his hard work and tireless efforts in advocating for legislation and policy that benefits the rare disease community. He is one of the many that are helping provide rare disease patients with a voice. 

Relatedly, we held our first Twitter chat (#RarePOV) around rare diseases and heard from several of the voices in the diverse rare disease community. Prior to the discussion, we received a broad range of perspectives from parents to patients to advocacy groups on what the shared priorities and interests are of the community that should be discussed in our Conversations forum.

Over the past 30 years, nearly 3,000 potential treatments have been granted orphan drug designation, with more than 400 medicines being approved to treat rare diseases. Despite some recent victories, research into treatments for rare diseases still face challenges. Simply getting a diagnosis for rare disease can be a challenge. According to a recent Rare Disease Impact report it can take more than seven years for a patient with a rare disease to receive a proper diagnosis. Patients typically visit up to eight physicians (four primary care and four specialists) and receives two to three misdiagnoses. Recruitment of volunteers for clinical trails can be difficult since the patient population with a specific rare disease is typically very small, geographically dispersed and often children. However, genetic markers may make it possible to identify a patient population in advance and allow drug design with a smaller number of participants.

Furthermore, advances in science and technology, such as personalized medicine, are creating new opportunities to improve and expand research into rare diseases and the development of new treatments. The latest report on Medicines in Development for rare diseases shows that there are 452 medicines and vaccines in development. These therapies show the ongoing innovation that provides hope that physicians will have new treatment options for patients confronting a rare disease like Arturo’s, and the more than 30 million Americans living with a rare disease.


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