There are over 7,000 rare diseases identified in the United States affecting 30,000,000 patients. Currently, a patient with a rare disease will remain undiagnosed an average of 7.6 years and will have to see 7 to 8 different specialists. For these patients, the journey to a diagnosis is long and arduous both financially and emotionally. For the physicians who are caring for these patients, the lack of resources and information on rare diseases, combined with the inability to network and collaborate with other physicians are some of the main barriers to a timely diagnosis and potential treatment. Physicians need a tool that will allow them to collaborate with other physicians in real time toward finding diagnoses and improving the care and outcomes of their patients.
Batten disease is one of those rare diseases. Children affected by juvenile Batten disease start out as healthy kids. Around the age of 5-6, they start to lose their vision. Over time they begin to exhibit personality changes, behavioral problems and slow learning. Seizures can begin any time during the course of disease and tend to worsen with age. Progressive loss of motor functions (movement and speech) start with clumsiness, stumbling and Parkinson-like symptoms; eventually, those affected become wheelchair-bound, develop psychiatric symptoms, are bedridden, and die prematurely by their late teens or early 20s. Our organization has invested over $14.6 million dollars in research over the last 6 years and we need help to ever reach a treatment or cure.
As advocates for the rare disease community, we have been working for over a year to get the OPEN ACT included as part of the larger 21st Century Cures initiative. Now, at the 11th hour, Congress has pulled the OPEN ACT from the most recent draft of the 21st Century Cures legislation.
Please include the OPEN ACT, HR 971 (Orphan Product Extensions Now, Accelerating Cures & Treatments) in the 21st Century Cures Legislation.