One in 10. That’s how many people live with a rare disease.
And while they may live with a condition that is classified as rare, the challenges these patients face reaching a diagnosis, finding a specialist and accessing treatment are quite common.
Shared Experiences Among Rare Disease Patients
Upwards of 30 million Americans live with one or more of 7,000 identified rare conditions. While some rare diseases are familiar, like cystic fibrosis, sickle cell anemia, hemophilia and muscular dystrophy, there are hundreds of others that are completely unfamiliar to most people.
But Rare Disease Day – February 28 – offers an opportunity to highlight the experiences and challenges that are shared by rare disease patients. Chief among these challenges is getting rare disease patients the care they need amid limited treatment options.
Incentives Could Spur Investment
Fewer than 10% of rare diseases currently have an FDA-approved treatment.
Continued investment in innovation can help this number grow. Of note, the FDA recently approved the first treatment for a rare lipid storage condition called AADC deficiency as well as one for Niemann-Pick Disease, Type C.
Ensuring there are incentives and policies in place that support rare disease research and innovation can help spur further development across the spectrum of rare diseases, providing patients with the treatments or cures they need.
Access Shouldn’t Be an Obstacle
When a treatment exists, rare disease patients may still struggle to access it. Insurance hurdles like prior authorization can result in access delays or outright denial of a medication, while high insurance cost-sharing for innovative treatments – and programs like copay accumulators – can make the medication unaffordable.
Policy changes that empower patients, reduce administrative burdens and improve insurance coverage have the potential to make a difference for the rare disease community. Let this Rare Disease Day be the impetus for action. It is through the raising of collective voices that change will occur and the lives of people with rare diseases will be better.
