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Raising the Profile of Rare Diseases

The rare disease community is finally getting a voice in state policy discussions thanks to a rapidly expanding movement.

Creating Rare Disease Advisory Councils

State legislatures create Rare Disease Advisory Councils to provide a unique opportunity for stakeholder engagement about issues that are important to the rare disease community. In addition to elevating the policy conversation around rare diseases, some councils also conduct surveys and publish resources that are used to advance policy priorities.

The National Organization for Rare Disorders helped to create the first Rare Disease Advisory Council in North Carolina in 2015. Since then, 21 councils have been established. With the help of patients and advocacy organizations, NORD is working to establish one in every state.

The word “rare” implies that these councils benefit only a few people. However, about 10% of Americans have a rare condition. This means 20-30 million patients’ interests are not being adequately represented in the policymaking process.

Councils’ objectives vary from state to state, but most are used to:

  • Provide the rare disease community’s perspective in the policymaking process,
  • Raise awareness about the 7,000 known rare diseases, and
  • Identify barriers to appropriate care and propose solutions to improve access.

Patients, caregivers and clinicians are commonly included and are valuable council members in that they provide a firsthand perspective about the challenges of living with a rare disease. Most councils have rare disease experts, researchers and patient advocates. Some also include health plan representatives and policymakers.

About Rare Diseases

In the United States, a rare condition is defined one that doesn’t affect more than 200,000 people. Some of the most well-known are Huntington’s disease, spina bifida, fragile X syndrome, Crohn’s disease, cystic fibrosis and Duchenne muscular dystrophy. Many other rare diseases, including post-transplant lymphoproliferative disease, IgG4-related disease and amyloidosis, are not as well known, which can be increased by the work of Rare Disease Advisory Councils.

Most rare diseases are chronic and debilitating. Some are deadly. More than 80% are caused by genetic variations that can strike at any age.

Many patients who have a rare condition spend years looking for clues and trying to get an accurate diagnosis. And even when they do, more than 90% of rare diseases have no FDA-approved treatment.

Patient advocates are optimistic that new energy brought on by the expanding network of Rare Disease Advisory Councils will lead to the discovery of breakthrough treatments and renewed support for the rare disease community. And creating a seat at the table for rare disease patients promotes the inclusion of their interests when health care policies are being considered.