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Rare Diseases
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Symptoms

Rare Diseases

A rare disease is defined as a condition affecting fewer than 200,000 people in the United States, with nearly 7,000 such diseases currently identified.

Overview

A rare disease is one that affects fewer than 200,000 people in the United States. There are nearly 7,000 rare diseases, and more than 25 million Americans have one.

Characteristics of Rare Diseases

  • May involve chronic illness, disability, and often premature death
  • Often have no treatment or not very effective treatment
  • Are frequently not diagnosed correctly
  • Are often very complex
  • Are often caused by changes in genes

Finding Care

It can be hard to find a specialist who knows how to treat your rare disease. Disease advocacy groups, rare disease organizations, and genetics clinics may help you to find one.

Frequently Asked Questions

Start by contacting national or disease‑specific advocacy groups; they often maintain clinician directories. Ask your geneticist or a tertiary‑care center’s genetics clinic for referrals. Use the NIH Rare Diseases Clinical Research Network (RDCRN) website to find participating centers, and consider tele‑medicine options if travel is difficult.
Register on ClinicalTrials.gov and filter by your exact diagnosis, age, and location. The Rare Diseases Clinical Research Network also lists active studies. Your specialist can help determine eligibility, and many advocacy groups have trial‑matching services that will notify you when a new study opens.
Request a detailed letter from your ordering physician explaining how the test will change management, then submit an appeal with that letter, the test’s CPT code, and any supporting literature. If the appeal is denied, ask the lab for a pre‑authorization form or consider using a patient assistance program that may cover out‑of‑pocket costs.
Yes. Many disease foundations offer grant programs for travel, equipment, or co‑pays, and they often host support groups (online or in‑person). Look for “patient assistance” or “family support” sections on the organization’s website, and check with local hospitals for social‑work services that can connect you to community resources.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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