Rare diseases aren’t as rare as you might think. An estimated 1 in 10 Americans has one, and more than 50% are children, many still undiagnosed.
On average, it takes five years to get an accurate rare disease diagnosis. That’s five years of unanswered questions, misdiagnoses, and missed opportunities for early interventions that could change the trajectory of a child’s health and even save their life.
This Rare Disease Day, February 28, the National Organization for Rare Disorders (NORD®) is hoping to reduce the diagnostic journey by sharing steps to take when your child or a child you care for has unresolved health issues:
1. Trust your gut
No one knows your child better than you do. If something feels off — persistent symptoms, unusual developmental delays, or a pattern doctors can’t explain — listen to that inner voice. Parents and caregivers often recognize a problem long before it’s identified medically. Don’t let doubt or dismissal keep you from speaking up and seeking answers.
2. Partner with your physician
Your child’s pediatrician should be your first stop. Bring them a detailed symptom log, and ask questions about potential underlying conditions. If your concerns aren’t being addressed or you don’t feel heard, seek a second opinion.
A specialist, such as a geneticist, neurologist, or metabolic disease expert, can offer deeper insights. See if you live near one of 40 NORD® Rare Disease Centers of Excellence to connect with experts who understand the complexities of diagnosing and treating rare diseases.
3. Be your own advocate
Advocating for your child also includes taking care of yourself. The journey can be overwhelming — it’s financially difficult, and caregiver burnout is real. NORD offers resources like patient assistance programs for nearly 80 rare diseases as well as caregiver respite services to help lighten the load.
4. Educate yourself
Knowledge can help you feel more in control. If you or your child receives a rare disease diagnosis, the NORD® Rare Disease Database offers information on over 1,400 rare conditions, treatment options, and clinical trials with nearly 500 reports available in English and Spanish. Understanding the disease will help you make informed decisions about your child’s care.
5. Build your support network
The diagnostic journey can be isolating, but you do not need to go at it alone. Connecting with other parents who have walked this path can provide comfort, guidance, and invaluable advice. There are many opportunities to link up with rare disease communities through social media and patient advocacy organizations, many of which can be found using NORD’s Patient Advocacy Organization database. If you can’t find an organization for your child’s disease, NORD® can provide you with support and resources to start your own.
6. Participate in research
Fewer than 5% of the 10,000+ rare diseases have Food and Drug Administration-approved treatments. New treatments rely on families participating in research and drug development. Many breakthroughs have been driven by families involved in clinical trials, registries, and genetic studies.
To learn how you can contribute to drug development for your child’s rare disease, NORD® offers a three-part educational course in English and Spanish called “Rare Disease Drug Development: What Patients and Advocates Need to Know” created in partnership with the U.S. Food and Drug Administration (FDA) and the Critical Path Institute (C-PATH).
7. Don’t give up
The rare disease journey can be long, filled with twists and uncertainties. Yet, progress is happening every day, and with persistence and the right support from organizations like NORD®, answers and help are possible.
If you are unsure where to start, call NORD’s RareCare helpline at 1-800-999-6673 or visit rarediseases.org/contact. Our team is here to guide you Monday through Thursday, 8:30 a.m. to 7:00 p.m. ET, and Friday, 8:30 a.m. to 6:00 p.m. ET. Learn more at rarediseases.org.
