Show your stripes: Living with a rare disease

Child in a zebra suit with a teddy bear
PHOTO: ADOBE STOCK

It’s Rare Disease Day, time to wear your stripes to raise awareness about rare diseases and the effect they have on patients’ lives. Just as the zebra’s stripes are unique in the animal kingdom, those with a rare disease are also unique, though not alone.

The National Organization for Rare Disorders (NORD) estimates that 25-30 million Americans have a rare disease — that’s about one in ten of all Americans — and more than 50 percent are children. Having a rare disease can make it harder to get a diagnosis and can make it difficult to find information about the condition.

Here at Boston Children’s Hospital, we care for children with even the rarest diseases and are continually researching and innovating new treatments to help improve the lives of those with rare diseases and their families. Dr. Phillip Pearl, director of the Epilepsy Center at Boston Children’s, answers some common questions patients and parents have about living with a rare disease.

What makes a disease “rare”?

In the United States, a rare disease is defined as one that affects fewer than 200,000 people. Currently, there are more than 7,000 recognized rare diseases, and thanks to breakthroughs in genetic testing, more are being discovered all the time.

What can I do if there’s not yet a treatment for my child’s rare disease?

If your child’s rare disease does not yet have a treatment option, you can get involved in natural history research to help move drug development forward. When seeking information about a rare disease, the old adage of “talk to your doctor” is still the best route — medical information you can find through Google can be biased.

How can I connect with others dealing with the same rare disease?

You can use the internet and social media to connect with other patients and families who are living with your child’s rare disease diagnosis. There are many wonderful stories of support groups coming together remotely over the internet. 

How can I find out if researchers are studying my child’s disease?  

Visit nih.gov or clinicaltrials.gov and search for clinical trials studying the disease. Trials will list a principal investigator (researcher) who is leading the efforts.

What would you say is most important for the patient’s family to know?

You may feel alone, but you’re not. The journey of living with a rare disease is one you share with millions of others around the world.

How can I find a medical specialist for my child’s rare disorder?

Try searching for your child’s disorder on GeneReviews to identify clinicians who are forerunners in that disease.

About our expert: Dr. Phillip Pearl is director of the Epilepsy Center at Boston Children’s and the William G. Lennox Chair and professor of neurology at Harvard Medical School. His research is focused on inherited metabolic epilepsies with a specific focus on disorders of GABA metabolism and is the author of “Inherited Metabolic Epilepsies,” a textbook for clinicians caring for children with epilepsy.