What can I do if there is no approved treatment for my child’s rare disease?

Just one tough question of many asked — and answered — during a social media Q+A held in observation of this year’s Rare Disease Day on February 28. Rare disease specialists, patients and advocates from across the country took to Twitter to offer their firsthand advice for dealing with a newly-diagnosed (or undiagnosable) rare disease. 

If your or your child’s rare disease does not yet have a treatment option, you can get involved in natural history research…

Over Twitter, our story headline and other questions were posed by the National Organization for Rare Disorders (NORD) and The Mighty, a digital health community that empowers and connects people who are facing disease or disability. Dr. Phillip Pearl, who directs Epilepsy and Clinical Neurophysiology and studies inherited metabolic epilepsies at Boston Children’s Hospital, offered his recommendations through a series of tweets from the @BostonChildrens Twitter account.

Other organizations that were invited to participate in the “tweetchat” included representatives from the National Institutes of Health, the Undiagnosed Disease Network, the American Academy of Pediatrics and the Centers for Disease Control.

Rare disease at a glance:

  • In the US, a rare disease is defined as one that affects less than 200,000 people
  • Currently, there are more than 7,000 recognized rare diseases
  • Due to breakthroughs in genetic testing, new rare diseases are being discovered all the time
  • The National Institutes of Health estimates that 25-30 million Americans are affected by a rare disease
  • If your or 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, Dr. Pearl says that the old adage of “talk to your doctor” is still the best route — medical information that you can find through Google can be biased

Do you have questions about a rare disease diagnosis? Hear what the experts say by browsing the entire tweetchat using the hashtag #RDD18Chat.