NIH Panel Features Experiences of Young Adults in Rare Disease Community

A panel session at the National Institutes of Health (NIH)'s Rare Disease Day conference featured a group of young adults who experience the effects of rare disease every day.

Among these panelists was Neaz Powell, a patient with sickle cell anemia who stayed at the Children’s Inn at NIH before and after his bone marrow transplant in August 2017. Founded in 1990, the Children’s Inn is a “place like home” where families of patients with a rare disease are allowed to stay together while their loved ones are participating in a clinical trial at NIH. Since its opening, the Inn has served almost 13,000 ill children and 60,000 families and has expanded in size.

Originally from Orange County, California, Shira Strongin is the founder of Sick Chicks, a nonprofit organization that empowers women with rare diseases. Strongin herself is an undiagnosed patient and experiences serious pain every day with little treatment options to manage her symptoms.

After her father’s death from adrenoleukodystrophy (ALD), Taylor Kane established the Remember the Girls campaign. While ALD only effects boys and men by crippling their nervous systems, girls can be carriers of the gene and pass it on to their children. Kane hopes to spread awareness to other women who are carriers of the gene and educate them on what they can do to be allies of the rare disease community.

Maddie Shaw, a freshman in college, suffers from primary immunodeficiency disorder (PIDD), a condition where part of the immune system is either absent or does not function properly. After experiencing feelings of isolation and loneliness in high school, she launched Maddie’s Herd, a campaign that works with organizations to support families of patients with rare diseases with medical education and resources.

During the discussion, the 4 panelists addressed their main issues growing up with rare diseases. They said physicians often doubted their feelings of pain and distress, believing that they were dramatizing their illness. Strongin especially has encountered this reaction from doctor’s due to her unknown condition. Powell mentioned his own experience with doctors who suspected him of being addicted to opioids when describing his discomfort.

The panelists all agreed upon the importance of communication between the patient and the doctor. Only the patient knows what he or she is experiencing, and the patient should be trusted by healthcare providers to receive the most accurate and timely diagnosis possible. More research efforts and opportunities are needed to improve diagnosis and treatment options in the rare disease community.