Rare Disease Community in Good Hands: The Next Generation of Research

In a panel at Rare Disease Day at the NIH, a panel discussed how younger rare disease patients can support research through social media and modern technology.

When Shira Strongin was young(er), her mother reprimanded her for watching Disney’s The Little Mermaid at a friend’s house.

It was “problematic,” Shira’s mother said, that a woman gave up her voice to meet a man, and then waited for the man to save her.

In a panel at Rare Disease Day at the National Institutes of Health (NIH), undiagnosed rare disease patient Shira Strongin, Founder of Sick Chicks and member of the Youth Adult Advisory Council of The Children’s Inn at NIH, participated on a panel discussing the importance of the perspective of young adults in the rare disease community.

Jennie Lucca, M.S.W., CEO of The Children’s Inn at NIH introduced the panel, titled “Engaging the Next Generation of the Rare Diseases Community.” It was led with Lucca introducing herself and discussing how younger rare disease patients can support research, provide access to care, or advocate for change using the power of social media, digital communications and modern technology.

Moderated by Eric Sid, M.D., M.H.A., Presidential Management Fellow, ORDR, NCATS, NIH, the panel featured Strongin, alongside Tej Neaz Powell (sickle cell anemia), Patient Representative of The Children’s Inn at NIH; Taylor Kane (adrenoleukodystrophy), Founder of Young ALD Carriers and Remember the Girls; and Maddie Shaw (common variable immune deficiency), Founder of Maddie’s Herd.

Each shared their individual experiences and spoke of the successes they’ve had in raising awareness.

The discussion began with Dr Sid asking each of the panelists what their previous experiences with research had been, and how it shaped their visions of the future for the rare disease community. He inquired about the road to diagnosis — often referred to as a “diagnostic odyssey” – and what challenges each of the patients had faced.

“As a teenager, it’s really hard when doctors don’t direct questions toward me, and they direct them toward my parents instead,” Strongin said passionately. “Now that I’m 18, some doctors have started to direct questions toward me because they need my signature. It’s my body. Why would a doctor think my mom would know what I’m feeling better than I do? Of course, I tell her how I’m feeling, but she can’t describe the pain I’m in. I can describe the pain I’m in.”

“I think that needs to be talked about more in the medical community as a whole: young adults need to be listened to. We’re the experts of our own bodies.”

As it pertains to the benefits that come from speaking up, Powell says, it’s important to make sure doctors know exactly what you’re experiencing.

“People may know about my disease,” he says, “but they may not know about all the pain it can cause as it progresses. At first, [a bone marrow transplant] sounded like this magical cure and I was skeptical. In August 2017, I had my transplant, though, with help from the NIH. I’m so grateful for that.”

One of the most trying hardships in growing up as a rare disease patient, Shaw explained, is the extra responsibility. In addition to dealing with the symptoms of your condition, a young patient can also feel the nervousness commonly caused by school work and the typical pressures of dating.

“I was being diagnosed when I was in middle school and high school, and nobody had any idea what I was talking about. It can be really alienating when people think that they can’t talk to me or touch me. It’s this added anxiety for teenagers to go along with midterms or finals and relationship drama.”

“If you’re open with your community [rare and otherwise],” she said, “it can be really eye-opening. There’s a lot of misunderstanding and ignorance, but there can also be a lot of learning opportunity for other people.”

One final message came from Strongin before the end of the panel, and it’s something she learned long ago: “Unlike in The Little Mermaid, it’s my job to speak up and use my voice. It’s not up to a doctor or legislator. I will save myself.”