Fueling Diversity in Rare Disease Research

Equity and access have not been priorities in rare disease research - that’s changing. The Rare Disease Diversity Coalition is advocating for patients of color, said NORD’s Debbie Drell and Black Women's Health Imperative's President, Linda Goler Blount. This program was moderated by Rachel Jones, Director of Journalism Initiatives at the National Press Foundation.
Notes by Hope Kahn, National Press Foundation
The diagnostic journey is long for rare disease patients and their families - and it’s even longer for rare disease patients of color.
Patients of color with rare diseases on average have another five to seven years in their diagnostic journey, said Linda Goler Blount.
The Black Women’s Health Imperative launched The Rare Disease Diversity Coalition to bring together experts, health and diversity advocates and industry leaders to identify and advocate for solutions for historically marginalized rare disease patients.
Goler Blount, alongside Debbie Drell, the senior director of membership services of the National Organization of Rare Diseases, talked to NPF Covering Rare Diseases Fellows about the challenges marginalized people with rare diseases face and how the Rare Disease Diversity Coalition is combating them.
‘We’re focused on solving the problem.’
When Goler Blount’s daughter started having symptoms that nobody could explain, she went through different tests and doctors, and still couldn’t get any real answers, she said. Luckily, as an epidemiologist who is married to a doctor, she was able to receive top care and a diagnosis.
“When you can call the chair of the board of a hospital system, you can get some attention. You can get somebody to pay attention to your child, your situation,” she said. “The vast majority of us can’t do that, so so many patients are in literally a limbo of confusion and fear because they just don’t know what’s happening.”
That’s why the Rare Disease Diversity Coalition exists, she said. It exists to get rid of fear, bring solutions to patients and to help families learn and advocate for the patient.
Blount said they’re looking at issues from a provider perspective, the patient perspective, the caregiver perspective and the policy and clinical research perspective.
‘What is my family history?’
That question is critical for patients to be able to answer, according to Goler Blount.
“If there are symptoms that are inexplicable or trying to work through this process, knowing your family history is really critical so we’ve launched this pilot [Know Your Family History] so people can know what kinds of questions to ask, what kind of information to get so that they can have a really productive conversation with their caregivers.”
There has been a de-emphasis on diversity, equity and inclusion, Goler Blount said.
“There’s this sense that we no longer have to deal with diversity, equity, and inclusion, but absolutely we have to,” she said.
To combat this, the Rare Disease Diversity Coalition piloted a fellows program, as well as launched the Rare Disease Rare Health Equity Conference Scholars Program.
The Rare Disease Diversity Coalition recently conducted a survey across 7,000 rare diseases. The survey was available in English and Spanish, and all the data was collected anonymously, said Drell.
“It was a very extensive survey,” she said. “When were you diagnosed? How were you diagnosed? There were questions about health insurance, if you’re covered, the type of insurance, secondary insurance that you may have, costs that you estimate per month just for the insurance, what kind of care do you have from your insurance, and questions about how they use healthcare.”
The most shocking statistic from the survey, according to Drell, is that 17% of those who answered experience housing instability, food insecurity or were worried about basic needs.
“The rare disease community has not talked about this. It’s not a focus. The focus for rare disease community is let’s get research, let’s get clinical trials, let’s develop drugs, let’s get funding for research, let’s get diagnosis, but we need to collectively think about this, talk about this, do something about this.”
“These are systemic issues,” said Goler Blount.
Speakers:
Linda Goler Blount, President and CEO, Black Women's Health Imperative
Debbie Drell, Senior Director of Membership Services, NORD
Transcript, summary and resources: nationalpress.....
This program was funded by Fondation Ipsen. NPF is solely responsible for the content.
More about Rare Diseases: nationalpress.....
This video was produced within the Evelyn Y. Davis studios.

[@That_BIack_Cat]

Thank you for what you do.