Experts Speak on the Importance of Rare Disease Day


Why is Rare Disease Day so important? Hear the answers from some of the most qualified professionals in rare disease fields.

A rare disease is defined as having less than 200,000 cases per year

According to the National Organization for Rare Disorders:

  • There are over 7,000 different RD
  • 25-30 million Americans live with RD
  • That equates to almost 1 in 10 people
  • Over 90% of RD lack an FDA-approved treatment
  • Most are genetic/have a genetic component
  • There are 500+ types of rare cancers
  • All pediatric cancers are rare
  • Many RD result in premature deaths of infants & children

Tomorrow, the last day of February, is dedicated to rare disease awareness. HCPLive® is observing Rare Disease Day with the relaunch of the Rare Disease Report® podcast in addition to all-day coverage featuring interviews addressing diseases like adrenomyeloneuropathy (AMN), myelodysplastic syndromes (MDS), charcot-marie-tooth disease (CMT), and more.

The full exclusive interviews with experts from institutions including Allgheny Health Network (AHN), Foundation for Sarcoidosis Research (FSR), CMT Research Foundation, and more, will be published tomorrow.

In addition to healthcare professionals, an advocate for relapsing polychondritis, and the President and CEO of Make-A-Wish New Jersey share their unique perspectives.

The Significance of Awareness in Rare Disease

Regardless of their specialty, or the rare conditions they treat, providers who have dedicated their careers to the zebras of medicine explain that awareness is as significant of a component as treatment or research. Without awareness, it's unlikely that providers or their patients will have access to either.

Here are some reasons shared by people who are deeply embedded in the community, about why they believe in the significance of Rare Disease Day.

"Now, to me, 200,000 people sounds like a lot," Mikkael Sekeres, MD, MS, Chair, Medical Advisory Board, Aplastic Anemia MDS Foundation said, "because the diseases that I treat affect about 20,000 people per year in the United States."

"So there's quote--unquote, rare diseases," he continued, "and then there are very rare diseases that we care for in hematology."

The definition of a rare disease, in the US, is any condition that has fewer than 200,000 cases per year. Even though these diseases are grouped together and classified as "rare", the differentiations between these conditions can be just as distinctive as comparing any disease to another.

"The biggest challenge for people with rare diseases is that oftentimes they don't have therapies that are effective for them," Patrick Flume, MD, Director, Adult Cystic Fibrosis Center, Medical University of South Carolina said.

He explained that healthcare professionals can help by guiding these patients in the right direction, whether they refer them to a specialist, locate a clinical trial they weren't aware of, or connect them to an advocacy group that might have more resources for the patient than they do.

"But also, to try and help on the legislative and political aspect to try and know where we could be spending monies in the most effective way for the benefit of these individuals," Flume continued. "And to appreciate the hardships that they have because they don't have the numbers like an asthma or COPD group might have."

Many conditions are extremely debilitating, so individuals living with a rare disease rely on the healthcare and advocacy communites to make progress.

"I also always say that patients with [idiopathic pulmonary fibrosis] IPF are not going out on a rally, and finding, and drumming up support, because they can't because they can't breathe." Martin Kolb, MD, PhD, Director, Division of Respirology, McMaster University, said.

In addition to highlighting rare disease for the purpose of raising awareness, John Sergent, MD, MACP, MACR, Vice Chair of Education and Director of Medicine Residency Program, Vanderbilt University Medical Center, shared another reason to support the need to further understand these conditions.

"The other basis for doing it, is rare disease teaches a lot about common diseases," he said. "In rheumatology, there are some diseases called autoinflammatory diseases, which are mostly genetic, and are quite rare. I only have maybe 2 or 3 patients in my practice right now with one of those. So even though they're rare, they teach us a lot about how inflammation works in common diseases like lupus. So, there's a lot of value in studying various diseases."

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