Why support rare now?


Nearly 30 million Americans are living with a rare disease and  COVID-19 continues to present a myriad of challenges that is not only impacting the patients but their families and caregivers as well.

At the top of the list is reduced access to vital medical care which, in turn, has exacerbated already existing challenges. Among those already existing challenges include an accurate diagnosis of a complex disease, limited treatment protocol options, financial struggles, absence of hope and mental fatigue for patients, families and caregivers. 

“I don’t think you need to have a rare disease to have had all of this impact you mentally,” said Dr. Justin Hopkin, the father of a son with a rare disease and a rare disease advocate. “Managing the mental aspect of all this has been difficult for everybody. Finances, jobs, social issues … all those things have weighed heavily on most of us, but we know it’s been especially hard on those living with a rare disease.”

The isolation some Americans are feeling as we navigate the obstacle course of this pandemic is how some rare disease patients feel everyday. 

Since March, medical research on diseases other than COVID-19 has taken a huge hit. There have been countless research studies abandoned, suspended or postponed. 

Much is still unanswered about the ultimate impact the pandemic will have on clinical trials, too. That’s because it is unclear how many of these studies will eventually restart and how long it will be before they begin again.

Clinical trials play a critical role physically and mentally for rare disease patients. They show researchers and doctors what does and doesn’t work, and are a critical vehicle for rare disease patients to receive or obtain life altering therapy.

A clinical trial being delayed, interrupted or canceled can be a tipping point for a rare disease patient . They don’t have the luxury in most cases of multiple clinical trials. And the delay, interruption or cancelation of that trial jeopardizes any hope they might have had and could even be life threatening.

All this is going to lead to a healthcare system already pushed to its extreme limits by this pandemic becoming backed up and slowed even more. And it will directly and adversely impact a Rare Disease Community that faces an uphill climb under optimal conditions.

“Like everyone else, what we are hearing from the patients in our community has been tough,” said Kathi Luis, a rare disease advocate. “There was a lot of hopelessness, without their rehab, medication, treatments, clinical trials delayed or canceled … they didn’t have any hope. They are really defeated.”

In April, the National Organization For Rare Diseases (NORD) reached out to patients to gauge the best way to guide support and help for the Rare Disease Community.

Nearly 800 people responded to the survey from NORD’s research team and the results were made public last month.

95 percent of the respondents said they have been impacted at a cost to both their immediate and long-term health and well-being. Nearly three-quarters have had a medical appointment canceled and, of those, 65 percent were offered an alternative appointment via phone or video. 69 percent of the respondents have concerns about medication and medical supply shortages.

“Treating rare and medically complex cases like mine takes multimodal approaches. Remove one piece of the puzzle and the care patients receive results in sub-optimal outcomes. COVID-19 further exposed a glaring problem in the healthcare system by asking us what defines essential medical treatments,” said Marni Cartelli, a rare disease patient. “What if a treatment on its face doesn’t keep someone alive but is supplemental to one that does? Also, we must ask ourselves, is keeping someone alive the only essential medical service? What about keeping someone’s ability to feed themselves? These are all questions I ask myself every single day but society only had to ask itself in this pandemic.”

The time for action to support the Rare Disease Community is now. As we all adjust to what is the most recent new normal, the mental fatigue associated with the unknown for rare disease patients continues.

Uplifting Athletes is uniquely positioned to inspire hope in the Rare Disease Community. The 7,000 Mile Challenge is a way for YOU to get active and rally support for the rare diseases this summer.

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