As the global CONVID-19 pandemic rages and the death toll mounts, whole classes of patients not directly discussed often face great danger. With 30 million rare disease patients in the U.S. alone, and about 400 million worldwide, great risk has rippled through the healthcare system as continuity of both care and research is put on hold or otherwise disrupted. Global Genes spoke with TrialSite News about the risks now faced by millions of rare disease patients.
TrialSite News took time to speak with Christian Rubio, VP of Strategic Advancement for the rare disease patient advocacy organization Global Genes. They were founded in 2009 by Nicole Boice, a successful Southern California business executive, after the plight of a close friend’s struggle to find a diagnosis for her ailing son; and once her friend’s son was diagnosed, they learned there was no cure or treatment. A heart-wrenching moment and a call for a higher-purpose mission.
Rare Diseases Aren’t that Rare
As it turns out, the plight of Ms. Boice’s friend isn’t that uncommon. Although her friend’s son was diagnosed with a rare disease called Joubert Syndrome—only 1 in 80,0000 to 100,000 are diagnosed with Joubert syndrome—the National Institutes of Health (NIH) reports that in the United States, a disease is classified as rare if it affects less than 200,000. Well, it turns out that about 30 million people in America have a rare disease—and over half of them are children. The World Health Organization (WHO) estimates the number to be 30 million in Europe and 400 million worldwide. If we extend the impacted to include family members, then on average 120 million in America are impacted—and two billion or so are affected worldwide.
Rare Disease: The Hard Facts
Presently, over 7,000 rare diseases exist, and approximately 80% of these are the result of faulty genes. The NIH estimates that 50% of people affected by rare diseases are children, making this class of disease not only deadly but even more heart wrenching as children struggle worldwide. The conditions for kids in socio-economically challenged communities and nations are even harsher. Global Genes suspects that up to 95% of all rare diseases have no FDA approved treatment.
Global Genes Emerges
The experience with her good friend, and the internalization of the staggering problem, prompted Ms. Boice’s mission to found and grow into what has become a leading patient-advocacy organization dedicated to raising awareness of rare and genetic diseases. A 501(c)(3) nonprofit organization, Global Genes connects, empowers, and inspires the rare disease community, ultimately seeking to eliminate the burden of rare disease for patients and families everywhere. Representing up to 400 million people worldwide, the organization’s mission is to eliminate the challenges of rare disease through public and physician education, building community through social media, and supporting research initiatives to find treatments and cures for rare diseases.
COVID-19 Pandemic Puts Children with Rare Disease at Great Risk
While the COVID-19 pandemic rages and much of the media coverage centers on the tragic loss of life coupled with horrific reports from key epicenters such as New York, another dangerous consequence unfolds. This tragic pandemic has exposed a grave vulnerability in the American health care system—or perhaps better put, the loosely coupled provider networks, driven by goodwill and the best of intentions, we call a system. What we have is a patchwork without a true national and systematic underpinning to ensure the continuity of care and the redundancies necessary for the most vulnerable patients in a time of ongoing emergency. Afterall, even before the advent of the crisis, the U.S. for example had less doctors and hospital beds per capita than most other comparable nations. The delayed and staggered roll-out of COVID-19 testing evidenced a sketchy and outdated mix of a patchwork from federal, state and local government. All of this is, combined with dependence on overstretched private firms, exposes the entire population during this crisis—and this risk is higher for patients with rare diseases.
Rare Disease Patients at Risk
Of the approximately 15 million pediatric rare disease patients, Global Genes can’t be certain how many are in peril, but the situation is not good. Many children with rare disease depend on research for their actual care—bringing newfound meaning to the phrase, “clinical research as a care option.” COVID-19 has caused much research to be delayed, putting an entire segment of patients at great risk.
The COVID-19 pandemic has put many patients with rare diseases at risk. Pediatric patients with certain disease types are especially exposed and vulnerable. Care at the clinic, and in clinical research, has been put on hold in many cases, and organizations like Global Genes are scrambling to improve policy and funding. At the same time, they are supporting more localized causes to stabilize the conditions. Thanks to organizations like Global Genes, rare disease patients have a voice—and it must get even louder moving forward.
Call to Action: Interested in supporting patients with rare diseases? Check out Global Genes. Improving and upgrading our national health system, including infrastructure and technology, should be on any decision-makers agenda.