Commentary: What those with rare diseases want us to consider

Anxiety over a disease with as yet no vaccine or cure was already daily life for 30 million Americans.

By Carolina Sommer / For The Herald

Just three short months ago, nobody knew a virus now known as SARS-CoV-2 would spread to almost every country at an alarming rate; emptying public spaces, breaking down health-care systems, crashing economies, and forcing us to “hunker” down at home. I’m scared as I hear infection rates spiking and more people dying.

As a perpetual optimist, however, I can’t help but think through a “silver linings” lens during this pandemic; perhaps this crisis can be used as a wake-up call for “normal,” healthy Washingtonians to truly understand what it’s like to have a disease without a cure or treatment readily available.

Today, individuals living with a rare condition face the kind of uncertainty that many across the globe are facing today. Namely, how soon can we access the next cure, vaccine, or best possible treatment?

As the chief executive officer of the Bothell-based organization, Born a Hero, I know this sentiment well. Most — if not all my time — is spent ensuring my board and staff are doing everything we can to accelerate innovation through research and support groups to improve the quality of life for patients with Fibroblast Growth Factor Receptor (FGFR) Syndromes.

This includes my daughter.

For those of you that don’t know, FGFR Syndromes are comprised of 15 separate rare disorders, including Pfeiffer Syndrome; which impairs the way bones fuse or grow. If issues related to Pfeiffer Syndrome are not treated early, they can result in serious impairments. Or even death.

Pfeiffer Syndrome is just one of the approximately 7,000 diseases classified as “rare,” which is defined as any disease, disorder, illness or condition affecting fewer than 200,000 people in the United States. According to the National Organization for Rare Disorders, more than 90 percent of rare diseases are without an FDA-approved treatment.

As I sit at home “sheltering in place” with my family, I find myself thinking of all those impacted by COVID-19, constantly sending healthy thoughts and warm prayers to each and every individual and family dealing with this devastating health crisis.

But, if there’s anything I hope the healthiest of populations can take away from this pandemic, it’s a newfound realization of what it’s like to live with so much uncertainty as it pertains to one’s health.

While this is a new reality for most, it’s not for those affected by Pfeiffer Syndrome, nor with the 1 in every 10 Americans living with a rare or common disease.

Now, more than ever, is a time when the medical community — including health insurers, the pharmaceutical industry, and government regulators — must act fast to help those in need.

Thankfully we’re seeing signs of this happening.

For example, I was glad to see the federal government recently agreed to lift restrictions on telemedicine services for seniors under Medicare, enabling patients to access hospital-level medical care outside of hospitals in schools, hotels and homes.

Health advocates are also playing their part, urging Congress to cap the cost of prescription drugs under Part D. In recent years, very high prices of specialty drugs have burdened enrollees, mainly because Part D does not cap the total amounts that enrollees must pay out of pocket each year.

Additionally, industries are taking unprecedented steps by collaborating with competitors and the federal government to quickly develop antiviral therapies to help infected patients fight COVID-19, as well as new vaccines to prevent infection and curtail the spread of the virus.

These actions are impressive, promising and a true testament to how quickly we can act when the pressure is on.

But it makes me wonder: Global pandemic or not, couldn’t we all do more to ensure that the nearly 30 million Americans living with a rare disease have access to the best possible treatment, cure, or way of life, too?

Carolina Sommer is the chief executive officer of the Bothell-based organization Born a Hero.

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