Opinion: Ohioans can make major difference in fight against rare diseases

Eddie Pauline is president and CEO of the Ohio Life Sciences Association, the state trade association representing the life sciences.

I have spent far more time than most talking about rare diseases with researchers, care providers and patients and their families.

I am president and CEO of Ohio Life Sciences.

I am also a father.

Talking with parents of children who have rare diseases is not only heartbreaking, it is motivating.

It drives home for me the reason why the life science industry is so critical. Without research, without care providers, without access to new and innovative treatments, many of these children would not survive to adulthood.

Today (Feb. 28) is Rare Disease Day, an internationally recognized event to raise awareness about these often-misdiagnosed, historically undertreated diseases.

Statistics about rare diseases.

• A rare disease is one that affects fewer than 5 in 10,000 people.

• Some 7,000 rare disorders have been identified, affecting about 30 million Americans.

• That is approximately 1 in 10 people who will be diagnosed with a rare disease at some point in their life.

So even though these diseases are uncommon — to be classified as “rare,” a disease must be known to affect fewer than 200,000 Americans — collectively, they are a significant health issue. But because they are, individually and by their nature “rare,” these diseases often do not have the same coordinated, critical-mass advocacy efforts that help fund and drive research that leads to treatments.

That leads to a host of problems, many life-threatening.

Rare diseases are often difficult to diagnose, and even once an accurate diagnosis is made, treatment can be either cost-prohibitive or unavailable. Fewer than 500 of those 7,000 rare diseases have FDA-approved treatments.

This is where Ohioans can make a difference.

What can help?

Genetic testing and targeted gene and cell therapies are among the best diagnostic tools and treatment we have for rare diseases, and in central Ohio, a growing number of organizations are investing in developing and improving upon both.

Nationwide Children’s Hospital’s Steve and Cindy Rasmussen Institute for Genomic Medicine, Ohio State’s Cell Therapy Lab and Innovation District, alongside companies like Andelyn Biosciences, Sarepta Therapeutics and Forge Biologics, among others, are developing and manufacturing gene and cell therapies that target the precise genes responsible for rare diseases.

More:Nationwide Children's Hospital receives $10 million donation

As a state, we must collectively not only invest in these research efforts, we must push for policies and legislation that improve patients’ access to testing and treatment and make them more affordable.

One such piece of legislation, House Bill 608, the biomarker bill, was introduced last session but was not passed before the General Assembly closed.

The bill would require insurance companies to cover the costs of biomarker testing, one of the most powerful diagnostic mechanisms we have available. We are optimistic that the bill will be reintroduced and intend to advocate strongly for its passage. I hope you will join us.

More:Genomic medicine offers diagnostic hope for people with rare diseases | Pediatric Research

These policies benefit individuals and families with rare diseases, but they also often can improve and lengthen the lives of people with more common issues, including cancer. One recent study found that 78% of Ohioans have health insurance plans that is more restrictive than what the National Comprehensive Cancer Network recommends.

And the National Organization for Rare Disorders gave our state a “D” in its most recent report card in how we protect patients with state-regulated insurance.

Ohioans deserve better.

Today, especially, I hope you will take time today to learn more about the rare diseases affecting people across the planet — and about the therapies we are developing right here in Ohio that might one day save their lives.

Eddie Pauline is president and CEO of the Ohio Life Sciences Association, the state trade association representing the life sciences.

This article originally appeared on The Columbus Dispatch: What is Rare Disease Day? What is House Bill 608| opinion