21 states give rare disease patients a seat at the table. The other 29 need to follow suit

A powerful movement is taking shape in the U.S. rare disease community that could transform the lives of millions of people. That’s right — millions. Even though a single rare disease may affect only a few individuals, there are several thousand of these problematic diseases that are difficult to identify and treat.

Since 2015, 21 U.S. states have passed legislation to create Rare Disease Advisory Councils that provide platforms for patients and family members to communicate with experts, policymakers, and the broader public. It’s critical to seize this hopeful moment because the needs of so many people living with rare diseases go unaddressed.

I know because I’m one of them.

I was born and raised in a small town in Mexico and diagnosed at birth with hemophilia, a rare genetic disease that prevents the blood from clotting after trauma or injury. While treatment existed in other parts of the world, I had only limited access to it, forcing me to live an isolated childhood indoors, protected and isolated from the world.

When my appendix burst at age 12, I underwent emergency surgery, followed by a desperate eight-hour ambulance ride to a hospital in another town in search of better medication to stop the bleeding. Doctors told my parents I was unlikely to survive, but against all odds I did — after clinically dying twice in the operating room. I am one of the few lucky people with my condition to have survived severe bleeding events without treatment.

After this traumatic incident, my family moved to a small town in California’s Mojave Desert. Navigating the health care system as an immigrant and not knowing the language was complicated. Accessing treatment and services for my disease was almost impossible at first. The nearest specialist was 90 minutes away. Thankfully, with help from the hemophilia association chapter in our area, I gained access to care and treatment.

I’m much better off now than I was in childhood, but hemophilia still controls my life and work as an adult. When I experience a cut or feel possible signals of internal bleeding, I need to stop everything and attend to it. If I don’t immediately address the problem by infusing myself with medicine and going to the hospital, the bleeding can spiral out of control and become life-threatening.

I also face other challenges as an adult with hemophilia. The constant stress of knowing that a new crisis can surge at any time makes maintaining my mental health a permanent struggle. And access to treatment doesn’t mean it’s affordable. The cost of medication alone runs in the hundreds of thousands of dollars each year, and then there are the costs of hospital stays, tests, and health services.

My story is far from unique. The term “rare disease” leads many to believe the community of people with them is small. That’s true for each disease. A rare disease is classified as one that affects fewer than 200,000 people. But the sum of them looks very different: 7,000 rare diseases affect more than 30 million Americans. In other words, 10% of the U.S. population has a rare disease.

Most people living with rare diseases in the U.S. struggle as I do. In some respects, I’ve been lucky. I was diagnosed with hemophilia relatively quickly when I was born because the disorder’s characteristics are well-known. Many people with rare diseases suffer through long, roller-coaster journeys of misdiagnoses before their disease is identified. For one-quarter of people with rare diseases, it takes more than four years to get a proper diagnosis; 50% live with no accurate diagnosis.

I was also comparatively lucky to be born with a disease that has known and effective treatments. That’s true for just 7% of rare diseases. The other 93% do not have any form of treatment, and for that reason, 3 of 10 children with one of these diseases don’t live to see their fifth birthdays. The development of new treatments is in motion, but it isn’t going fast enough. The current research is just a drop in a bucket, and present funding levels are insufficient to change this.

Significant and immediate action is needed to change this dire situation. Individual states appear to be more likely to take action than the federal government. The North Carolina legislature created the first Rare Disease Advisory Council in 2015, and 20 other states have since followed suit. Early this year, the Massachusetts legislature launched such a council and the governor appointed me to it.

We’re thrilled to share @MassGovernor has signed legislation to create a Rare Disease Advisory Council (#RDAC) into law! The RDAC will allow #raredisease advocates to educate lawmakers about the needs of MA residents with rare diseases. #RareAction pic.twitter.com/xpg6DA8oIG

— NORD (@RareDiseases) January 4, 2021

I believe that these advisory councils can provide a positive impact. Because they give rare disease patients a much-needed voice, they will make it easier for them to explain their concerns as they sit at the table with state officials. People living with these diseases can use the councils to advocate for the therapies they urgently need and help set the agenda for developing new ones. Many states have failed to address rare disease issues due to a basic lack of awareness of patients’ challenges. Rare Disease Advisory Councils can change that.

State governments have several powerful policy levers at their disposal. Their ability to create health policies, regulate insurance implementation, and oversee public health gives them the power to transform the lives of rare disease patients. By using these various means strategically and in concert, state governments can advance a more holistic approach toward improving the health and well-being of the rare disease community.

Rare Disease Advisory Councils hold significant promise for solving the problems faced by the millions of Americans. It’s time for the other 29 states to create their own.

Guadalupe Hayes-Mota is a biotech executive who has worked at Ultragenyx, GSK, Biogen, and Amgen; a former director of UCLA Health; and a member of the Massachusetts Rare Disease Advisory Council.