Less Than Half of U.S. States Have a Rare Disease Advisory Council and This Needs to Change

Guadalupe Hayes-Mota has worked for Biogen, Ultragenyx, Amgen, and GSK. He was the prior UCLA Health Director. Additionally, he is a member of the Massachusetts Rare Disease Advisory Council.

He also happens to have a rare disease himself: hemophilia.

Guadalupe’s Story

This condition is genetic and leads blood to not properly clot. Born in Mexico, he was unable to access proper treatment that other parts of the globe had. As a result, he lived a very isolated life in order to protect himself from injury.

Then, at age 12, he suffered from a burst appendix, had emergency surgery, faced an 8 hour transport to another hospital, and died twice in the operating room before waking up. His parents were told it was very unlikely that he would live. Following this event, his family moved to California and worked to navigate a new country, language, and healthcare system. He was able to locate a hemophilia association chapter near his home which helped him find proper care.

Now as an adult, he still faces challenges from his rare disease. Mental health is difficult because the condition can be unpredictable, even with treatment. Additionally, having access to the treatment does not equate to it being affordable. Further, a bleeding episode can put his whole life on hold.

Guadalupe explains that in some ways he was lucky. He was born with the disease and it didn’t take too long for him to be diagnosed. This is partly because hemophilia is one of the rare diseases that is more well known. Only 7% of all rare diseases are well studied and have effective treatments. Far too many patients face cycles of misdiagnosis and improper care. A quarter of all patients don’t receive a diagnosis for over 4 years. Even worse, 50% don’t have a proper diagnosis. Three of every ten children diagnosed with a rare condition don’t live past five years old.

Guadalupe explains how Rare Disease Advisory Councils are a way to improve access to care for Americans who are living with a rare diagnosis. He thinks every single state should have one. Currently only 21 states, as he says, “give rare disease patients a seat at the table.”

The Plight of Rare Diseases in The U.S.

Although rare diseases are individually rare, collectively they impact a large percentage of the population. There are over 7,000 known rare diseases. These impact 30 million people living in the United States. That equates to 10% of the population.

Rare Disease Advisory Councils work to connect patients and their families with experts, the public, and policymakers regarding what they need.

Rare disease patients need a seat at the table. They need to have their voice heard, and they need connections to the policy-making sphere. These councils can help advocate for new therapies, encourage research, and pass other policies that can aid the rare disease community.

They also help to bring much more awareness to rare diseases, which itself can spark many reforms.

You can read more about this issue and how Rare Disease Advisory Councils can help here.

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