There’s an enormous physical, emotional and financial cost associated with rare diseases, so those hoping to create a special council focused on them could change millions of lives.

Among those gathering at the state Capitol Tuesday to discuss the need for a Rare Disease Advisory Council was Vito Grasso. He is the CEO of the New York state chapter of the American Academy of Family Physicians, and most importantly, father to Becca, a 33-year-old diagnosed with neurofibromatosis type 2.

"I know literally thousands of doctors and over the years, none of her physicians and none of the doctors that I spoke to on a regular basis were aware of the condition, or knew enough about it to be helpful," said Grasso.

What You Need To Know

  • Patients and providers are advocating for a Rare Disease Advisory Council

  • The council would focus on funding research, improving awareness and addressing barriers to care

  • 1.8 million New Yorkers are living with a rare disease

The council would specifically focus on funding research, improving awareness and addressing barriers to care.

Frank Rivera was originally diagnosed with lung cancer and endured years of chemotherapy, only to learn he was misdiagnosed.

"That took a lot of toll on me physically and mentally," said Rivera.

If diagnosed sooner, Rivera would likely be in remission from sarcoidosis, a non-cancerous condition.

Instead, he knows he will likely live with it forever. In addition to the physical and mental toll, there's also a financial one. Some patients say they spent thousands traveling to bigger cities to see doctors with any knowledge about their rare disease.

"I'm on 12 different types of medicines each month," said Rivera. "I'm spending probably about almost $1,200 a month and I'm on disability. So, that's basically my whole disability."

As of October 2024, 29 states have established Rare Disease Advisory Councils (RDACs).

About 1.8 million New Yorkers are living with a rare disease, according to the state Department of Health.

Donna Appell's daughter Ashley began showing signs of a health issue when she was just 3 years old. It took years for a diagnosis.

"We live in the best state," said Appell. "So the best states got to have it all. So, I think an RDAC would really help us all represent all the groups. We all need to work together, and we can share the knowledge that we get from each group so that we can kind of raise all boats with the tide."

The legislation is currently being discussed in various committees.