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Someone suffering from a rare disease can walk into a pharmacy to get a prescription filled, and may very well end up being charged thousands of dollars. 

Heidi Ross, Vice President of Policy and Regulatory Affairs at the National Organization of Rare Disorders (NORD), said that’s because rare disease patients fall into a specialty tier for health insurance that doesn’t include a co-pay. 

“Rather it’s like a 40 percent co-insurance,” Ross explained. “So these rare disease patients often have expensive drugs and they have no idea what the cost is going to be because they owe 40 percent of whatever that price is.” 

That sort of issue is something that the state’s permanent Rare Disease Advisory Council, which the legislature established at the end of the 2022 legislative session, will take a look at. 

The council will have to meet and then make a report to the governor and legislators regarding any research findings or recommendations for legislative changes. 

The struggles a rare disease patient experiences include stiff economic challenges, which can then impact medical treatment. 

What ends up happening with these pricey drugs, Ross said, is patients don’t always follow their drug regimens recommended by their physicians. 

“We know from our community about 90 percent of rare diseases don’t have an FDA-approved therapy anyway,” Ross said. “So for the lucky ten percent of those diseases, for them to have an FDA-approved therapy that is safe and effective, and then they go to the pharmacy counter and they can’t actually access it – it’s devastating.” 

Lesley Bennett, a state ambassador for Connecticut’s Rare Action Network, lost her daughter Kelly to a metabolic disorder.  

Patients are put in the position of choosing to pay the rent, put food on the table for their families, or get the medication, Bennett said. 

“Those are the problems these people face,” Bennett said. 

While not all spots to the 13-member council have been firmed up, Joanna Gell, a pediatric oncologist and physician scientist conducting research for The Jackson Laboratory, is filling one of them. 

Groups including patients, caregivers, hospitals, patient advocates, the biopharmaceutical industry will all be represented on the council.

Gell’s specific work involves research into germ cell tumors, which are embryonic cells that develop into reproductive organs, Gell said. 

“When we think about rare diseases, a lot of people don’t think about cancer as rare, and I think that’s only true in the adult realm,” Gell said. “In actuality, there are greater than 100 subtypes of pediatric cancers and so as a whole it’s still a very uncommon diagnosis when you’re talking about pediatric cancers.” 

Gell explained that there are many genetic disorders that are diagnosed in childhood that are rare diseases. 

“Even with pediatric oncology, a lot of our patients that have rare diseases that affect their bone marrow or brain development or things like that put them at risk for having a cancer,” Gell said. 

Gell said she has enjoyed being involved in research as she has seen the advent of discoveries such as Car T therapy – using a person’s immune system to harness itself and attack the cancer. Gell also noted liquid biopsies, through which doctors can examine blood samples and spinal fluid to find new ways of diagnosing and monitoring therapy.

In addition to detecting recurrence earlier than before, these procedures may help prevent doing invasive surgeries. 

Gell said she also hopes the public will engage the council through public hearings as, while these patients have very real health challenges, their conditions don’t always get the attention they need. 

“Despite everyone having a place in their hearts for it, it’s like pulling teeth sometimes getting actual things done,” Gell said. “It’s not a big money maker so it is really hard to get people on board.” 

While 25 million people in the United States have a rare disease, 300 million people worldwide are living with one, according to NORD. 

Ross said 24 states now have rare disease councils with efforts underway to establish councils in California, Oregon, Washington, Texas, Mississippi, Arkansas and Indiana. 

Since the pandemic, the focus seems to have been around emergency preparedness, Ross said, as many rare disease patients have immune deficiencies. COVID-19 forced officials to look at issues surrounding shortages of PPE and ventilators. 

Both Ross and Gell praised the efforts of Bennett. 

“She is an incredible Connecticut expert. She is as passionate as they come,” Ross said, adding many people have helped this effort along the way. 

Bennett said the work she does is in her daughter’s memory. 

“The rare disease community – this is my family,” she said. “This is in memory of my daughter and everyone like her.”