September 22, 2019 | 69° F

Experts discuss effects of rare diseases at panel


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Photo by Tianfang Yu |

Murad Husain, vice president of regulatory affairs at PTC

Therapeutics, Inc. speaks at Busch campus in anticipation of “Rare Disease Day” this Friday.


For the top 350 rare diseases, 27 percent of sufferers will die before their first birthdays unless they are diagnosed. For Julie Raskin, this statistic is personally significant.

Raskin, executive director of Congenital Hyperinsulinism International, was one member of a rare disease panel the Robert Wood Johnson Medical School hosted last night on Busch campus in anticipation of “Rare Disease Day” this Friday.

After her son’s birth, Raskin began to worry immediately because he had an unusually voracious appetite. She brought her concerns up to the hospital staff, but they did not seem worried.

Twenty-four hours later, she rushed him to the hospital.

“His blood sugar didn’t even register when he arrived,” she said. “[The physicians] didn’t know why.”

Ten days afterward, doctors diagnosed Raskin’s son with congenital hyperinsulinism, a rare disease that causes hypoglycemia in infants and children.

Raskin’s family was transferred to a center that specialized in the disease where she and her husband met other families who had gone through similar experiences.

While the experience was comforting, she said the challenge of managing the condition became a full-time affair — the late diagnosis of her son’s disease led to disabilities like poor vision and severe fine motor difficulties.

“Our life was similar to an [intensive care unit],” she said. “There are no breaks managing this disease.”

The network of people that Raskin and her husband met in dealing with their son’s disease formed into a large group of advocates who raised awareness of the disease.

Raskin said her son received help from a coalition of parents, schools, other students and the state. Now, he is graduating from high school and has been accepted into college.

She noted that issues facing rare disease patients and their families include handling enormous financial commitments and having trouble finding resources, like specialists or access to proper schools.

“There’s a huge loss of income for families when a parent has to stay at home and take care of a child,” she said. “I had to quit my job so that [my son] Ben could go to school.”

Raskin believes the establishment of the Affordable Care Act was a great success for the rare disease community.

“[The ACA] eliminates the discrimination based on pre-existing conditions,” she said. “This is just a tremendously positive change. We hope we can build on it and strengthen that law.”

Murad Husain, vice president of regulatory affairs at PTC Therapeutics, Inc., said about 7,000 rare diseases affect individuals in the United States and European Union.

“The reality is 95 percent of patients suffering from rare diseases still don’t have effective treatment,” he said.

Husain emphasized the importance of an early diagnosis for these diseases. He asserted that clinical trials could be more efficient and feasible by instituting novel designs in studies that are now seldom used.

“There is no difference in regulatory requirements in demonstrating safety and efficacy in drugs for both rare and common diseases,” he said.

Yet the Food and Drug Administration allows “fast-track” and “breakthrough” therapies for drugs that potentially treat life-threatening diseases.

Husain said the pharmaceutical industry and regulators could begin to work together more closely to make an impact on rare diseases.

After screening a short video about a rare disease known as hantavirus pulmonary syndrome, Jayne Gershkowitz, vice president of patient and professional advocacy at Amicus Therapeutics, said victims of rare diseases must not be dehumanized.

“It’s important to keep in mind when you look at rare diseases, any diseases, it’s the person who has the disease, not the disease who has the person,” she said.

Gershkowitz’s company has been involved in drug development for rare diseases, as well as improving existing therapies.

“Patients understand this stuff,” she said. “They understand their disease. … They know it, they understand it, and they’re going to ask questions.”

She stressed transparency and honesty when dealing with patient expectations of new treatments and upcoming drugs.

“It’s our commitment to improve the lives of these people who live with these diseases every day,” she said. “They are just as important [as investors and physicians] in drug development.”


By Adam Uzialko

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