Spread Awareness of Rare Disease

October 10, 2017 08:57 AM

(ABC 6 News)--Experts from all over the world are in Rochester for the 2017 Individualized Medicine Conference, but one topic, in particular, brought two women to Rochester: rare and undiagnosed diseases.

"In my mind, I knew something was wrong, I just didn't know what it was," said Katie Buryk.


Katie’s intuition was correct and decided it was time to see a doctor. Her twin sister, Allie saw one, too.

"I said, you know I talk very fast, I have a shake, a tremor, I don't know what it is. Let me know what's going on," said Katie.

"Most of the patients would have significant neurologic involvement. It can start in an early age, but also can affect people in a later age of life," Dusica Babovic-Vuksanovic, M.D., Chair of Mayo's Department of Clinical Genomics.

"I use my upper body to get up instead of my lower body because I can't squat," said Allie Buryk.

After several tests, including a genetic test, Katie finally got a diagnosis eight years after her initial trip to the doctor.

"I got a diagnosis saying you have late-onset Tay-Sachs disease," said Katie.

Allie received the same diagnosis.

Tay-Sachs is a genetic disorder caused by a missing enzyme known as beta-hexosaminidase (HexA), according to the National Tay-Sachs and Allied Diseases Association.

"They can have visual problems, seizures and so on, so the outcome is not good," said Dr. Babovic-Vuksanovic.

According to the association, Katie and Allie are among the fewer than 100 cases reported worldwide, which is why they're spreading awareness of their disease and raising money for research.

"Honestly I feel like I’m a geneticist's dream because of the rarity of it. It's just ridiculous; twins, same thing and we both have this crazy disease," said Katie.

"We don't have any treatment for Tay-Sachs unfortunately," said Dr. Babovic-Vuksanovic.

But that's not holding the Buryk sisters back from living their lives.

"I've adapted to it, so I don't really think about it as much," said Allie.

"It's challenging yes, but you just try to stay positive," Katie said.

According to Mayo Clinic, as many as 30 million Americans suffer from some form of a rare disease.

Click here if you would like to donate to Katie and Allie's research fund.


Marissa Collins

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