And speaking of the Forward … what I was up to

1 Sep

I don’t really like stuffing my articles in your faces, but I think this time, it’s worthwhile—I’d like as many people as possible to know about the subject. The pieces I worked on for the Forward were about Tay-Sachs disease.

Tay-Sachs is a rare fatal genetic disease that develops from an enzyme deficiency. But it’s less rare in Ashkenazi Jews (1/27 are carriers), Irish-Americans (1/50), and Cajuns (carrier status means carriers of the recessive gene. One in four children of two carriers will have Tay-Sachs). It’s notorious for taking infants away from new parents. Since it’s so rare, it’s often misdiagnosed–especially Late Onset Tay Sachs, the least common form of this disease. Late Onset Tay-Sachs (LOTS) is usually not fatal, but also results in neurological degeneration.

I started researching Tay-Sachs when my editor assigned me to the disease for the special genetics issue. But as I started speaking to interested parties, I discovered the struggles that are fought by family members and advocates who are tirelessly searching for a cure. For example, I spoke to Ken Bihn, an Ohio accountant-turned-foundation-starter whose daughter’s diagnosis with juvenile onset Tay-Sachs changed his life. He told me he’s promised her to fight for Tay-Sachs, an oft-neglected disease, even after he loses her.

Bihn family

Ken Bihn with his family. Daughter, Dakota, in the front. He says that though she's lost muscle mass, she lifts people with her strength, cheer, and spirits. His foundation is Cure Tay-Sachs.

I also spoke with Vera, a 36-year-old LOTS patients with two degrees from Wellesley and the determination of an army.

Most of the news, though, lay in a new clinical trial for a drug called pyrimethamine that would push the deficient enzyme back into the body. What impressed me, though, was after it had been pulled by a pharmaceutical company (after it had realized there was no financial gain to be had), parents rewrote the trial’s protocol and raised funds to revive it. Incredible.

But here’s the cool part: the day after my articles were published in the special genetics issue, the Tay-Sachs Gene Therapy Consortium received a huge $3.5 million grant from the National Institutes of Health! (The articles/grant were in no way connected, obviously. The timing was purely coincidental, but neat). Anyway, I am so excited about the future of this research—scientists in different labs, in different countries, are working on different components of viral vector gene therapy. This may be the beginning of a new chapter for Tay-Sachs, one in which the diagnosis is not a death sentence.


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