Ethan Schachter was born with a rare genetic disease. Now his mom is raising over $1 million to find a cure

Ethan Schachter was born with nemaline myopathy type 2, a rare genetic disease that Ashkenazi Jews are at a disproportionately high risk of having. (Supplied photo)

Ethan Schachter was born with a rare genetic disease, nemaline myopathy type 2—a type of muscular dystrophy—that disproportionately affects Ashkenazi Jews. It’s not always fatal, but Ethan, at 20 months, needs round-the-clock care, including a machine to help him breathe and a tube for nutrition. He can’t walk or talk because his muscles are too weak. Currently, there is no cure.

Doctors have only known about this form of the disease for about 15 years. And it’s so rare—only one in 47,000 people have it—that couples trying to conceive aren’t automatically screened for it in Canada, where Ethan is one of maybe four or five kids who live with the condition.

Ethan’s mother, Toba Cooper, wants to change things. She recently launched a crowdfunding campaign to raise more than a million dollars to help researchers develop a made-in-Canada treatment for her son’s condition. And she hopes to raise awareness so the condition could be added to the list of eligible tests. Cooper joins The CJN Daily today along with Jim Dowling, a doctor at SickKids Hospital in Toronto, who is one of the world’s foremost experts on this rare disease.

What we talked about:


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