$11M donation ‘an incredible opportunity’ for researchers studying rare genetic condition

A Toronto hospital network is celebrating an anonymous $11-million donation aimed at helping researchers understand a rare condition. 

Neurofibromatosis (NF) comes from a genetic mutation that causes tumours to grow on a person’s body to varying degrees. The money is going to the neurofibromatosis clinic at the University Health Network (UHN) — the first clinic of its kind in Canada.

Cynthia Cheng Mintz, 42, has lived with the condition since she was young. And while she says it doesn’t affect her daily life too much, she told CBC News doctors need to monitor her condition regularly as some of the tumours could become cancerous.

“I just have to do more scans and MRI’s and things like that than the average person,” she said.

“I had to start getting mammograms a lot earlier than other women. And in addition to mammograms, I also have to have the breast MRI, which is actually very uncomfortable.”

1 in 10,000 Canadians affected

Neurofibromatosis affects approximately one in 10,000 Canadians, according to a news release from UHN. While the tumours can cause embarrassment for some of those affected, the disorder also comes with the risk of disfigurement, blindness and hearing loss, in addition to cancer. The announcement of the donation on Tuesday was fitting as May 17 is World Neurofibromatosis Awareness Day.

The money will help the clinic hire a neurosurgeon who specializes in treating people with the disorder and will allow it to collaborate with other research centres, says Dr. Gelareh Zadeh, medical director of UHN’s Krembil Brain Institute.

“This is one of the single largest donations to NF research,” she said. “It’s really an incredible opportunity … to advance the field and to be able to have better management options for the patients.”

Research in this area has been historically underfunded, Zadeh says. She hopes the donation will help researchers push the needle in the right direction. 

As for Cheng Mintz, she’s celebrating alongside UHN’s research team.

She rejects the stigma associated with talking about her disorder. Spreading awareness is a big step in securing the funding needed for more research, she says.

“The more funding we put into research, the quicker we’re going to find improvements and better treatment for these conditions.”