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Cynthia Cheng Mintz is a force.
The lifestyle blogger, podcast host and philanthropist is also mom to a rambunctious three year-old son.
"He is my
everything," says Cynthia, smiling.
It wasn't an easy journey to parenthood for Cynthia and her husband, Adam, who used a surrogate and donor embryo, for their pregnancy.
In addition to epilepsy, which Cynthia was diagnosed with at just six years old, she lives with a disease called neurofibromatosis, a genetic condition which causes non-cancerous lesions to grow on her body.
Neurofibromatosis affects approximately one in 10,000 Canadians and can also cause complications such as blindness, hearing loss, disfigurement and an increased risk of cancer and neurological disorders.
"I was diagnosed with neurofibromatosis in my late teens," Cynthia remembers. "It was a difficult time, but I was able to go away to Queen's University, and even study abroad in my third year."
"In the early years, it felt like more of an inconvenience. But, I remember the comments from people about the lumps that I had on my body. That really hurt," she says.
"Now, I wish people would ask me about it, rather than ignore me or turn away."
On World Neurofibromatosis Day, Tuesday, May 17, an anonymous donation of $11 million in support of neurofibromatosis research at UHN will go a long way to addressing this crucial need, for patients living with the condition.
"A rare disease, neurofibromatosis has not been widely studied or understood in the past," says Dr. Gelareh Zadeh, Medical Director of Krembil Brain Institute at UHN and co-Director of the Neurofibromatosis Program at UHN. "Our team is so grateful for this gift, one of the largest ever in support of neurofibromatosis research."
"This donation will be transformative in the research we do at UHN and will help improve the outcome, experiences and treatments of patients with neurofibromatosis, an often still hidden condition."
Dr. Vera Bril, co-Director of the Neurofibromatosis Program and a clinician-investigator with the Toronto General Hospital Research Institute, says: "With this new investment, we will be able to further understand what happens in neurofibromatosis tumours that start out benign and then become cancerous.
"Current treatment options are limited, so this research is essential to help identify more targets for therapeutic intervention."
Part of the funds will go toward establishing the Elisabeth Raab Early Career Research Chair in Neurofibromatosis at Krembil Brain Institute that will allow the recruitment and support of a neurosurgeon-scientist in the field of neurofibromatosis, dedicated to advancing care and research in the field.
"Currently there is a shortage of medical and scientific experts in the neurofibromatosis field," says Dr. Zadeh. "This gift will help to promote research and development excellence in neurofibromatosis care.
"Most importantly it will strengthen our collaborative work with other leading neurofibromatosis programs globally."
The Elisabeth Raab Neurofibromatosis Clinic is a Krembil Brain Institute program at UHN, with clinics located at both Toronto General Hospital and Toronto Western Hospital. It is the first, and remains the premier, clinic of its kind in Canada, offering clinical care, clinical research and basic science research for adults living with neurofibromatosis.
As patients often see multiple doctors depending on the complexity of their condition, UHN's breadth of specialists means the clinic is a one-stop shop for most patients. The clinic provides the multidisciplinary care required for neurofibromatosis, under one roof.
Today, Cynthia sees a healthcare team, including several specialists, regularly. She goes for mammograms several times a year, as well as standard and vascular MRIs.
"Sometimes it feels like a full-time job on top of everything else, but I want to stay healthy for my family," says Cynthia, who has also become a dedicated patient advocate.
"There needs to be more awareness of this condition and the impact it can have on patients," says Cynthia. "That's the only thing that's going to lead to new treatments and hopefully, one day, a cure."