At 19, my daughter's liver finally gave out, unable to cope with two decades of copper accumulation. I will never forget the doctor's words: “It's the only lifesaving option at this point.” I was frozen and numb.
Although it didn't feel like it at the time, we were lucky. My daughter was put at the top of the provincial transplant list in Ontario and received her new liver within 10 days of her Wilson disease diagnosis. I am forever grateful to her anonymous, deceased donor and their family, who made the decision in their unimaginable grief to give back and save my daughter's life.
Shortly after my daughter received her transplant, we had her brother tested, which confirmed that he too has Wilson disease. His liver damage isn't as severe as his sister's, and he is currently receiving a chelating medication called trientine, which seems to be slowly helping.
When I learned that both my children had Wilson disease, I wished there was a newborn screening test that could have identified their disease at birth. That wish was my introduction to health advocacy.
Since then, I have expanded my wish list. There is so much more we can do to better diagnose and treat the 1 in 12 Ontarians who live with a rare disease.
That's why I have joined forces with Beth Vanstone and Kim Steele — both powerful advocates — to build the Ontario Rare Action Group. We are working to create a grassroots movement for rare disease advocates to combine our voices and demand change.