‘Familial nephritis’ of unknown origin has affected my family for at least four generations. As a child, I have vivid memories of my young father struggling on home hemodialysis (with a huge machine he had to disassemble and clean himself), and then a kidney transplant at Toronto General Hospital in 1975 -- which lasted 31 years before he passed.
Some thirty years later, I was diagnosed with kidney disease, eventually receiving a kidney from my husband’s sister. My experience was made so much more difficult because no one in my family could be considered as my donor because we couldn’t take the chance that the unknown gene mutation might show up in them later in life. This knocked out all the usual suspects from coming forward to help me. There was a huge amount of isolation and fear that went along with that experience, but it planted the first seeds that kidney patients themselves had a critical role in helping others with kidney disease.
After years of genetic testing that didn't identify any known genetic issues, a new Nephrologist, Dr. Dervla Connaughton, arrived in Canada who had worked with the Broad Institute in Boston. Within months, she was able to identify what no one else had been able to find in a decade. As it would turn out, me and two of my three daughters tested positive for MUC1, a little-known genetic mutation which creates a protein that scars the kidneys over time.
I will never forget that phone call two years ago when my daughter and I finally learned we had MUC1, the genetic mutation that had plagued my family had been revealed. You might think that was a sad day, but it wasn’t.
IT WAS INCREDIBLE! We finally knew what we were dealing with. Others in my family could now get tested; they could be tested earlier rather than waiting for kidney decline, and if positive for the gene, they could be proactive about their disease progression; family members who now knew they didn’t have the gene could be considered as potential living donors to other family members. So, with that concrete diagnosis came indescribable hope.
When my middle daughter received a pre-emptive transplant from an unrelated live kidney donor in 2017, the powerful experience of helping her navigate the best possible outcome underscored the importance of patients and donors supporting each other. Post-transplant, in large part because she was proactive, she was able to have two incredible little boys who, if they inherit MUC1, may be the first generation to fully benefit from new research that shows great promise as a treatment to prevent kidney scarring. Every family deserves to have these answers, every family deserves the feeling of hope my family and I have gained in the last two years.
Of course, I am much more than a kidney patient. In addition to my talented and amazing family and friends, I also have a graduate degree from the University of Waterloo in English and Communications and work full-time as a professional fundraiser.
In my efforts to support kidney patients and living donors, I began working with fellow patients, kidney donors and researchers to establish the Transplant Ambassador Program (TAP), a unique volunteer driven, peer support program which has been helping kidney patients and living donors navigate the transplant journey since 2017. Platforms like TAP (www.transplantambassadors.ca), provide a huge opportunity to leverage stronger support mechanisms for patients with genetic CKD and to help them find the answers they deserve.
Click the video below to hear more about Susan’s story: