While still fighting tissue rejection and postoperative weakness and pain, I raised partial funding to continue the research into my case. A few months later, eureka! Clarke's researcher isolated the Fabry gene in my old heart. Vindication at last. My instincts had been right.
Clarke now hopes to determine whether enzyme activity in my heart muscle is different from that in my other tissues, which would suggest that the chromosomes were activated in a different way in the heart. "We suspect that may be true in some women," he says.
The past few years have been quite an adventure – one in which many people have played a crucial role. My medical team helped me fight tissue rejection and pain through many posttransplant years. And Clarke's research began to pay off. A company called Transkaryotic Therapies (TKT), now Shire, was developing Replagal, an enzyme replacement therapy for longterm treatment of patients with Fabry disease. I began receiving it on compassionate grounds, thanks to TKT and Health Canada (it was approved only for males). I was the first woman to be treated with Replagal. Slowly the pain came under control.
Somewhere, a family donated a loved one's heart, and an unknown donor saved my life. And through me, that donor may also be dramatically improving the lives of many others. My case has proved to doctors that Fabry affects women, and that it can strike the heart.
And this research isn't just improving the lives of patients with Fabry; it's also helping to yield answers about how other genetically transmitted diseases, such as Hunter disease, affect females. For example, funds I helped raise have gone a long way toward improving diagnostic facilities at research institutions in Toronto and beyond, something I'm very proud of. My new heart is raising the quality of care, and life, for present and future patients. One heart, one gift – and ultimately many beneficiaries.
Have a heart
Because Azza has a rare blood type, she only had to wait 11 weeks for a donor heart, but for patients with a more common blood type, such as type O, the wait is much longer. And while the survival rate following a heart transplant has improved over the years, the number of operations is restricted by a shortage of donor organs, according to the Canadian Institute for Health Information.
In 2007 there were 169 heart transplants carried out in Canada (this is the number of transplants, not the number of recipients, as some recipients may receive more than one transplant), and at the end of that year there were 115 people on the waiting list for a heart transplant. Between 1993 and 2003, 375 Canadians died while waiting for a heart transplant. Consider completing the organ donor form that in many provinces is attached to driver's licences.
Read more:
• Treating heart-related illnesses
• Love your heart
• What you should know about heart murmurs
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