Mind & Spirit

Her heart goes on: A story of organ donation

By: Azza El Sissi / As told to Robert Fripp

Author: Canadian Living

Mind & Spirit

Her heart goes on: A story of organ donation

By: Azza El Sissi / As told to Robert Fripp
This story was originally titled "My Heart Will Go On" in the March 2009 issue. Subscribe to Canadian Living today and never miss an issue!

It is spring 1996. I wake up in the transplant unit of Toronto General Hospital. For almost seven years, I had struggled with mysterious joint pains and a weakening heart, which even top medical specialists couldn't explain. Then, doctors diagnosed me with a rare disorder that was supposed to affect only men and spare the heart. Still, my heart worsened. Finally, an unknown heart donor saved my life. This is the first day of my new life – as a survivor and an advocate.

 I grew up in Cairo, Egypt, the daughter of an agricultural engineer and a member of parliament forced into hiding when King Farouk was overthrown in 1952. I received my electrical engineering degree at Cairo University before coming to Canada in 1970, where I started working in technical maintenance at CTV and then CBC. Eventually, I became a journalist, emulating my aunt, Amina El-Saïd, a pioneering magazine editor and feminist.

Unexplainable symptoms
For years, I successfully produced documentary films for CBC's Man Alive series, but then, in 1989, my health took a dramatic turn for the worse. I had always been exceptionally fit, making a point of getting regular exercise, but I started experiencing odd pains in my wrists and shoulders, and periods of weakness during which I had to literally drag my legs to move anywhere. For someone so active and driven, this slowdown was abnormal and frightening.

Suspecting some type of arthritis, Dr. Susan Brunt, my family physician, sent me to a rheumatologist. After several referrals to other specialists over the next two years, I was eventually diagnosed with lupus, an autoimmune disorder in which the body attacks its own tissues.

But lupus didn't make sense. The disorder typically targets younger women in their childbearing years. I was 49.

As well, lupus didn't seem to explain my tightening chest pains. I was convinced there was something very wrong with my heart. But none of the cardiologists I had seen could find anything wrong. The intense chest pains persisted. Everyone was baffled. So it was back to the drawing board.

As experts pondered the cause of my symptoms, my health continued to deteriorate. One of the few physicians who listened to me was Dr. Dafna Gladman, deputy director of the centre for prognosis studies in rheumatic diseases at Toronto Western Hospital, who admitted me at once for a cardiology consultation. It was through her that I met Dr. Robert Iwanochko, the cardiologist who identified the cardiac involvement of Fabry disease, an X-related chromosome disorder that causes an enzyme deficiency, which results in the accumulation of a toxic lipid in organs such as the kidneys.

Meanwhile, I was also sent to Dr. Joe Clarke, former head of the division of clinical and metabolic genetics at the Hospital for Sick Children. After carrying out numerous tests, Clarke concluded that I likely carried the gene for Fabry disease. He and his colleagues were surprised, to say the least. The prevailing assumption was that while females transmitted the gene for Fabry, only males could develop symptoms. But here I was, a female with symptoms!

Page 1 of 3 -- On page 2, Azza describes life as an organ transplant recipient.

But they weren't classic for Fabry either; the disorder didn't typically involve the heart, yet I had these odd intense pains in my chest. Could it be that Fabry affected me, a female, differently?

Clarke took my family history: My mother, sister and cousin had died of kidney failure. My brother, who at the time was undergoing a kidney transplant in Chicago, later also died. Had they all been unsuspecting victims of Fabry disease?

Soon after my diagnosis, Iwanochko made it clear to me that without a transplant, my heart would soon give out. I was tired of the pain. I wanted to live my life again. I wasn't ready to die! I agreed to the transplant.

Having a heart transplant
Clarke attended the operation, taking tissue from my old heart for analysis. He was keen to determine if my case was the exception to the rule – or had Fabry disease been misunderstood and misdiagnosed all along? He hired a researcher to try to isolate the Fabry gene in my heart tissue.

The transplant was a mixed blessing. Technically it was a success, but for years afterward I suffered tissue rejection. "A transplant is a miracle; you would be dead without it," Brunt told me. "But this is not one of those fairy tales where you have a transplant and life is wonderful. You had a rocky road in terms of rejection."

Rocky or not, my life took on increasing importance. My survival meant science now had an opportunity to research Fabry, to prove that the disease affects females and to isolate the Fabry gene in the heart. This research was essential for the development of proper treatments. If I had died, there would be no incentive for the research to continue.

But then the research stopped. It was 1996, and the Government of Ontario was cutting budgets. Desperate, I called Senator Nancy Ruth, whom I had known since making a film about her for Man Alive. Dedicated to women's causes and issues, Ruth's foundation donated $20,000 a year for two years to research my case. Next I approached Dr. John Evans, a noted figure in medicine and education, then-chair of Torstar Corporation. He agreed to fund the research for two years.

Page 2 of 3 -- Find out if Azza can continue her research without funding on page 3.

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

Page 3 of 3

Share X
Mind & Spirit

Her heart goes on: A story of organ donation