Celebrating 30 years of Fabry Australia with ‘30 Fabry Stories, from the Australian Fabry Community.’
Megan lives in Sydney with her husband and two adult children. She served on the Board of the patient advocacy group Fabry Australia from 1999 to 2021 and was Executive Director for five years. In 2016, she was awarded an Order of Australia for her advocacy work with the rare disease community.
“There are many more options for treatment and family planning now.”
I have no recollection of being formally diagnosed. However, I was told I was a carrier of the disease when my late father was diagnosed in 1994. No one knew much about Fabry then including the medical profession. Back then it was thought women were only carriers and not affected. The knowledge of Fabry’s in women has changed since that time.
After Dad’s diagnosis, my mother, Margaret, wrote an article in the Australian Women’s Weekly about his experience, and all these people got in touch, saying, “I have the same symptoms.”
Mum and Dad were co-founders of the patient advocacy group, which helped inform and connect people living with Fabry. In over thirty years, it has grown to be incredibly successful in building a community around Fabry patients, families and the medical profession.
When I was getting married, my husband and I had genetic counselling as we were planning on having children. This helped us understand how Fabry was passed on genetically.
It wasn’t until my son was born in 2002 that we had both our children tested. We discovered that my daughter didn’t have Fabry, but my son did.
I didn’t really have many major health issues until I turned 50. It was then that I qualified for enzyme replacement therapy.
Our biggest achievement as a patient group was supporting clinical studies on Fabry in Australia and subsequently obtaining funding for treatment under the Federal Government’s Life Saving Drugs program.
In the absence of a cure, my hope is that Fabry’s disease will eventually disappear. There are many more treatment and family planning options available these days giving greater choice and hope to those living with Fabry.