In 1994, at the age of 48, Megan’s father, David, was diagnosed with Fabry disease, a rare genetic disease. Living in Australia, Megan recalls that Fabry disease was virtually unknown at the time. While the diagnosis brought a sense of relief by finally explaining David’s symptoms, Megan’s own journey was, in many ways, just beginning.
After the diagnosis, Megan and the other members of her family were tested for Fabry disease. At 23, Megan was told she was a carrier of the Fabry gene and would not experience symptoms, since the common belief at the time was that the disease only affected men. In the past 15 years, research has shown that females with Fabry disease can, in fact, experience symptoms. While Megan was concerned about the diagnosis, she recalls she was too distracted by her father’s condition to think about how it might affect her own health and her plans for the future.
“My focus was on my father when I was told I was a carrier. I figured it was something to worry about when I eventually had a family,” recalls Megan. “Even though I was experiencing symptoms including gastrointestinal issues and burning in my hands and feet, I did not link it to Fabry disease because I thought I was just a carrier.”
Once he received his diagnosis, David searched for as much information as he could about Fabry disease. He also made the important decision to share information about his experience with others, becoming one of the first “patient spokespersons” for Fabry disease in Australia. Megan’s mother, Margaret, also made the decision to get involved with helping others affected by Fabry disease. One of the first things she did was write a personal and emotional article about her husband that was published in The Australian Women’s Weekly. According to Megan, sharing their experience publicly had an immediate impact.
“A lot of people read the article about my father and 55 people affected by Fabry disease contacted us. This one event showed that there was a need for a patient community. After that response, my mother went on to co-found the Fabry Support Group.” Megan recalls, “I watched as her efforts to help people began to make a difference. I eventually joined her in this important work after Dad passed away and it became too much for Mum.” Just a few years ago, as a reflection of the organization’s expanding mission, it was renamed Fabry Australia.
Sadly, David lost his battle with Fabry disease in 1999. Megan remembers her mother facing the challenge of this devastating loss while trying to remain focused on her work in advocacy. Despite her own sadness at the loss of her father, Megan found strength to work closely with her mother, expanding educational resources and launching the first Fabry patient database in Australia. While working with Fabry families is meaningful to Megan, she has also discovered some personal benefits, noting, “In addition to helping others, being involved in Fabry Australia has helped me feel useful and like I am making a difference.”
Facing her own challenges while helping others
A few years after she was told she was a carrier, Megan was diagnosed with Fabry disease. She recalls that coping with her diagnosis was an especially difficult time, “I had to learn to think of myself as a patient rather than just a carrier. I was also pregnant with my first child when my father passed away, and in many ways I delayed my grief and response to his death until after my son was born. It was an emotional roller coaster.”
During this time, Megan was caring for both her first child and her bereaved mother, which meant focusing on her own health was not something she had time for. She instead focused on maintaining her late father’s legacy by supporting her mother in leading the Fabry Support Group. Working with many Fabry-affected families, Megan remained focused on joining others to make sure Fabry Australia continued its good work, including establishing Fabry Clinics across the country, supporting patients with their clinical care.
Understanding the impact of Fabry disease among women
In her role as a patient advocate, Megan saw firsthand that the path to diagnosis for both men and women can be challenging. She recalls, “You could experience a lot of grief with a diagnosis of Fabry disease. It could feel like you were living with a ticking time bomb.”
Megan also noticed how the disease affects each woman differently. She explains, “We have met women who had very few symptoms and some who experienced severe pain and GI problems. We know some women in their 80s who are in relatively good health. Some face significant emotional challenges. It’s a broad spectrum. And while many men will choose to remain silent about their health perhaps as a coping mechanism, women often have a stronger need to connect and speak up.”
Fabry Australia works closely with younger women diagnosed with Fabry disease. They produced an ‘Understanding Fabry Disease Fact Sheet Booklet’ to help explain the inheritance pattern of Fabry Disease. They also provide counsel on family planning, encouraging women to talk with other family members, the Fabry Clinic and a genetic counsellor. Megan explained that as women age menopause can cause some symptoms to overlap, presenting new challenges in trying to determine whether symptoms are associated with menopause or Fabry disease.
“While the response to a diagnosis of Fabry disease will be personal, it is important to understand the ways that this disease affects women specifically,” explained Megan. “It is essential to look for an experienced physician and clinic. Women should also reach out to organizations like Fabry Australia to connect with other women for information and support.”
Looking ahead, Megan remains optimistic about progress. “We have come a long way in understanding the impact of Fabry disease in both men, women and children and we expect that progress to continue. Through Fabry Australia and other resources, there is so much available, including information and support, to help make the journey easier.”
SAGLB.FD.19.07.0900a Approved: July 2019