Growing up, sisters Christy, Heather, Michelle and Tami watched as their father faced the challenges of living with a rare genetic disease called Fabry disease. They remember days when the pain in his hands and feet or fatigue made it difficult to work or even get out of bed. They also recall the work their mother did to take care of their father, all while raising a family. As kids, they saw the many ways their parents worked to live life to the fullest. As adults and now mothers themselves, that example stays with them every day.
“The basic thing we learned from our parents was that it was possible to live with Fabry disease and still have a positive attitude,” recalls Michelle.
Above: Heather, Tami, Christy and Michelle – photographed together in 2019.
They all agree that the fact that there was very little information about Fabry disease in women in those years made things more difficult. Females were once considered “carriers” of the disease – meaning they carried the gene for the disorder without developing symptoms. The sisters found that many doctors knew very little about the impact of the disease in women.
“I can tell now that I did have symptoms as a young girl including fatigue and pain in my hands and feet, but I thought that was just normal. I thought we were just carriers so there was nothing to worry about,” says Michelle.
“One of the key points for women in those days was that there were no baselines. We had nothing to compare our experience to,” adds Tami.
Creating a network of support was always an important way of coping for the sisters. “We could see the impact of Fabry disease on our father and uncles, and we were able to share information and support with each other – and that made a tremendous difference,” said Christy. “I think that women especially need emotional and psychological support to face the challenges of Fabry disease.”
Understanding the impact of Fabry disease
Despite having a family history of Fabry disease, the path to diagnosis for the sisters was not easy or immediate. At that time, the widely held conclusion that women were just carriers made it easy to ignore symptoms or attribute them to other causes. “Even after I saw that my sisters were affected, I was still in denial. I kept thinking ‘Fabry disease is not my disease.’ It wasn’t until I had kids of my own that I really started paying attention,” Christy remembers.
The sisters note that having and raising children, getting married and explaining Fabry disease to your spouse, considering career options, and being proactive and assertive in managing your own health are among the major concerns after a Fabry disease diagnosis. “You learn very quickly that Fabry disease affects every part of your life. Whether it is being a wife or mother or having a career, there are certainly days when I feel like I dropped the ball,” Tami says.
All of the sisters went on to marry and have children, continually using the positive attitude they saw in their dad as an example. Michelle recalls, “We watched our father continue to do the things he enjoyed even as his health declined. As a wife and a mother, I know I have to follow his example with a good attitude. Sometimes I am scared, but I know I have to keep going.”
When it comes to parenting, each of the sisters notes that women are likely to have many valid concerns, but when it comes to having children and planning for the future, they also feel optimistic.
For Christy, having a supportive partner has been essential, noting that her husband “provides any help I need, including understanding when I need to take naps. We have chosen to let Fabry disease make our relationship even stronger.”
Tami recalls talking about Fabry disease with her husband before they were married. “I told my husband that I had Fabry disease and that I was not sure what that meant in terms of having a family. He was so supportive.”
Fabry disease in women
Over time, as understanding of Fabry disease in women has expanded, access to information and support has also grown. But the sisters readily acknowledge that living with Fabry disease is not always easy, especially for women.
They agree that finding a medical specialist who understands the effects of Fabry disease in women and who can be a true partner in their care is imperative, noting that many women may be hesitant to be their own health advocates. According to Heather, “It is so important to find a doctor who really listens, because women don’t fit easily into the standard Fabry disease ‘medical box.’”
With four women in the same family living with Fabry disease, the sisters recognize how lucky they are to have a built-in support system. “We speak to each other regularly by phone and text – sharing health information or asking how the others are doing,” says Heather. They understand the benefits of mentoring and regularly reach out to other women and men diagnosed with Fabry disease. They even hand out cards with basic information about Fabry disease.
They suggest that women should take steps to try to access all the resources available to women through advocacy groups, events and online platforms. “You want to talk to as many people as possible,” says Michelle.
Finally, they think it’s important that everyone understand that it’s OK to be emotional about Fabry disease.
“Women often assume a nurturing role and are hesitant to complain, but they need to recognize that it is also important to take care of themselves,” says Christy. Her sisters agree, noting that it is OK to admit when you are having a bad day and not push yourself too hard.
Tami says, “Every once in a while, I need a day to myself. I call it having a Fabry day.”
“It is important to be honest with yourself. It’s OK to have a bad day and be low, just don’t let yourself stay low,” echoes Heather.