Growing up in Finland, Anna watched as her mother, Riitta, and brother, Juha, experienced unexplained health problems including fatigue and pain in their hands and feet. Anna also had mild health problems, but, with no answers as to why, Riitta comforted her children by telling them they were “just different.” Finally in 1996, the differences became clear when they were all diagnosed with Fabry disease. Anna recalls, “We always knew that there was something wrong. Having a diagnosis made it valid. It was a bit of a relief.”
Today, as a daughter, sister and mother, Anna recognizes the impact Fabry disease can have on women and entire families. She has seen firsthand the challenges many women living with a rare disease can experience, especially in countries where there are limited resources about the disease and very few patients to meet. Anna’s family was among the founding members of the Finnish Fabry Association. She was also involved in the establishment of HARSO, the first organization of its kind in Finland to focus on the needs of people living with rare diseases.
Fabry in a family
Watching as her mother aged with Fabry disease was emotional for Anna and made her wonder how her own experience with the disease would compare. She says, “It can be difficult to watch any parent age, but Fabry disease can make that experience so much more difficult. As a daughter and caregiver, you take steps to help a parent cope but you also wonder ‘will this also be my experience?’”
With that in mind, Anna is careful to recognize that everyone experiences Fabry differently. “When we compare information, my mother’s and my brother’s symptoms are generally more severe. Sometimes I have to remember that when I discuss my own health or offer advice,” she says.
Anna also talks with her own daughter about Fabry disease. While her daughter does not have Fabry disease, there is still an impact. She encourages her daughter to openly discuss personal or sensitive issues. And while her daughter is not affected by Fabry disease or a carrier of the gene, she regularly counsels young women with the disease to learn about the options for genetic testing and understand how they will respond if their own children are diagnosed.
“As a parent with Fabry, you have to find a balance on many issues. You have to decide how much you want your child to cope and when. Many kids care deeply about how Fabry disease affects their parents, but still don’t want the hassle of explaining it to all their friends.” Anna adds that she understands the sentiment, often feeling the same way herself.
DAnna also strongly encourages women to take time to focus on their own needs. She says, “Now that I am older, I see the importance of being kinder to myself. When I was younger, I was much more likely to push myself – working, taking care of the house, preparing meals. Now I know it is ok to order take-out once in a while!” She also has found her career to be a vital element in protecting her physical and emotional health and calls for more support to help other women with Fabry disease achieve the right work/life balance.
“I think I would be less healthy if I did not work, but that is for me. The key is to help everyone remain as active as they want to be,” she says.
Focusing on women with rare diseases
Anna’s leadership in advocacy in Finland has given her important insights about the experiences of women with Fabry both in Finland and in other countries. She notes that in certain countries, resources about the disease are very limited or non-existent, including many Eastern European and African countries. The need for services and information to support women from early childhood through adolescence and then through planning for pregnancy, childbirth and parenting, menopause and beyond is vital. Anna advocates for programs that provide a holistic approach to wellness for women with Fabry disease, including psychological health and quality of life.
“In the early days, I can remember that we were afraid to say publicly that we wanted disease management for Fabry. Now we can talk about the prospects of patients raising families, working and living a regular life. Things are so different compared to 10 years ago. We can be optimistic that progress will continue,” she says.
Anna doesn’t deny that Fabry is a part of her life, instead recognizing that it is just one part: “Every year my new year´s resolution is to be a lot kinder towards myself. There is so much to look forward to in life, even with Fabry disease. There are so many good days.”