Living with Fabry disease and advocating for the community
Fabry disease can bring a person pain, fatigue and worry. Anna, from Finland, has seen these challenges at first hand. She, her brother and mother were all diagnosed with the disease two decades ago, and Anna’s work as a patient advocacy leader over the last decade has further broadened her understanding. Here, she tells her own story, and she also gives her insights into the community’s unmet needs—focusing on the mental health challenges
A chance diagnosis
In 1996, an ophthalmologist examining Anna’s brother’s eyes noticed a hazy, whorl-like pattern in his cornea. By good fortune, he had just learnt that these opaque patterns (called verticillate) are a marker of Fabry disease.
The ophthalmologist referred Anna (who also had a small whorl in her eye), her brother and mother to a leading specialist, who diagnosed them all with Fabry disease. Anna is grateful for the chain of events that led to their diagnosis. She says, “If I had been first, I would not have been diagnosed because the whorl in my eye was quite small.”
By then, Anna’s mother was 60 years old and, sadly, she had already experienced decades of poor health.
“She worked most of her life as a university lecturer without knowing what was wrong with her. The huge issue for her was that some of her doctors never believed she was sick.”
Living in denial
Anna was reluctant to begin treatment and went many years without it, even though she could see symptoms developing in her brother. He experienced severe renal problems and ultimately needed a kidney transplant.
Looking back, Anna can see that she was in denial about her health, unwilling to see herself as a patient needing treatment in hospital. At the time of her diagnosis, she was 28 years old. Then, and for many years afterwards, she preferred to think of herself as a carrier of the disease and as a patient advocate who was motivated by her brother’s experience. “He is much sicker than I am. I am just doing patient advocacy for him,” she would tell herself, dismissing her own symptoms, which included headaches and gastrointestinal problems.
Anna’s specialist monitored her over the years, leaving the timing of treatment to her. “He kept asking me, ‘Do you feel ready, do you want to start?’ He was really nice; he left it to me to decide.”
An evolving mindset
In part, it was becoming a mother that prompted Anna to begin treatment. “I started realising that I need to take care of myself to take care of someone else. I think this is one of the reasons for my decision.”
She was pleased to find that with treatment her physical symptoms improved, including the issues she had experienced with her heart. “I used to have a lot of gastrointestinal issues, a lot of neurological issues and different kinds of things. A lot of those have vanished or they are not as severe.”
Anna’s overall mindset towards her disease has evolved over time, and she is much more accepting nowadays that she is a patient. However, she tries to maintain the positive outlook that she has always aimed for. “I am working not to have the disease define me as a person—it’s not the only thing in my life.”
“It’s important for doctors and other people to realise that we don’t sit around at home and think about Fabry disease every hour of every day. We have lives to live.”
Making the most of things
Anna works as a college lecturer, helping young people to improve their prospects, and she is grateful that she can do that, despite the limitations imposed by her disease. She believes this focus helps to keep her disease in check. “If I stayed at home,” she says, “I think I would probably be more sick.”
However, Anna’s physical health challenges persist, even now that she is accessing treatment. On a bad day, she lacks “the strength to go anywhere, not even to the grocery store”, but fortunately, those days don’t happen too often.
She finds that certain foods, or fatigue from a lack of sleep, can trigger her symptoms, while her brother, for instance, has “a different set of triggers to stay away from” and follows a different diet.
“You have to admit to yourself that there are limitations, but then you make the most of it, regardless. After a while, you learn to live with the disease and the issues, and you learn what the triggers are.”
Anna’s friends are understanding about the ups and downs in her health, and they do not put pressure on her to always be available. Anna really values this: the invisibility of Fabry disease, she explains, often means that outsiders are not so understanding, and this creates a social burden for patients. The disease’s invisibility is “a blessing and a curse at the same time”, she says.
Mental health in Fabry disease: “a great burden”
Anna has been a patient advocate since 2003 and vice-president of the Europe and Russia branch of the Fabry International Network since 2013. In that time she has seen how many people with Fabry disease struggle with their mental health. She believes that this is a “massive issue” and that mental health should be talked about and monitored much more to support patients’ quality of life. She has had to contend with depression herself.
“The annual check-ups these days are too much focused on the symptoms—the clinical symptoms to do with the different organs. They don’t realise that mental well-being is actually key.”
According to Anna, “not much is done” in most countries about depression and anxiety among Fabry patients. She feels that doctors might be becoming more aware of the mental health challenges, but “recognition has not moved towards improving treatment protocols. My suggestion would be to at least offer counselling to everyone. They don’t have to accept—patients might be at different stages in their journey and they might not be willing—but it should be offered to every patient who comes in.”
“If you are depressed, it’s really hard for you to go out and look for help yourself because it is really hard to talk about to strangers, so a referral for counselling would need to be automatic in the protocol.”
This holistic approach needs to take into account the impact Fabry disease has on families, too, Anna believes: “Counselling should be offered to patients and their partners or spouses, and probably to children as well.”
“Being a Fabry spouse is tough: living in constant fear, watching the other one in pain—we are not an easy bunch!”
Anna says many parents feel guilty about passing on a faulty gene—despite their lack of choice in the matter. They benefit from sharing their feelings with people who can relate to them. This is one reason why patient support groups are so important.
“In the patient conferences, we talk a lot about guilt. Parents need to have a space where they can really talk about it. It just doesn’t help when people say, ‘You didn’t know, you couldn’t have helped.’” Grandparents need help with these feelings too, she says. In Anna’s experience, they can feel “double guilt” if their children and grandchildren have the disease.
Caring for female patients
In the past, doctors thought females were carriers of Fabry disease rather than being affected directly. Understanding has now moved on—“probably not all over the world”, Anna remarks—but there are still problems with understanding the variety of symptoms that female patients may have.
“I think research in the future should focus more on female patients’ transition periods, like the teenage years, pregnancy and the menopause. This has not been studied.”
Peer support is important with these matters, she says. “Then, you can sit down and discuss your symptoms and the stage you are at in your life to compare notes.” Women can then work out whether their symptoms are more likely to be associated with that transition or with Fabry disease.
Anna acknowledges that Fabry patients are “luckier than those in a lot of disease areas”, in that treatment is available, but she hopes that the future will bring more effective treatments and, perhaps, one day, a cure.
“There is a lot more promise in the air now. You see all these new treatments emerging,” she says.
Anna and her colleagues at the Fabry International Network are driven by their hope that the hard work of advocates today will be rewarded with a cure for the Fabry patients of tomorrow.
In the meantime, she believes, there needs to be a focus on treating patients holistically, without neglecting mental health issues.
This digital spotlight has been made possible with financial support from Chiesi Global Rare Diseases. With the exception of a factual accuracy check, Chiesi Global Rare Diseases has had no editorial input or control over this article’s content, which was independently created by RARE Revolution Magazine, with the interview and writing support of Rhonda Siddall of Onrush Productions. All opinions are those of the contributor. RARE Revolution Magazine and Chiesi Global Rare Diseases are not responsible for the content of any external sites linked to within this article. RARE Revolution Magazine retains all copyright.