Fabry Disease: The Emotional Side
Pain, uncertainty, and sometimes guilt can make living with Fabry disease a challenge.
Fabry disease is a progressive condition that can come with a complex range of symptoms and complications that includes neuropathic pain, skin manifestations, and gastrointestinal issues. If left untreated, this inherited condition may result in severe organ damage and serious complications, such as heart attack, stroke, and kidney problems.
The effects of Fabry disease vary from person to person: While some people have severe symptoms, other people may have mild symptoms or no symptoms at all. For people with symptoms, the condition affects nearly every area of life, including their social and family life, financial and work life, and self-esteem — a burden that can take a huge emotional toll.
There are treatments that can slow disease progression and improve symptoms, but there isn’t a cure. The disease lasts throughout a person’s lifetime, and comes with an increased risk of life-threatening complications and a shortened life expectancy. That reality can be scary, and may cause feelings of despair and anxiety.
It's important for everyone to take care of their mental and emotional health, but it’s particularly so for people with Fabry disease.
Learn more about the challenges that come with the condition and how you can navigate those issues and get the support you need.
A medical diagnosis, particularly of an incurable chronic disease, creates a lot of emotions in patients, says Angelika Erwin, MD, PhD, a physician at the center for personalized genetic healthcare at Cleveland Clinic in Ohio. “Fear is common and understandable: There’s a fear of the unknown because they don't really understand yet what this diagnosis means. After a discussion with their doctor, they may begin to understand that it will have a big impact on their life, and they can feel anxiety about the future,” says Dr. Erwin.
“Although there are some treatments for Fabry disease, it’s not curable, and we can’t make it go away — there’s a looming possibility of severe complications,” she says. That, along with the possibility of a shortened life span, can lead to feelings of despair, adds Erwin.
It’s not uncommon for people diagnosed with Fabry disease to go through a period of denial, says Erwin. They think, ‘This can't happen to me. Why is this happening? I am sure there must be a mistake,’” she says.
“They read the literature we give them or go online and read all the different symptoms and complications that can occur with Fabry disease, and they feel that these things will never happen to them,” says Erwin.
Some patients who go through this denial phase delay treatment, which can lead to more symptoms or even complications, she says. “And I think all that is wrapped up with the fear and anxiety of what Fabry disease is and what it can result in,” says Erwin.
On top of all the other emotions, adults first diagnosed with Fabry disease can even have feelings of guilt, says Erwin.
“That’s because very often when we diagnose an adult with Fabry disease, we then subsequently diagnose some of their children with Fabry disease, too, because it is inheritable, and there’s a risk that it will be passed from generation to generation,” she says.
Obviously, no one means to pass a disease on to their children; we're all carrying potentially disease-causing mutations, and often we have no idea, says Erwin. “But still, patients who have this happen can have these feelings,” she adds.
Chronic disease, especially those that go along with chronic pain, can negatively impact our emotional health, says Erwin. “Chronic diseases often lead to depression and heightened anxiety, and if that goes untreated, it can cause significant mental health issues for those patients,” she says.
Chronic pain generally decreases a person’s ability to participate in social life, says Erwin. “We all know that when we don't feel well, when we are in pain, we can't really enjoy social activities; we don't go out and do the things we usually do, like meet friends or exercise,” she says.
Financial strain due to the inability to work, having to take time off work (for treatment or due to symptoms), and the cost of medication can make life even more difficult for people with Fabry disease.
“It’s extremely variable. Some patients are able to manage work, even if they're having symptoms and receiving treatments, while others are so severely affected that they're really unable to participate in work life,” says Erwin.
A patient who has chronic pain, suffers from end-stage renal failure, requires dialysis, or maybe had a kidney transplant or even a heart transplant — that obviously compromises their ability to work, she says.
“Those who are treated with infusions may still be able to work, but it can be challenging to organize work around infusions and doctor's visits,” says Erwin.
“With respect to marriages and close relationships, it’s very interesting, because I see both extremes. In some relationships, the burden of the disease — which can require lots of doctor’s visits and treatment appointments or help with daily activities due to complications such as a stroke or a kidney transplant — proves to be too much, and the relationship falls apart,” says Erwin.
But often relationships grow stronger as a result of Fabry disease, she says. “In these cases, the partner is really an integral part of all of the patient's medical life and offers immense help and support. They accompany them to all the doctors’ appointments, are aware of all the medications, and encourage the partner not to give up,” says Erwin.
Generally speaking, individuals who were diagnosed as children often have an easier time adapting to a diagnosis and life with Fabry disease, says Erwin. “That's maybe because Fabry disease may have always been a part of their life. They don't even remember a time before they were diagnosed,” she says.
In many cases, children have an affected parent. Although that doesn’t mean the symptoms or complications will be less severe, still, they are “familiar territory,” says Erwin. “This may allow them to cope with this a little bit better than patients who are diagnosed as adults, for whom this is a completely new experience. In some cases, an adult may have never heard about this disease before they are diagnosed with it,” she says.
But as with adults, there can be variability in children who are diagnosed with Fabry disease, and it may impact their emotional and mental health in different ways, says Erwin.
Depression can be a complication of Fabry disease, and there’s evidence that it affects between 15 and 62 percent of people with the condition. More research needs to be done before Fabry’s impact on the brain and central nervous system is fully understood, and whether there’s a neurological component that would make depression more likely, says Erwin.
“We certainly know that there's accumulation of the substrate [called globotriaosylceramide, or GL3] that those patients cannot metabolize or break down, and that there's accumulation in the endothelial cells that line the interior surfaces of the small blood vessel cells in the brain. When we do brain scans (MRIs), we do see that a good number of those patients have white matter changes in their brain. That doesn't mean that they had a stroke; it just means that there's a change of the small vasculature in the brain,” she explains.
Although it’s not been definitively proven that that contributes to a higher incidence of depression or mental health issues, it’s “certainly very possible” that there is a change in the central nervous system that also contributes to patients having a higher risk for developing mental health issues, says Erwin.
“I think it's probably a combination of having a chronic illness, suffering from chronic pain, and having an accumulation of GL3 in their tissues through the body,” she says.
There are things people with Fabry disease can do to promote emotional well-being, says Erwin.
A solid support system is very helpful, says Erwin. “I know not everybody might have that strong support system, and you can’t just build it automatically out of nothing. But even if it is hard, try to create that in the ways that you can,” says Erwin.
One way to do that is by joining online or in-person support groups of other Fabry patients, she says. “Because it is a rare disease, usually patients don't know anybody else with Fabry disease. A support group can help you understand that you’re not the only person struggling with this condition and give you a sense of community. I think it is impossible for anybody who does not have Fabry disease to really understand what it’s like to live with it,” says Erwin.
There are even camps for children with Fabry disease or other rare diseases where they can connect and meet other children and other adults who can provide emotional support, she says.
The National Fabry Disease Foundation is a good place to start when looking for support groups or camps.
Don’t dismiss mental health care as unimportant, says Erwin. “Be open to taking medication that can help with depression and anxiety, and make sure that you’re treating your mental health the same way we're treating your physical health,” she says.
“Seeing your healthcare providers on a regular basis can promote emotional stability,” says Erwin. Those check-ins can ease anxiety, reassure you that you’re doing everything you can to be as healthy as possible, and ensure you get prompt treatment for any complications that may develop, she says.
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