Fabry Stories
Fabry Awareness Month 2023
K's story, USA
"I remember my childhood being very painful, I loved sports and it proved to be very difficult to enjoy them when my hands and feet would burn. I would often run outside mid-winter and stick my feet in the snow trying to numb the pain. As an adult the treatment I'm on helps for the most part but there's always lingering thoughts of what could go wrong and what my future will look like when it does.
“I get treatment bi-weekly so this affects my life as I will always need to work around that schedule.”
I’ve been lucky with my career thus far but I honestly don’t know how others with Fabry fair trying to have a career and live with Fabry.
I love to travel. I would love to live somewhere remote but I don’t see that happening with the treatment plan I am on.
“I don’t sweat, I have vertigo, burning hands and feet when I’m active or the weather changes drastically. I’m exhausted all the time. I’m never not tired.”
I wish we would have fought earlier to get me on a treatment plan. At the time women were just viewed as ‘carriers’ so they didn’t need treatment. That is not the case, I have several female relatives who have suffered multiple heart attacks and strokes, just as my male relatives have.”
Thank you to ‘K’ for sharing their story with us.
P's story, USA
"Fabry disease has imposed a long history of pain
and sorrow in our family. For me it
began with pain. About the age of five I can remember laying on the couch
crying from pain in my legs. My mother would comfort me with warm towels and
assurances that it was just growing pains, that would go away. It lasted for several years with little
relief. Slowly it did go away, following the pattern my mother said it
would. We did not consult a doctor since
this was a 'normal' part of life.
I also became acutely aware of my missing
grandpa. My mother used to sing a song
about how wonderful he was and how she missed him. He had died when my mother was only ten years
old from complications of an unknown disease.
I remember listening to the family stories about his suffering and constant pain. They lived on a dairy in Texas and when it was hot, they laid their gunny sacks on him in the barn to keep him cool. He could not stand the heat to do the dairy work so he got a job driving a model T truck as a delivery man between Houston and Galveston. The breeze from driving helped him get through the hot days of the year. His wife carried the responsibility of working the dairy. My mother, the first-born child was responsible for watching her siblings very early in life. By the time she was ten, she was experienced in childcare.
“Despite having consulted many doctors looking for a miracle cure, grandpa died at the age of 38 leaving his destitute wife, four children and another child on the way. No one knew why he had suffered so much.”
As I grew up, I was often around my mother and aunts in the kitchen as they talked about family matters. All three women had inherited the Fabry gene unknowingly. In our family, shared symptoms did not raise any alarm that something was terribly wrong. Conversations about home cures for chronic constipation and chest pains were common. How to handle the cold and heat intolerance were compared. They laughed at their eye doctors who wanted to take pictures of the corneal whorls in the eyes of all the women. No ophthalmologist had mentioned any health concerns related to the corneal whorls, just that they were unusual.
I observed my mother’s decline in health along with her sisters. The tears they shared from the fatigue and desperation of wanting to keep u with the basic life chores tore at my heart. I became my mother’s caretaker and helper as a young adult. All the sisters had enlarged hearts and began having strokes before they were 60.
In the late 1970’s, I was working in the medical field with access to a large medical library. I began to do my own research in to what had caused my grandpa’s early death. His inability to sweat and chronic pain were clues to his disease. Also the corneal whorls found in the women lead me to discover the name of a rare disease, Fabry, that I became suspicious was our problem. However, when I asked any doctor, they said all women are just carriers of Fabry and I should not worry about it.
I became a mother of two daughters, one of which inherited my Fabry gene. I watched her experience leg pain and I remembered my mother’s words of wisdom and repeated it to my little girl. I mentioned the corneal whorls to eye doctors and my daughter had them also. I knew in my heart she had inherited the gene, but as usual, the doctors either did not believe me, or they congratulated me on how lucky my child was to be a girl.
“It was not until 2016 that I met a doctor who believed my research enough to run a blood test to confirm my self-diagnosis of Fabry. By that time, my mother and her sisters had already died from strokes, heart disease and dementia.”
We had retired to live on a sailboat in the Eastern Caribbean. To be diagnosed with Fabry began my journey into Enzyme Replacement Therapy (ERT). That meant giving up our lifestyle, moving off our boat and becoming a stationary land dweller. ERT infusions every two weeks were an anchor to our life we did not want. Our calendar became cluttered with doctor visits instead of adventures.
I was just fortunate I had paid for health insurance consistently over the years. Therefore, I could not be denied coverage for the expensive treatments that could have ruined us financially. My husband learned to give me my infusions himself which gave us more freedom to travel in and RV. Yet the freedom was also taken away when I got on Medicare that did not cover home health.
“I was entering the age that Fabry was really impacting my health. I had the chest pains that stopped me in my tracks when walking anywhere. I had flashbacks of my mother doing the same.”
Within a year, I went from walking four miles a day to barely walking one. I had an attack of atrial fibrillation that landed me in the hospital. My heart impacted my energy, but Fabry has it’s own fatigue factor that is more insidious. It develops over a long period of time so you don’t notice the change. Eventually, I found myself only able to do one household chore then returning to my chair to rest. I could only wish to have the energy to get and gardening done.
Summertime heat became unbearable and cold weather turned my fingers and toes blue. I understood the tears my aunts and mother shared in their frustration over trying to do ordinary things.
“Fabry can affect family relationships. It is hard on a marriage to take away the dreams of travel and adventure from your healthy spouse. I am fortunate to have a supportive, loving spouse, but I feel bad he had to do so much for me.”
Fabry has damaged my relationship with my daughter who blames me for her diagnosis. It is difficult for young people to accept their future limitations.
I consider myself very fortunate to have relatively mild Fabry disease. After attending a conference for Fabry patients, I saw the level of suffering other men and women endure. I decided to volunteer for a gene therapy study.
As a person in the medical field, I have always had a curiosity about the discoveries in genetics. I also felt I had much to contribute to help other people (and my own daughter) with Fabry, have hope for a better life.
Fabry has a ripple effect for bring suffering and struggles to families financially, emotionally, and physically for generations. The dream is for a cure, but a more effective treatment would help. So far, my experience with the gene therapy treatment I received has been very good. I no longer must be on ERT infusions which has been a big gift of time. Most of all my Fabry fatigue is lifted. That feeling alone, of having energy to get back to living life is incredible.
I do not know how long the treatment will last, nor how it will affect my overall health, but it was worth every second.
I am very grateful for the scientists, nurses, and medical team who are working on a cure. Hopefully Fabry will become a footnote in the history of medicine and gene therapy a celebrated cure for many other diseases."
Thank you to ‘P’ for sharing their story with us.
M's story, UK
"I suffered from the age of seven with sever symptoms but I was undiagnosed until the age of 25. I was repeatedly told there was nothing wrong by 7 different hospitals and medical staff and it was likely to be a psychological issue causing the pain. During those years, it progressed to an unbearable level and my mental health and overall health suffered massively.
“I needed a heart operation when I was 18, but I still went undiagnosed.”
Raising awareness to avoid any other kids suffering through tortuous pain on a daily basis is vital in giving them a life worth living.
For me, Fabry is something I try extremely hard to forget about as I go about my daily life but having Fabry is always there. It can affect all aspects of your life and leave you feeling depressed and anxious. The neuropathic pain, the feverish aches, and the muscle burning sensations are always there in some form or another. Due to this exercise is almost impossible. Holding attention and focus is difficult, and the fear of triggering a full blown Fabry crisis by simply walking the dog is ever present. The poor circulation a lot of patients tend to deal with causes cold muscles which can cramp and cause spasms. Fabry causes many to have similar symptoms to IBS which makes eating spicy food unbearable. Meal planning is something that requires thought and eating out is challenging due to needing access to toilets for longer periods of time.
“Fabry is causing problems to my kidneys, heart, nervous system, stomach, and even my eyes and ears.”
It can take control of your life if you let it so it is important to manage symptoms in the best way possible. With pain medications, structure to daily life, doing what works well, and planning in advance for events and activities.
I use medication, counselling, and tattoo addiction to deal with the pain and symptoms. I do tend to imagine the pain as tattoos. It helps me push through it if I imagine I am getting something in return. It’s not full proof and Fabry pain is a lot worse so it isn’t easy to think of anything but the pain. I do get tattooed every so often to remind me of the feeling. It’s not something I’ve heard anyone else try but it’s one of the tactics I use when the pain gets to me.
“Over the years, I’ve tried everything to mentally battle it. Especially when my GP told me it was all in my head. When the doctors kept telling me this, I built mechanisms because I believed I was just soft and it was all in my head.”
I’d love to talk to someone who went through something similar without being diagnosed and dealing with the severe pain as I have. I would love to know what they did to get by because looking back, I have no idea how I managed to it and did what I did.
Living a healthy lifestyle with limits to smoking, drinking and eating unhealthy foods is a priority.
“I just wish I was diagnosed sooner.”
I think awareness and testing Fabry patients early is key to giving patients the ability to manage the illness and slows down the progression before developing further problems.
So that’s why awareness month it so important.”
Thank you to ‘M’ for sharing their story with us.
D's story, USA
"Living with Fabry causes a lot of worries for me. When I was younger, it was little things like wondering every day if you're going to have GI problems or not, or how you might handle warm weather and if you'll overheat and be in pain. As I get older, I worry more about bigger concerns.
“Is my heart okay? Is the treatment working well enough? Could I have a stroke? There is an undercurrent of worry.”
With treatment, a lot of the barriers I faced are lesser for me personally, although I think I’m very lucky in that regard. I used to have much worse GI symptoms that appeared to be random; cramping, diarrhoea, bloating, that would come in ways and last for hours. There’s a good chance when you’re dealing with that, that you can’t leave the house, so you might have to call out sick. In the US, I had limited sick time so it was a big challenge to try to get through it and get going. With my current career, it involves visiting clients in their labs to work on equipment, and missing work means rescheduling last minute. I am fortunate that treatment has really helped with the GI issues otherwise it would be much more difficult to get to work. Even now, I have somewhat low exercise tolerance and overheat due to low sweating, so working at customer sites with large campuses can be a problem in the summer.
“I usually plan way ahead for warm days to have time to stop and cool down and drink water if I have to walk anywhere.”
Most of my symptoms now are the ‘invisible’ ones, I have some left ventricular hypertrophy, hyperhidrosis, and GI issues mainly (luckily GI issues happen way less often and are less severe now).
“My kidneys seem okay from all the tests but it’s something that needs monitoring.”
Knowing my diagnosis from an early age definitely had some impact on certain decisions, especially about not having children. The genetics of the disease mean that if I had a son he wouldn’t inherit it, but having a daughter would mean she’d definitely have the genetics. Because of that, I decided that I didn’t want the risk of passing this on and opted not to have kids. There are a million reasons people choose to have kids or not, so a Fabry diagnosis doesn’t mean one shouldn’t, it just informed that decision making for me personally.
Enzyme replacement therapy is the biggest help for managing symptoms, otherwise there doesn’t seem to be a lot I could do. GI symptoms don’t respond well to OTC treatments, like bismuth tablets, so it’s just getting through. I also take Plavix as a primary stroke prevention.
My family was pretty well informed and I was diagnosed as a child. At the time, there was no ERT, it was only when I was in late high school and early college that any ERT studies were happening. Part of me wishes I could have been on the studies then, but it was too disruptive in my circumstances to participate and looking back I’m a little glad. Never being on ERT prior to the clinical trial may have helped me be a candidate for it, and all the information I have indicates its better treatment than the other ERT option.
“I would also say, once again, that I know how lucky I am given the circumstances.”
My symptoms are mild compared to some people I know, including cousins in my family. I have fantastic care and some treatment. Not everybody gets those options, even if a research study makes it free.”
Thank you to ‘D’ for sharing their story with us.
