How One Fabry Patient Is Fighting Back

Nov 7, 2018 | Patient Blog

Enough is enough. For Linda and her family, the journey to find answers was a lifetime in the making. A lifetime filled with pain, sorrow, loneliness, and heartbreak.

It would not be until the age of 48 when an answer would finally come. For Linda, and her now Fabry diagnosis, it would not erase the pain from the past, but it now would set a course for the future. A passionate, patient advocate who spends time speaking out and educating people about Fabry, Linda is on mission.

Recently, PSI reached out to Linda to talk about her story. And believe us, it is a story that must be heard. After a lifetime of unanswered questions, Linda would finally get her answers. But not before her life had been completely turned upside down by this rare disease.

Linda explains, “I first discovered I had Fabry in June of 2014 at the age of 48. Not knowing what was wrong had a great impact on my life as I grew up. I felt a great sense of isolation as well as depression, frustration and confusion when the doctors couldn’t help me and/or didn’t believe how I was feeling. I often would pass out if I became overheated, which meant I wasn’t included in a lot of activities because I was the young lady that blacked out.”

Stop for a moment and let that sink in. Excluded and alone, Linda endured a childhood no child should ever endure.

“Life growing up being affected by something that was undiscovered was painful and lonely. It was depressing to watch all the neighborhood kids play outside on the block and I couldn’t join them. I wanted to, but couldn’t. I couldn’t take the heat and I tired easily.” Linda continued.

How One Family Was Affected By Fabry

Over the course of Linda’s life, she endured much. Not only was this undiagnosed disease affecting her, it was also affecting her family, too. As she tells us about how Fabry has affected her life, one cannot even imagine.

“The effects of Fabry on my life have been a history of Strokes and T.I.A’s (mini-strokes), intolerance to heat & cold and exercise, pain, including my hands legs and feet, an irregular heartbeat and gastrointestinal issues. Also, the frustration of seeing doctor after doctor after doctor and never getting an answer for my pain and other issues.” Linda tells us.

Pivoting seamlessly from how Fabry has affected her personally, with heartbreak, Linda discusses how this rare disease has impacted her entire family.  

“Fabry affected my entire family although undiagnosed. We buried so many of the young in our family, which included babies. The family did put it together that we were dying young and that everyone had the same issues as nerve pain, heart issues, kidney issues, pain in the legs hands and feet. But that’s all we knew. My entire family suffered greatly from Fabry. I later learned that others in the family had been diagnosed with Fabry. When I was diagnosed there were already nine cousins living with Fabry. This disease has affected my family as a whole because there were so many needless deaths, including the death of my brother at 17 years of age, he died of a heart attack.”

How can this be? When is enough, actually enough? When does it stop? These are the questions that go through my mind as I listen and feel every word Linda speaks.

A Century Old Rare Disease Can Take A Lifetime To Diagnose

Affecting 1 in 117,000 people, Fabry disease was discovered in 1889, yet sadly, to this day, can take a lifetime to discover. But what is Fabry disease? As an advocate and speaker, Linda educates communities on what Fabry is, so we asked her.

“Fabry is a lysomal storage disorder. Fabry is a genetic disease, it’s a deficiency of an enzyme called alpha-galactosidase (a-Gal A) that causes a buildup of a type of fat called globotriaosylceramide (GL-3) in the body. With a buildup of gl-3 in the body it can cause numerous problems that affect the body. Fabry affects the eyes, the kidneys, the skin, the heart, the nervous system as well as gastrointestinal issues and psychosocial issues.” Explains Linda.

Although diagnosis had put to rest a lifelong journey of such pain and heartbreak by solving a mystery that plagued Linda and her family, it has also altered her life drastically.

How A Fabry Diagnosis Can Change A Life

Since my diagnosis my life has changed drastically, having bi-weekly infusion treatments eases some of the symptoms and slows down the progression of my Fabry disease. It also gives me a greater peace of mind, knowing what I’m living with. I became, I guess what I’ll call, my “Family’s Advocate” as I now encourage each family member to be tested for Fabry and educate them about the disease and the effects it would have on their bodies.”

Now on mission, Linda worked tirelessly to educate her entire family about Fabry as well as to see that they all were tested. Shockingly, yet heartbreakingly feared, Linda, after a brief pause, shared with us the results.I encouraged and supported them until they were all sadly diagnosed with Fabry disease. That would include my mother, two brothers, my sister, a niece and a great niece (1-year-old).”

Even though it heartbreaking to get those results for her family, for some, it will, too, put to rest years of questions void of answers. While for others, it will spare years of life lived, wondering about what was wrong with them. A catch-22 indeed.

On Mission: That All Should Know

As Linda continues to fight Fabry, she has taken the fight beyond her own body and to the halls of universities and other events where she speaks out on the rare disease, symptoms, and what she has learned. In this, and one person at a time, Linda’s mission is that all should know.

“I want people to know that Fabry is an invisible illness, so don’t judge me by how I look, because I may look okay, doesn’t mean that I am. I want people to know it’s not something that can be fixed by changing the way you eat. I want people to know that Fabry is disabling. That it’s difficult for people with Fabry to plan ahead, because we never know how they’re going to feel the next day. I also want people to know that it’s a misconception that women with Fabry are only carriers.”

As Linda shares her message about Fabry Disease, make no mistake, she not only is on mission, but she is also making a huge difference. If you have ever had the opportunity to speak with Linda in person, you’ll know exactly why. One can never walk away from the encounter deeply moved and yet, also, completely empowered.

“I talk to and try to educate all that I know and associate with about Fabry Disease. I also speak to other Fabry patients who are suffering from depression because of their diagnosis or who are fearful of doing infusions. If they’re afraid of doing treatment, I explain to them what it’s like to have infusions and answer all their questions to help ease their fears and to let them know that they’re not alone. I offer my and phone numbers, email address or we Facebook so that we can stay on our journey together. I know the loneliness of doing it alone.”

In taking her message to colleges, Linda feels she is making a difference by essentially paying her message and experience forward for others who will be diagnosed with Fabry in the future.

“While at a college speaking to medical students about Fabry disease, I couldn’t help but feel that I was helping to benefit Future Fabbers. Since none of my doctors knew about fabry disease, it felt amazing to know that these future doctors would be well-educated about Fabry disease and could easily recognize the symptoms and not just having book knowledge of it because of my voice. It was wonderful.”

What Are Some Fabry Symptoms To Look For?

As part of Linda’s message about Fabry, she describes for her audience some symptoms for possible carriers to look for. Perhaps in this, she can save others from the lifetime of heartache and pain she had endured before finally getting some answers.

“If you’re told by the doctor that you have mitral valve prolapse, protein in your urine, have unexplained swelling in your legs, ankles and feet, have an intolerance to the heat or cold or if you don’t sweat at all, if your body is covered in small red spots, if you have gastrointestinal issues, migraines and unexplained strokes, then you should be tested for Fabry disease. Fortunately, some states are now testing infants after birth for Fabry disease. This was something I pushed for a couple of years ago when I was asked to be on The Advisory Board of Directors for those with Fabry Disease.I look forward to all states testing for this immediately after birth. It will save people from the suffering what I experienced as a child.”

4 Ways To Fight Fabry Disease

Summing up our time with Linda, we asked her to sum up her message about Fabry Disease and what she wants everyone to know in how we can all fight this rare disease. Linda wastes no time in her response.

  1.    AWARENESS of this rare disease.
  3.    EDUCATION about the disease.
  4.    For those with the disease to be courageous, to not give up and to take care of yourself.

Linda is on mission and we are humbled to be on this journey with her. Thank you, Linda, for speaking out and for leading with such courage. Because of you, so many lives are being impacted and being spared a lifetime void of answers. At PSI, we have no doubt that with every person you come alongside, or speak to at an event, a message is being sent to Fabry Disease and that is this, enough is enough.

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