Lisa’s Story: What Kept This Fabry Patient Going?

Dec 20, 2018 | Patient Blog

At the age of 49, Lisa’s lifelong mystery had finally been solved. It was just 10 months earlier that her twin sister was diagnosed with the very same rare disease. And although the discovery has brought closure to so many unanswered questions, it has also led to a thousand more.

“By the time I was diagnosed with Fabry, the symptoms were bad. It affected my heart and nerves. I couldn’t imagine how I was going to care for my children and myself. I didn’t want them to experience the constant pain and discomfort I had felt all my life.” Lisa tells us as she recalls when she was first diagnosed.

Fabry is a rare genetic disorder caused by a defective gene (the GLA gene) in the body. In most cases, the defect in the gene causes a deficient quantity of the enzyme alpha-galactosidase A. This results in a buildup of a particular type of fat, called globotriaosylceramide, in the body’s cells.

There is no cure for Fabry and treatment, well, that led to another question. At roughly $200,000 a month for infusions, how could anybody begin to afford it? We asked Lisa about her treatment, what it does, and how she faced the enormity of it all.

“I get an enzyme replacement treatment at home now thanks to PSI. The purpose of ERT is to replace the enzyme that I cannot make on my own. The enzyme is infused into the vein by IV every other week and is taken up by the cells. Once it enters the cells, the enzyme can remove the stored GL3 and improve cellular function. This should stop GL3 from building up and hopefully stop or slow the progression of the disease symptoms and health problems.” Lisa explains.

After diagnosis, but before treatment was a test of faith for Lisa and her family. When they had found out about the cost of the infusions, they wondered what they were going to do and why it was so expensive. Lisa tells us what happened next, “After my diagnosis and once I agreed to treatment, I was assigned to a case manager who told me about PSI and the assistance I could get since I was not working. Before I learned about PSI, I thought I would just die from this disease. I could not afford the $200,000 a month for infusions.”

Taking a moment to look back at life through the lens of unanswered questions, Lisa reflects on what it was like growing up while not knowing what was going on with her.

“It was lonely, confusing, isolated, frustrating and restricted. I did not understand why I felt so bad and nobody knew what was wrong. Why gym activities, playing outside, skating or simply going for a walk on a nice summer day were so difficult for me? I missed out on a lot of things during my childhood due to the pain and fainting.”

And yet, it wouldn’t be until the age of 49 when Lisa would get her answer. What kept her going? One could only imagine the amount of times anyone suffering such plight would want to give up and throw in the towel. We asked Lisa what kept her going.

“Having a rare disease is physically, emotionally and mentally draining. Many times before the diagnoses I felt like what’s the use. I needed the pain to stop. No one knew what was wrong with me so it made me feel like I was crazy. I kept going because I had trust that God would not put more on me than I can bear. It wasn’t fair for me to give up on my family so I had to fight.”

Stop for a moment.

Re-read that quote for perspective.

[Insert your current situation here.]

Continue reading.

In April of 2015, Lisa was finally diagnosed with Fabry. We asked Lisa what that day was like when she received the news.

“My twin sister was diagnosed 10 months before and told me I should get tested since I was having issues with my blood pressure and heart for years. I was reluctant at first because our symptoms were different and I did not clearly understand at the time that it was a genetic disease. I had mixed emotions that day. I was relieved to have a answer, the mystery was finally solved after 49 years but I was also sad and angry. The test was done by the geneticist. My PCP then called me one day and asked me to come in immediately, when I arrived, she gave me the results even though she didn’t know about the disease.”

With Lisa’s twin sister Linda having been previously diagnosed with Fabry, the effect this rare disease has had on their entire family both before and after diagnosis has been significant. When Linda was diagnosed she had learned that she was not alone. Many in their family had too, been diagnosed with Fabry. Matter of fact, there were already nine cousins living with the disease.

For Lisa, her Fabry diagnosis has helped her to be more understanding as to what each of her siblings were experiencing. Fabry had affected each of them differently. Yet, they all feared how the late diagnosis would affect them.

Lisa, now armed with tools, resources, and knowledge, along with treatment to help face her Fabry diagnosis, loves to share with others that which she has learned. We asked Lisa what she would say to someone that had been recently diagnosed with Fabry, “That it is a scary invisible disease but they are not invisible or alone.There is hope, help, support, treatment and others who understand. Educate yourself about the disease so you can be your own advocate. Take care of yourself physically and emotionally and advise family members to get tested and get treatment early.”

Lisa has so much wisdom to share with others. And we have so much we can learn from Lisa about that which is truly important in life. In closing, Lisa shared three pieces of advice with us about what’s really important in life.

  1. Health, take care of yourself and your health.
  2. Don’t give up. Even if discouraged keep pursuing one step at a time.
  3. Be supportive. Everybody needs support, there are many things in life that are hard to battle alone.

At PSI, we are honored to be walking the road with both Lisa and her twin sister Linda and so many others like them. We are better because of them in our lives. And the world, is that much brighter, too.

Thank you to Lisa for sharing your story with us. If you want to know what you can do to help support the Fabry community, Lisa offered this advice:

“Raise awareness and donate. This is a genetic disease that affects families. In my case we all have Fabry and no one in my family is working. Myself, mother and all my siblings all have the disease. We all were diagnosed late in life so went decades without treatment. All of us are not on disability so it becomes challenging trying to help each other when nobody is able to work.”

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