Forgotten No More: My Fabry Diagnosis

Jul 5, 2018 | Patient Blog

“However, the most disturbing thing was that Fabry was discovered by a German physicist more than a hundred years ago. In my mind, I could not accept that how something so important could be forgotten.”

Imagine living your life battling an unknown illness, yet all along, it had already been discovered nearly a century prior? PSI patient Jose spent years seeking answers with his family, but it wasn’t until he received a call from his younger brother telling him to look up a rare disease named Fabry.

But before we hear more from Jose and his story, let’s find out a little more about this disease that was discovered in 1889 that affects an estimated 1 in 117,000 people.

What is Fabry Disease?

Fabry disease, which is also called alpha-galactosidase-A deficiency, is a lysosomal storage disorder which is a part of a family of hereditary diseases that affect the way specific (and critically important) chemicals are processed in the body.

This inherited disorder is the result of a lack of enzymes, which are needed to process lipids. When these lipids are not metabolized, the mutated gene causes them to build up to dangerous levels within the autonomic nervous system. This is critical as the ANS affects functions such as digesting and breathing as well as the cardiovascular system, eyes, and kidneys.

According to the NIH, symptoms generally appear in childhood or adolescence and can include:

• burning sensations in the arms and legs that gets worse with exercise and hot weather,
• small, non-cancerous, raised reddish-purple blemishes on the skin,
• clouding in the corneas,
• impaired blood circulation and increased risk of heart attack or stroke,
• enlarged heart,
• kidneys may become progressively impaired, leading to renal failure, and
• decreased sweating, fever, and gastrointestinal difficulties.

Symptoms generally will appear in childhood, however, Fabry disease may go unrecognized until adulthood when organ system damage has already taken place.

Is There a Cure Or Treatment For Fabry?

There is no known cure for Fabry. However, doctors may recommend enzyme replacement therapy(ERT), which is the only FDA-approved treatment for Fabry. ERT works by replacing the enzyme that is either not working correctly or missing which will then allow the body to break down those lipids, or fatty substances, the way they should.

Forgotten No More: Jose’s Fabry Diagnosis

In his own words, PSI patient Jose shares his journey,

“Since I was six years old I started to suffer an abundant amount of pain in various parts of my body, like my hands, feet, my skeletal system and my blood was feeling very hot. It was a like a burning sensation all over my body. My family was very worried about the situation and we visited many doctors but no one gave us any answers and even some of them insisted that we were inventing such situations.

It was until about ten years ago that a younger brother who has the same condition called and said to me, “Go to your computer and look under this name, Fabry” So I did and I was amazed that the condition that we were looking for in those many years with so many doctors, was there by the name of Fabry. It exactly reported the same symptoms which we were describing to so many doctors.”

Since Diagnosis, What Jose Learned

Jose continues with sharing what he has learned about Fabry since his diagnosis,

“Now let me tell the little that I know about Fabry. This is a hereditary condition that causes a lot of pain and in addition destroys internal organs like the kidneys, the hearing system, the digestive system, the heart and brings many neurological problems. Until now there is not cure for the disease, but the treatment helps to stop the advancement of damage of organs and also helps to lessen the pain.

Since September of last year (2017) I started a treatment which is very expensive; therefore, my insurance does not cover the full amount and I am responsible for the other part, but since I am a retired person and solely live on my Social Security benefits, I am unable to cover that expense.”

What Does It Cost to Treat Fabry?

Treatment for Fabry disease via an ERT can cost upwards of $200,000 per patient. Again, there is no cure for Fabry, but it can improve metabolism which can help prevent disease progressions. In some cases, can even reverse some symptoms. Other types of treatment focus on treating various complications that can arise from Fabry disease such as cardiovascular, hearing loss, skin symptoms, renal and gastrointestinal problems.

Fabry disease is progressive and can be life threatening. With no cure, it is critical for the patient to have access to treatment. But, at $200,000 per patient, is there any hope?

Jose Meets PSI: Together They Fight Fabry

As the nation’s first patient assistance charity, the Patient Services, Inc., mission is to help chronically ill patients with unaffordable medical expenses. In 2017 alone, PSI assistance reduced spending in Medicare by generating $33.9 million in net federal Medicare savings. Since 2013, that figure increases to $146 million in Medicare savings.

For Jose, this means hope,

“That is where PSI comes in to assist me to cover the payment that I otherwise would not be able to make, and in doing so avoids halting the treatment that I am currently receiving.”

Have You Been Diagnosed with Fabry Disease?

If you or someone you know has been diagnosed with Fabry disease, we want you to know that you are not forgotten. You can learn more about how PSI and what we do by visiting our patients page and read about the various programs available for Fabry based on your insurance type.

Do You Have a Fabry Story?

PSI is looking for stories from others who have been diagnosed with Fabry disease. If you would like to share your story with us, and in by doing so, help others, you can send us your story by email to [email protected].

DYK That Health Care Charities (Like PSI) Are Under Threat?

You can learn more about why health care charities like PSI are under threat as well as what you can do by visiting our #LetCharitiesBeCharitable action page on our website here.

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