PATIENTS AND FAMILIES Living With Fabry Disease

One Individual, One Story

Martynas’ story

Managing Invisible Symptoms

Journey to diagnosis

Martynas fondly recalls his early childhood in Lithuania as the best time of his life, before the fevers, aches and pain. Around the age of six, the fevers started, as did his stays in the hospital which sometimes lasted for many weeks. At first, the doctors attributed the fevers to common childhood illnesses like chicken pox or rubella. While other children went outside to play, Martynas remained at home because he was unable to move as much as his peers and his family (mostly his grandmother) worried about his health. He didn’t learn to climb a tree until he was in his teens.

During one week-long hospital stay Martynas’ mother was asked about the red dots, or angiokeratomas which are common in Fabry disease, on her eight-year-old son. His mother, a choir singer, understandably didn’t know the cause of the red dots and despite this potential sign of a systemic disease, the cause of Martynas’ illness remained unknown.

The burning sensation and pain started when Martynas entered his teens. He didn’t understand the cause of the burning sensation in his hands which sometimes started without any particular reason and felt like his extremities were over a fire. He remembers screaming and crying, and not being able to stand. Still, many doctors told him growth spurts caused the joint and bone pain.

As Martynas grew older, sick days and extended hospital stays made keeping up at school a challenge. He missed seven months of school in ninth grade and three months in tenth grade. During one of these hospital stays, the doctors alerted Martynas of his deteriorating kidney function and at the age of 15, Martynas learned that he might need dialysis eventually. When he turned 20, this nightmare became a reality.

Spending so much of his life in the hospital and seeing the important work of doctors and nurses, Martynas decided to become a doctor. Martynas pushed through the first year of medical school despite feeling tired all the time. To celebrate, he embarked on a train trip with friends through Greece and Italy. All of the walking and exploring took a toll, and Martynas soon realized he felt worse than he had in a while.

When he finally came home after this exhausting trip, he returned to medical school and then saw a doctor who ordered a blood test which showed that Martynas’ kidney function was deteriorating, and he needed to start hemodialysis right away. Luckily, he was put on the transplant list.

During each of his hospital stays, doctors searched for a diagnosis without success. Eventually an endocrinologist took an interest in his case and sent him to various specialists including a geneticist. Upon meeting Martynas, the geneticist said, “It might be Fabry disease,” and ordered a test to confirm. The test came back negative, but the geneticist stood by her suspicion and reordered the test. After 20 years, countless doctors and a second genetic test, Martynas finally received a diagnosis of Fabry disease.

It was a relief for me to get a Fabry diagnosis and to know what was happening to me. The most pleasant words from the doctor were, ‘There is a treatment.’

The wait for a kidney

Martynas started enzyme replacement therapy (ERT) at the same time he started dialysis. He recalls hemodialysis as a cumbersome process and struggled with headaches, nausea and vomiting. He waited for a kidney transplant.

Three times Martynas received calls from the hospital and was told to prepare for the kidney transplant. He finally underwent the procedure after the third call. On one occasion he ran to the hospital, stayed all night and even met another person waiting for the same kidney. Martynas finally heard the words, “This kidney is for you, you are going to have an operation tonight.” After the kidney transplant, the color returned to his face and Martynas felt better than ever.

Life beyond symptoms

A life-long learner, Martynas persevered through Fabry disease to earn both a medical degree and a law degree. Now, more than 10 years after the kidney transplant, Martynas remains on ERT and continues to experience Fabry symptoms. The fatigue makes it hard to find the energy to do even his favorite things such as reading or studying languages. He also gets what he calls the “Fabry fog,” difficulty concentrating or remembering simple things like what to do or where to go. The list of Fabry symptoms Martynas experiences including heart problems, shortness of breath, some hearing loss and GI issues is almost as long as the number of medications he takes each day.

Through all of this, Martynas maintains a positive attitude and won’t let anything, including Fabry, stop him: “I still travel, I still love to learn, I got used to Fabry.” He knows to take a break when he is tired, he distracts himself from the pain with an interesting book or language studies, and he eats small meals before he goes out to stave off GI issues.

Advocating for Fabry

Martynas advocates for Fabry disease to help improve the diagnosis and care of those affected. He encourages people to connect and share their experiences to help others understand what it is like to live with invisible symptoms, and for those with Fabry to know they are not alone and to share advice. In looking toward the future, Martynas looks forward to scientific advancements for Fabry and hopes one day there will be a cure.

Raising awareness for Fabry disease and helping people understand the ‘invisible’ devastating pain and fatigue is important so people with Fabry can receive better care.

AVROBIO

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