Roman’s Fabry Disease Story

Roman first began noticing something was wrong in primary school when, while playing football with his friends, he felt a burning pain in his hands and feet. But, because his mother and brothers experienced the same symptoms, Roman thought these were normal things everyone experienced.

All in the Family

The symptoms persisted and, over the years, Roman spoke with various doctors about how he was feeling. Medical exams and tests were run and he was given diagnosis after diagnosis. But, no matter what he did, things still didn’t seem right. It wasn’t until his mother’s cousin and sons were diagnosed with a rare disease called Fabry disease, that he finally received the correct diagnosis. Roman, his mother, and four of his five siblings were tested. Results confirmed they all have Fabry disease.

Image of Roman, Fabry disease patient 

What is Fabry Disease?

Fabry disease is an inherited disorder caused by a defective gene. A person who inherits this gene is unable to produce an enzyme called alpha-galactosidase A (pronounced al-fa-ga-lak-toe-si-daze a, and commonly referred to as alpha-GAL) in amounts needed to do the job it is supposed to do.

Most of the symptoms of Fabry disease can be attributed to GL-3 accumulation and the resulting damage to body tissues. It is important to remember that the symptoms of Fabry disease are variable, and not everyone will experience the same symptoms.

Affecting Change

As an adult, in 2002, Roman was relieved to finally meet more people who were dealing with the complications that come from living with Fabry disease. Determined to create something positive out of his diagnosis, Roman founded the Polish Association for Families Affected by Fabry with the goal of offering support and information for Fabry patients and their families while also raising awareness of this rare disease for those who have never heard of Fabry.

In 2012, the Association won a Patient Advocacy Leadership (PAL) Award for its “Where is Fabry?” campaign, which was produced in conjunction with the National Forum for the Treatment of Rare Diseases.

The “Where is Fabry?” project sought to improve public awareness and understanding of Fabry disease by using Facebook and other social media to help educate about this rarely known disease. Today, the Association brings together more than 60 members. And, although the association has not yet reached its goal of achieving reimbursement in Poland, Roman is hopeful that through their continued efforts, the members of the association can make a difference.

Sanofi Genzyme Humanitarian Program

In its more than 25-year history, our Humanitarian program has provided free drugs to more than 2,500 patients in 80 countries. Today, there are more than 700 patients in 60 countries - across six continents - receiving free enzyme replacement therapies (ERT) for one of the five lysosomal storage disorders that we treat: Gaucher disease, Fabry disease, MPS I, MPS II (available outside the U.S. in Sanofi Genzyme’s responsible territory), and Pompe disease.

Roman is one of those patients.

Roman is just one of the more than 1,000 Fabry patients who have gained access to treatment since our Humanitarian program began assisting Fabry patients in 2003. Adding 70 new Fabry patients in 2017, the program currently helps more than 100 Fabry patients in more than 20 countries.

Our commitment to patients is strong. With some patients in our Humanitarian program for 10+ years, we remain dedicated to providing this support as our local teams continue to collaborate with patient associations and local governments to help build a sustainable treatment environment for rare disease patients.

Learn more about our Humanitarian program.

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