Welcome to Rare RareDiseases Patient
Morbus Fabry
My Fabry Story
Interviewed by D.K. from Rarediseases+lensmagic1974
A surprising diagnostic – how quickly a life can change!
Sebastian M. is 51 years old and originally comes from Münster, Westphalia. In the meantime, he lives in a small town between Mainz and Bingen, thus enjoying the Rheinhessen landscape. Sebastian worked in nursing for a long time. After his training at the Wiesbaden Horst-Schmidt Clinic, he moved into various areas and worked in the operating room for over eight years. After the hospital provider changed, his entire department was dissolved, and he transferred to the Mainz University Medical Center. There, he cared for patients on a geriatric ward. His big hobby is geocaching, in which one goes on a (treasure) hunt using GPS data. Not only is his dog a loyal companion, but his youngest son also enjoys it. Additionally, Sebastian loves cycling and thus spends a lot of time outdoors in nature. Overall, Sebastian has three children, but currently lives alone. His relationship with his children is really good, and the youngest is with him every day.
D.K. How long have you had the Fabry diagnosis?
Not for a very long time, only since 2021, although i had been searching for a long time.
D.K What was your diagnostic journey like?
In 2018 i was diagnosed my first chronic illness, pulmonary emphysema. The upper lobes of my lungs on both the left and right side are affected, which impairs my breathing. In 2021 my pulmonogolist referred me to a thoracic surgeon because i constantly suffered from shortness of breath. Asd i knew the team in Frankfurt through my work, i contacted them. During bronchoscopy the pulmonary emphysema became visible. Nevertheless, the doctors was unable to adequately explain my shortness of breath and ordered an exercise ECG. This revealed numerous extrasystoles. A cardic catheter eaxamination was suggested.
D.K. What was the outcome?
I first wanted a second opinion and contacted the electrophysiology department at Mainz Medical Center. However, under the prescribed beta blocker my condition worsened significantly. At times my heart rate dropped to 39, wich was fat too low. Genetic testing was therefor performed. There was suspicion of a cardiac disease that might require a defibrillator. Instead, Morbus Fabry was diagnosed.
D.K. How did you feel about the diagnosis?
That was quite overwhelming at first. I had already come to terms with the idea i might need a defibrillator, wich was not pleasend either. But what was revealed to ma during that conversation was somehow much harder. I had to process that first.
D.K. Did you have other symptoms beside your heart problems?
In retrospect, yes. As a child i had many stomach problems, even gastric ulcers, and therefor frequent gastroscopies. Later, numb toes developed. I often had pain in the soles of my feet. I could barely crawl, but it was always said to be plantar fasciitis. Today i do believe these were Fabry symtoms. A skin biospy later confirmed small fiber neurophaty.
D.K. Did you consult many other doctors because of the pain?
No, because i somehow got used to the pain in my feet and rather tried to cope with it better. That was one reason why i switched to working in the operating room – i thought you wouldn´t have to walk so many kilometers there. Later pain in my fingers developed, which i also tried to ingnore.
D.K. Were you able to start therapy after diagnosis?
I was referred to Villa Metabolica in Mainz. I had to wait for this appointment and in the meantime consulted Dr. Google. That was not a good idea, as there was a lot of bad information. In the meantime, i have been in therapy for quite some time. The thearpy has significantly improved my heard pain, which i had suffered from for a long time. For that i am truly grateful. The other pain is still there.
D.K. Has the diagnosis changed your life?
Yes, definitely. I stopped trying to please everyone and learned to perceive my body and listen to it. I had always tried to ignore everything and continued working full-time despite all problems. That cost me a lot of strenght. Even thought i treid to be continue as before, i realized that it no longer worked that way. What affected me the most was that i had also passed this to my daugther.
D.K. How is your daugther today?
She is doing very well. She has her annual chek-ups. Fabry was detected in her heart, but she does not yet need therapy.
D.K. Which therapy did you choose?
I receive enzyme replacement therapy at the center in Mainz. Home therapy was also offered to me, but i did not want that. The team is very kind and i always appreciate the exchange. If i hade a question, i can ask at any time. That is importtant to me. I tolerate the infusion very well.
D.K. What would you recommend to other Fabry patients?
Listen to your own body and do more for yourself. That is certainly not selfisishness; it is what you keeps you healthy. Find hobbies and friends, became aware of the beautiful things, and never bury your head in the sand. Life goes on with Fabry as well, even if it is not always easy.
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