…for 10 years in the Fabry Center, without therapy!
How do you begin to talk about yourself when you want to say to other affected people or relatives that we are not alone out there in life!
My memory is shaped by hospital stays from my earliest childhood. It still has an effect today, hospitals and everything that has to do with it – it’s terrible. And as it is, if you want to avoid everything with it, then it comes all the more. If I manage a year without a clinic – I am happy and I hope that the same will be the case next year. And why, why do you keep getting sick all of a sudden and so sick that you have to go to the hospital after all. A setback every time.
The glimmer of hope grew with a fax from the clinic. A surprise, negative, but also an eventual explanation for everything. Suspected Fabry disease. All the symptoms would point to it. And the long, arduous journey. Should the solution to the many symptoms now be within reach?
The answer, GLA defect D313Y. Quote from the gene laboratory: most likely no evidence of Fabry disease. An answer that isn’t an answer.
What particularly annoys me about this endless topic, the frequent replies:
- We don’t treat values!
- That can’t be!
- Everyone has it, no problem!
The next tip from a professor, D313Y is not Fabry disease, but I should drink a bottle of beer every evening to combat the poor kidney values!
Or I should limit my consumption of diclofenac, with a monthly ration – if at all – of two tablets! At that point, the eGFR was 61. Thanks for the tip. This has to be pointed out to someone.
Cardiac arrhythmias come from being unsportsmanlike. – Aha.
A report says: Patient claims to have dizzy spells! No investigation, although it would have been so easy. Another clinic was able to prove the cause of the dizzy spells with an examination, that both nerves are damaged. In the meantime, the vestibular nerve has completely disappeared on both sides.
Getting through this discussion is only possible if you have a good level of self-confidence. Knowing what is going well and how to plan your day to live well with that what you (NOT) have. Although I keep trying to push these boundaries, I haven’t succeeded so far.
Dare to write because it can help those who are affected and to know:
You are not alone with all the symptoms and effects. There are so many and they are well known.
A special thanks to those who created this site to encourage others and not despair because there are symptom twins on the other side of the computer!
My age (57 years), that I managed with all the complications which I would have liked to have done without.
My thanks also go to the entire medical environment, which is countering strong headwinds. There are also those…….and we and I are very grateful for them!