Patients fight for acceptance of all disease-causing variants
After my diagnosis was finally confirmed – I was already 52 years old at the time – my husband and I dealt intensively with Morbus Fabry and also stay in contact with other affected people and the MFSH.e.V (Morbus Fabry patient organisation).
We got to know other pain patients. They either have the same variant as I have A143T or the D313Y.
Apparently, I was lucky to be one of the few to get therapy. Today we see how many patients with these variants do not receive the therapy, even though they have massive symptoms.
We are also shocked that at least one laboratory no longer reports these mutations. The consequence is that patients with a long doctor’s odyssey have absolutely no chance of finding out the real cause of their symptoms and continue to be treated psychosomatically, although there is a causal therapy.
Together with a friend with the D313Y variant, who has very similar symptoms and medical history as I do, we decided to create this website. In this way we want to make this problem visible and give those affected an opportunity to share their experiences with the world.
Above all, we want to point out that for us the quality of life with the therapy has drastically improved. And we wish the same for other affected persons!
I am infinitely grateful to my husband for his support, without his support this website would not have been possible!
On this website we would like to provide information about the rare disease Fabry from the perspective of patients who have variants (such as p.D313Y or p.A143T) which supposed to be not disease causing.
Here you will find information on the symptoms of the disease, misdiagnoses and differential diagnoses, the fate of individual patients, reports of success with the therapy and barriers that exist in the diagnosis and the access to therapy.
Together with another family and the MFSH e.V., we are in contact with doctors to draw attention to the grievances and in the hope that patients will not only receive therapy after an irreversible organ damage has already occurred.
Details on Fabry disease can be found here on our website or on Wikipedia
We would like explicitly to point out that we are neither doctors nor affiliated with pharmaceutical companies or similar. This information has been compiled to the best of our knowledge.