In Germany, the controversy over the “controversial” variants of Fabry disease (a multi-organ disorder) has escalated further. Once again, some patients have had their therapy withdrawn. They had been in treatment for many years and felt a marked improvement in their symptoms. The focus was on devastating pain that could not be managed with standard pain therapy. Children also stopped treatment, although they clearly benefited from it. One child has been treated since the age of 4 and over a period of 7 years. Another child is now about to graduate from high school. Patients whose genetic defect was diagnosed in a stroke are also affected.
The first patients whose treatment was discontinued are already showing worsening symptoms. They are now in despair because they have experienced that the therapy has significantly improved their symptoms and because they now see no possibility of continuing to receive therapy. Parents are faced with the insurmountable task of explaining to their children why they are no longer receiving therapy.
Many of those affected can no longer imagine a life without the therapy and express this clearly. Some have already joined an euthanasia organization.
Patients who are still receiving therapy live with the constant fear that their therapy will also be terminated and have to helplessly watch others being taken off therapy or not receiving it at all.
The fact that these “controversial” variants do not make people ill is repeatedly claimed by various scientists, and there is also talk of a placebo effect. However, there are also other scientists who have proven a pathogenic effect of the variants. Because the experts are not in agreement, the discussion is now being carried out on the backs of the patients.
There is no question that the therapy helps, the drugs have a targeted effect only on Fabry, there is no known random effect in other diseases.
The claim that these “controversial” GLA gene variants do not cause Fabry is simply wrong! On the other hand, we can prove all our statements.