We would also prefer the treatment with a Fabry-specific therapy by physicians!
Due to the distress created by the discontinuation of therapy by Fabry specialists in some Fabry patients with GVUS, some patients self-treat with D+galactose. Fabrienne explains possible risks and benefits of Fabry treatment with galactose in her video.
We were at the Patient Academy in Bad Salzschlirf. Berthold Wilden (1st chairman of the MFSH) explained the topic of the “controversial” variants well and we then presented our statement from the patient’s point of view. Our statement is linked here.
In general, this topic was a big topic of conversation among the patients during the break, no one can understand the attitude and actions of the doctors. Now, however, many know about the topic and have backed us with a lot of encouragement that we should absolutely continue to fight. Many thanks for that.
It was also very nice for us to see many familiar faces again, we were very pleased.
An artist friend of ours provided us with a great picture that illustrates our theme very well:
image: Ralph Turnheim, www.leinwandlyrik.de
Image text: we do not extinguish further until the cause of the fire has been completely clarified
A new website for Fabry patients and interested parties is online. There Fabry is explained in video in the simplest possible words. How does the disease etc. is explained in short videos piece by piece, the first videos are available, more will follow very soon.
Wir veröffentlichen hier Text und Link eines befreundeten Künstlers, der für eine Patientin kämpft und ihr (auch in unserem Sinne) mit allen Mitteln helfen will:
Eine enge Freundin von mir leidet an einer schlimmen, seltenen Erbkrankheit. Vor zwei Wochen hat ihr die Ärztin mitgeteilt, ihr das lebensnotwendige Medikament nicht mehr zu verschreiben. Die Geschichte ist so herzzerreißend wie absurd. In einem Podcast gehen wir dieser Geschichte nach. Hier ist die erste Folge – solange Carmen kann (sie hat noch eine letzte “Ladung” Medikamente bekommen, dann ist Schluss), wollen wir jede Woche eine weitere machen. Gebt mir gerne Feedback bzw. eure Fragen – wir gehen gern darauf ein. Sie freut sich über die Aufmerksamkeit, denn es sind viele andere betroffen. Danke!
In Gießen and Hamburg, patients with variant D313Y were informed by phone or by mail that they will no longer receive therapy with immediate effect. It is no longer Fabry. The patients also developed health problems relatively quickly after the end of treatment, one patient was already in the emergency room….
We have been fighting for a long time for the recognition of the “controversial” variants, but that now successful therapies are discontinued is the worst thing that could happen.
IMPORTANT for all who have been genetically tested for Fabry disease in the last years! The laboratory findings may be incomplete and it could be that a variant is present but not reported.
Only pathogenic/disease causing variants are still reported in the findings!
The arbitrary classification of variants as benign/ benign by the laboratories means that they are no longer reported. The report only states:
NEGATIVE FINDING No clinically relevant variant was detected or No pathogenic variant found
It is not possible to determine an exact date for this procedure, as some laboratories were already practicing this before the GEKO decision. Here, the tests offered free of charge by the pharmaceutical industry stood out in a particularly negative way.
Background: The German Genetic Diagnostics Commission has decided that laboratories should only report disease-causing and probably disease-causing variants in their findings. Variants of unclear significance may be mentioned in the findings. Benign and probably benign variants should no longer be reported.
There are five classifications regarding the pathogenicity of mutations/variants:
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.