MFSH also informs about VUS

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The MFSH also provides information on variants of uncertain significance.

Read also the page about VUS at the MFSH. There are several informations available:

  • Statement of the MFSH regarding reclassification of GLA variants as “benign” or “neutral” (April 2023)
  • Help for affected patients
  • MFSH presentation on the variant D313Y
  • Classification of variants
  • Links on the topic

Behandlungsabbruch bei Morbus Fabry: Beitrag im ZDF

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Das ZDF hat über das Problem der Neueinstufung von Varianten und dem daraus erfolgten Behandlungsabbruch berichtet. Eine Patientin aus Hamburg berichtet über die Erfahrungen. Auch Ihre Hausärztin und der Vorsitzende der MFSH kommen zu Wort. Unbedingt ansehenswert!

Anzusehen in der ZDF MEdiathek:

https://www.zdf.de/gesellschaft/volle-kanne/volle-kanne—mit-alice-merton-vom-14-august-2023-100.html

ab 38 Min, 27Sek (38:27), Manuell “vorspulen”

Steht ab  jetzt für 2 Jahre (bis August 2025) zur Verfügung!

The treatment of Fabry disease with D+galactose

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This is not a medical recommendation!


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.

Cited studies:

Okumiya T, Ishii S, Takenaka T, Kase R, Kamei S, Sakuraba H, Suzuki Y.Galactose stabilizes various missense mutants of alpha-galactosidase in Fabry disease. Biochem Biophys Res Commun. 1995 Sep 25;214(3):1219-24. doi: 10.1006/bbrc.1995.2416. PMID: 7575533.

Frustaci A, Chimenti C, Ricci R, Natale L, Russo MA, Pieroni M, Eng CM, Desnick RJ. Improvement in cardiac function in the cardiac variant of Fabry’s disease with galactose-infusion therapy. N Engl J Med. 2001 Jul 5;345(1):25-32. doi: 10.1056/NEJM200107053450104. PMID: 11439944.

Addition: new video from Fabrienne: https://youtu.be/z4aCRBLwPrY

MFSH Patient Academy 2023, Bad Salzschlirf, Germany, Topic D313Y and other “controversial” variants

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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