A Message from Sara’s Mother

Hello Friends and Families
We are an affected family from Switzerland (DE). Exactly 4 years ago – in December 2014 – we have learned that our youngest daughter Sara suffers from the very rare metabolic disease GM1 gangliosidosis (Type I to II).
When the disease was diagnosed, the doctors told us that it is incurable.
For me as a mother it was the shock of my life. I have suffered a lot of mental health for many months. My career has been shelved and our entire family life has gone out of control. The research team in Zurich then gave us the symptomatic treatment option with the medicament Miglustat (Zavesca) and the ketogenic diet, so that Sara’s health can be stabilized with the prospect of a possible cure with gene therapy that could be done.
Miglustat acts as a chaperone and increases the enzyme activity. Due to the rare and poorly understood disease, the drug miglustat is not yet approved for GM1. The approval is the most important requirement for an uncomplicated and fast payment in insurance. So far, only one approval for M. Gaucher exists. Gaucher and GM1 are both gangliosidoses. The effect of the drug is identical for both diseases. Due to the lack of funding and approval, we had to stop the treatment.
Sara’s condition is worsening day by day – we do not give up hope and thank Cure GM1 and the group for their activity and fight against the disease. I follow the progress from the beginning. Thank you from my heart <3