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A mother’s quest to find a cure for her son

Mariann Vegh's son Erik has Asparagine synthetase deficiency (ASNSD) - a rare, neurometabolic disease that has no treatment. Mariann and her husband refused to give up and are now the driving force behind a major research effort to find a cure.

As pharmaceutical companies turn a blind eye to rare diseases because of the low potential return on investment, parents of children with rare diseases are taking matters into their own hands. This is the story of one of those parents – Mariann Vegh and her son Erik.

Inspired by the story of a little girl in the United States, Mila, and the drug MilasenExternal link developed specifically for her, Mariann and her husband Balazs created the ASNSD Research Association to fund and coordinate research into the disease. The Switzerland-based association is now bringing other families of children with ASNSD together from around the world, fundraising for research, and advancing drug development.

In this short film,External link Swissinfo takes an intimate look into Mariann’s day-to-day life, the struggles of caring for a child with a rare disease, and what gives her hope that one day there will be a treatment for ASNSD.

Sub-edited by sb

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