Why does the Valeria Association exist?
Valeria Schenkel was born on 14 February 2018. A few days after her birth, the little girl suffered her first epileptic seizure. The resulting diagnosis is devastating. Due to a de novo mutation on the KCNT1 gene, Valeria would be denied any cognitive or motor development in her life. Since then several seizures occured daily and Valeria suffered every day. Valeria's parents, Alexandra and Mario Schenkel, did not put their head in the sand and fought for their daughter. Together with Yale School of Medicine and neurogeneticsts from Harvard Medical School (Boston Children's Hospital), they have set up a program that corrects the new mutation on the KCNT1 gene and stop its fatal effects. An Antisense Oligonucleotide named after Valeria - "Valeriasen" was first administered in September 2020. Valeria's seizures declined drastically but unfortunately Valeria lost her fight against her devastating disease in September 2021. Valeria has achieved many things in her short life. She has demonstrated, that drugs for orphan diseases can be developed in record time. Dosed correctly and given to other children with proper precautions and regular monitoring, Valeriasen is a promising drug. Other children are already being treated with it. Valeria has paid a very high price, but in return she has brought science a decisive step forward. Thanks to her fight for a chance in life, many children with a rare disease will be able to live a normal life.
Alexandra and Mario Schenkel learned a lot about genetic diseases, treatment options and were able to establish many important contacts to specialists who are willing to develop therapies for the treatment of ultra rare diseases. They want to use these relationships and this knowledge to help other children as well. However, one can only do this with your financial support. Do YOU also help?