A healthy girl was born into a family. In the maternity hospital, the baby underwent neonatal screening, which revealed the presence of cystic fibrosis. However, a further study of the gene for cystic fibrosis did not confirm the diagnosis. At the age of 2.5, first signs of epilepsy appeared accompanied by gastrointestinal disorders. Doctors suggested a hereditary metabolic disease, the parents were afraid to give birth to a second child. The family turned to Charity Fund Life Genome for help. With the Foundation support the child underwent a full genome sequencing, which revealed the presence of two separate genetic diseases, both are not severe and curable. The treatment will allow the child to have a normal life and feel healthy, and the parents will have healthy babies in the future.

Back to page
Want to help