A rare disease

In a family from a remote region of Siberia, a child was born with joint stiffness, muscle weakness, impaired breathing, swallowing, seizures, and developmental delay. An MRI examination of the brain revealed changes. Parents are planning childbirth and would not like a repetition of a similar situation. The child underwent many studies, he went through a very long diagnostic search: 2 genetic tests and 3 special biochemical tests that can indicate various genetic diseases. All analyzes did not answer the question of the cause of the disease. Geneticist recommended the study of the genome. The research was funded by the foundation. The result showed that the cause of the child's illness was a breakdown of a very rarely affected gene (the incidence of such a disease is 1: 1,000,000), and it is surprising that the breakdown did not occur for the first time in the child, but was inherited: two broken halfs of the gene "came" from each of the parents... That is, both parents are asymptomatic carriers of this EXTREMELY rare disease. Parents were given the opportunity to conduct prenatal diagnostics and give birth to a healthy child