Very rare genetic disease

In a family of young healthy parents, in which one healthy baby was already growing up, they were waiting for the second child to appear. During pregnancy, the mother suffered several mild acute respiratory infections, and also accidentally (when she did not know about the pregnancy) was vaccinated against the flu. Doctors noted reduced motor activity of the fetus during pregnancy. The child was born small, with a small stature. Parents unequivocally associated these changes with vaccination during pregnancy. The child continued to develop with a large lag in motor development. Muscle tone was reduced. Doctors suspected the presence of myopathy (a genetic disease manifested by muscle weakness). The child was examined on a panel of genes for muscle diseases and a genetic disorder with unclear clinical significance was identified (it means that it was not clear whether this gene defect affects the development of this disease or not). Nevertheless, the diagnosis began to be considered refined by neurologists observing the child. As the child developed, it became clear that he was not only born with a small stature, but also did not make up for this gap with age: on the contrary, growth retardation became pronounced. Having learned that an extended genetic study could be carried out with the mediation of the foundation, the parents turned to a geneticist, who recommended the child for a genome-wide study to clarify the causes of growth retardation and a moderate delay in psychoverbal development, which did not fit into the previously diagnosed myopathy. When conducting a genome, it turned out that the child has a very rare genetic syndrome (frequency 1: 1,000,000 people in the population), the cause of which is two genetic breakdowns inherited by the child from both parents (one from each parent): a point breakdown of one nucleotide and a very a short (only 6 base pairs) doubling site in non-coding protein regions, but regarded by genetic analysis as unambiguously affecting the development of the disease. This genetic syndrome fully explained all the clinical manifestations of the disease in the child. Parents no longer considered the child's illness as a consequence of influenza vaccination, since an additional genetic study of the parents (Sanger validation) confirmed that genetic damage did not occur in this child for the first time, but was inherited from both parents.