A rare set of circumstances

A family from the Moscow region applied. There are two sisters in the family with a difference in age of about 10 years. From birth, the older girl suffered from underweight and short stature; at the age of 3, she was first diagnosed with a severe disease in both eyes, which led to many surgical interventions by the age of 5. By school age, the girl fully entered the normative indicators for height and weight. At present, the child is 13 years old. She has a permanent visual impairment, and is growing and gaining weight normally.

The youngest girl is now 3 years old. She has also been underweight and short stature since birth. But the severity of violations is greater than that of the older sister. Parents are very afraid that in the nearest future she will have eye disorders, which led to many problems in the older child.

Both girls underwent a genetic study for the presence of major genetic damage. Pathological changes were not revealed. It was recommended by the geneticist of the federal center to conduct a study of the genome in the quadro format (mother, father, two daughters). Parents applied to the fund, because the family is not able to pay for such a study.

According to the results of the study, it turned out that both parents are healthy carriers of two diseases: one that occurs with eye damage, and the other with a pronounced decrease in physical development indicators (height and weight). The eldest girl inherited from each of her parents a broken eye disorder gene, while she did not inherit the broken genes that lead to short stature and weight. And the youngest girl inherited from both parents the breakdown of the gene for reducing physical development, but she will not have eye disease.

The family plans to have children and information about the carriage of diseases in parents is important for the possibility of having a healthy child.