An exact diagnosis is the basis for an optimal treatment. Here is a case from our daily work where exome diagnostics saved a little girl’s life.
Our patient had shown signs of severe illness at an early age. Her parents sought medical assistance when she was about six months old. Examining the baby, the physicians identified a bone marrow developmental defect. But the reasons for the deficiency remained unclear. However, the physicians knew that time was precious, since the little girl‘s older brother already died at the age of seven months, displaying similar symptoms. Facing this, the only option the physicians had was to prepare for bone marrow transplantation. The surgery posed a high risk for the girl‘s life because survival rates for this type of procedure for a baby are far from good, at around 50 %. But the physicians also knew that if two siblings show such similar symptoms, there had to be a genetic cause.