Little Emir’s journey of hope from France to Turkey… Holding on to life with a liver given by his aunt’s French friend…

1-year-old Emir was taken to the hospital by his family in France, the country where he lived, due to his complaints that developed after feeding. He was given a diet program along with medical treatment. However, doctors stated that the transplant necessary for radical treatment cannot be performed in France.

⠀ As the complaints continued to increase, he came to Turkey from France. We diagnosed the little Emir, as a result of our detailed examinations, with “urea cycle disorder” which is a rare genetic disorder. ❗Urea cycle disorder is not recognized in the early period. Clinical findings start to appear only when the patient is 1-year-old. In children, tremors and stereotypical movements may occur in the hands and/or feet, findings related to the nervous system after feeding. It may present with nausea, vomiting, drowsiness, and sometimes severe coma. The problem is that as a result of the enzyme deficiency in the liver, ammonia cannot be metabolized. In this case, the liver cannot clear ammonia from the blood and the ammonia level in the blood rises. If it is not noticed or treated in the long term, nervous system disorders may occur due to the side effects of ammonia on the nervous system. In the treatment of the disease, liver transplantation is required when end-stage liver failure is present, at an ammonia level that cannot be controlled by medication, diet and dialysis. As a result of liver failure that developed in Emir, we decided that liver transplantation was the only option for treatment. Receiving liver from family members was risky because they were carriers of the disease as well. The one who lit the light of hope was the French friend of the little Emir’s aunt. As a result of the examinations, we found that she was suitable for transplantation and started the transplantation process. After the successful transplant operation, Emir’s enzyme deficiency was treated and Emir completed his recovery process.