Rambam diagnoses Afghani girl with rare disease

Hospital is one of few places which can identify LAD, a rare genetic disorder affecting only 90 people worldwide.

ambulance arrives 298 (photo credit: Channel 10)
ambulance arrives 298
(photo credit: Channel 10)
Haifa's Rambam Medical Center has diagnosed a girl in Kabul, Afghanistan, with a rare genetic disorder found in only 90 people around the world. An American doctor in Kabul, who met the girl, suspected that she had a rare genetic disorder called LAD, but he could not confirm the diagnosis, as such testing is not available either in Afghanistan or the United States. The doctor contacted Prof. Amos Etzioni, director of the Meyer Children's Hospital at Rambam, after having read some of his published scientific articles. Rambam is regarded as a leading hospital in the identification of such diseases. A few days ago, a blood sample was taken from the girl and sent, via France, to Israel. The results, which were ready at Rambam within a few hours, confirmed that the girl has LAD. It is not known yet where she will undergo her stem cell transplant. Patients with the disease have some 95,000 white blood cells that are unable to leave the blood vessels and thus cannot protect the body from infections. Most victims die by the age of two or three. A bone-marrow transplant could save them. Three Israelis have been diagnosed with LAD.