Ni, 14, visited a series of doctors after strange lumps began appearing all over her body and her appearance became gaunt and frail.
After several examinations she visited specialists at Tongji Hospital in Shanghai where tests showed she was suffering from the genetic mutation.
Despite the depressing prognosis Ni and her family have been given hope after experts at the hospital said they believed it was possible to slow down the effect of the rare disease.
Dr Zhang Keqin said: “At present her condition is not very serious and we have prescribed medicine for her. We will see how that goes over the next 6 months and will review it based on the way her body reacts.
“Patients usually die in their 40s when they can no longer breathe because of the pressure on their lungs.”
