A group of scientists from the Faculty of Medicine of Ege University in the western Turkish province of Izmir takes pride in solving the mystery of a patient’s disease and declaring it a new disease previously unknown to the medical community.
A 24-year-old patient identified as B.Y. has battled a disease that went undiagnosed for 19 years. She was first taken to a hospital for an examination when she was 5 years old with complaints of cramps in her toes and fingers, twitches in her arms and legs, severely dry skin and severe pain. A product of consanguineous marriage, B.Y. initially underwent treatment for what doctors thought was a rheumatic disease but she could not be cured. Later on, she started suffering from heart and meniscus problems. Doctors at Ege University started treating her when she was taken to the children’s hospital at the university when she was 11 years old.
Running tests on B.Y. and consulting with colleagues in Türkiye and abroad, scientists suspected a previously unknown disease was affecting the patient. Finally, in 2013, they cooperated with Baylor College of Medicine in the United States to tap into a new technology to identify the disease. Eventually, they discovered a mutation in the gene ADAMTS15 associated with a number of diseases. They studied the mutation further and uploaded the information they derived from international medical databases. When they came across four similar cases in Germany and the United Kingdom, they reached out to more foreign colleagues. As a result of the cooperation, they discovered data supporting their findings following studies on cell cultures and mice embryos.
Professor Özgür Çoğulu, one of the Turkish scientists investigating the mysterious illness, told Anadolu Agency (AA) on Thursday that the patient was still suffering from the disease.
"The gene, when not mutated, reinforces connective tissue. When mutated, it produces less protein and causes diseases. We did not discover the underlying cause yet but together with our colleagues abroad, we are working on it," he said. "Once we can find a detailed explanation, we will be able to work on treatment," he added.