Five of a family diagnosed with rare bone disease
ABBOTTABAD, June 10: Five members of a Mansehra family have been diagnosed with diastrophic dysphasia, a rare disorder of cartilage and bone development, according to Professor Jehangir Khan of Ayub Medical Complex Hospital.
Professor Jehangir, who is the in charge of the medicines department, told reporters at the hospital on Monday that diastrophic dysphasia, which had at least 140 sufferers in Finland, had affected the family of carpenter Mohammad Irfan from Mogan village in Mansehra.
He said four members of the carpenter’s family had suffered from the rare disease and were currently admitted to the hospital.The doctor said Naheed Akhtar, 17, was the first in the family to be diagnosed with diastrophic dysphasia.
“She is three feet in height and was brought to the hospital for multiple medical problems, including heart disease and severe chest congestion. After her detailed checkup and examination of family history, it was found that she suffered from diastrophic dysphasia. Her elder sister, 24, had recently died lately,” he said.
Professor Jehangir said doctors were trying their level best to treat Naheed Akhtar and other members of her family in consultation with foreign consultants, including those from Finland, through videoconferencing.
He said diastrophic dysphasia affected the people with short stature, short arms and legs, inward- and upward-turning feet, progressive abnormal curvature of the spine, and unusually positioned thumbs.
The doctor said the average height of diastrophic dysphasia victims from Mansehra was two and a half feet and that they were 17, 12, 10 and seven.
He said tests on the parents of diastrophic dysphasia victims showed that both had a genetic problem, which caused the rare disorders in five of their 10 children.
Professor Jehangir said Ayub Medical Complex Hospital doctors were taking the case very seriously and were in contact with some leading laboratories in the country and abroad for genetic study and treatment of diastrophic dysphasia victims.
“As the entire exercise involves lots of money, so we look forward to the government, philanthropists and research institutions for help,” he said.