ABBOTTABAD June 10 - “Diastrophic Dysplasia, a rare disease and probably the first of its kind in Pakistan,” says Dr.Jehangir Khan, a professor at Ayub Medical Complex Hospital while briefing the media at AMC in Abbotabad on Monday.

According to medical reports and surveys, this disease is found in Finland where at least 140 patients have been identified and now, the disease found its way into the home of a poor carpenter, Muhammad Urfan residing in Mogan village in Mansehra district.

According to details, Naheed Akhter (17 yr) who is short of height and only 85 CM (3 feet) was brought to AMC for multiple medical problems with heavy conjunction on her chest and after detailed study and family history, it was found that she was suffering from the diastrophic dysplasia. Her elder sister Shaheen Bibi age 24 also died few days back allegedly due to similar problems.

Four patients suffering from diastrophic dysplasia have been admitted in AMC Medical Ward B where Naheed Akhter is being treated by the doctors to save her life. Efforts are being done to save the other five members of the family who are normal, but chances of them being a “carrier” for the disease are very much there says Dr.Jehangir.

Dr.Javed, head of medicine Ward B, constituted special investigation team headed by Dr. Jehangir assisted by Dr.Nasir Ahmad, Dr.Atiq-urrehman, Dr.Moosa and Dr.Hani for detailed investigations and consultations with the experts in Finland through video chat. The results of which have confirmed the disease in which due to disorder of cartilage and bone development affected individuals have short stature with very short arms and legs, inward- and upward-turning foot (clubfoot), progressive abnormal curvature of the spine, and unusually positioned thumbs (hitchhiker thumbs).

Doctors of Ayub Medical Complex are trying to conduct a study for which they are seeking assistance from laboratories in Pakistan and abroad. Due to the heavy cost on the study and long term treatment, they are seeking medical and financial assistance from the government, research institutes and philanthropists.