A Man with Big Head- Sain Mumtaz

There is a real life Klingon on the road between Lahore and Narowal in Pakistan where he makes a good living scaring people!

Sain Mumtaz has the most extraordinary big head – but what is causing its extreme growth and how Sain might be treated is a total mystery. This terribly disfigured man lives around 100km from the Pakistani city of Lahore on the road to the town of Narowal.

Sain was told as a child that he suffered from Proteus syndrome – the same condition as Joseph Merrick, the original Elephant Man. But Proteus is renowned for affecting only one side of the body, to the trained eye the symmetrical deformity of Sain’s face and skull suggests he is probably suffering from a different condition– but which of the many rare congenital dysmorphologies could it be?

Sain’s family sought no medical intervention for their son throughout his childhood, but now Sain is 18, and he wants to know what is wrong with him, and whether anything might be done to improve his day-to-day life. He has hopes for his future, one day he would like to run a rickshaw business, but he sees no place for marriage in his life. He believes that he is the way he is because God has cursed him. It’s for him and him alone to bear the weight of the curse.

Leading Australian clinical geneticist, Dr Edwin Kirk (see below), from the Sydney Children's Hospital and the University of New South Sales, in Australia, has extensive experience of diagnosing extreme congenital deformities. He is keen to travel to Pakistan to meet this big head man Sain, now 18 years old, and to test, scan and diagnose the condition that is causing his problems. Back in Australia he would consult with expert clinician Dr Glen Marshall about which treatment would suit Sain best.

Is there any drug based treatment that could help this rare case? Would Sain accept the idea of corrective surgery? Are there practical suggestions to be made that could improve his daily life?