Man found to have rare genetic condition after daughters are diagnosed

Discoveries help them be put on appropriate treatment to avoid further suffering from symptoms

- Judith Tan Correspondent

Mr Mohamad Shahrel Hamid has two rare conditions that have caused him much suffering, including the loss of his left leg. But he could have been spared the pain of one of the conditions if it had not been diagnosed only many years later, after he became a father to two girls who inherited the condition from him.

The 45-year-old spent his childhood and teenage years plagued by unexplained fevers, ulcers and diarrhoea.

“I was a constant visitor to the hospital, but I was given medication only to control the symptoms. Once they were managed, | could go home, only for them to start again soon,” the general worker said.

Then, during his national service, he discovered a painful swelling in his left ankle.

“After seeing the doctor and taking medication, the pain went away, but the swelling stayed. Since there was no pain, I carried on life as usual,” he said.

But the pain returned in May 2024, this time worse than ever. Mr Shahrel, a father of five, could not put any weight on his left leg.

“I was referred to Tan Tock Seng Hospital (TTSH), where doctors found a benign tumour in my ankle. It was removed in July, but two months later, it grew back and spread to behind my knee, in my groin area and below my stomach,” he said.

Mr Shahrel was asked to amputate his leg to save his life “but at 44 and providing for my wife and five children, I could not”, he said.

He was then given oral chemotherapy to help subdue and shrink the tumour.

It did not work.

Dr Lim Xin Rong, a senior consultant at TTSH’s department of rheumatology, allergy and immunology, told The Sunday Times that the growth on Mr Shahrel’s ankle was a tenosynovial giant cell tumour, which is rare.