When Mark Grech does strenuous exercise, he experiences excruciating pain as his muscles begin to break down and release excessive amounts of protein into his kidneys – but doctors still don’t know why.

The 32-year-old is one of 25,000 people in Malta who live with a rare disease, defined as a disorder affecting fewer than one in 2,000 people.

He spoke about his illness on Rare Disease Day, February 29 – the rarest date on the calendar.

“The hardest thing is not knowing. I fear the unknown since I don’t have a diagnosis,” he said.

“I don’t know what could make my condition worse and I want to find out.”

The problems began six years ago during a personal training session.

“When I left the gym, I could barely walk. It was like gravity was pulling me down,” he said. He initially brushed it off as muscle strain but the next day the pain was worse. When he went to a doctor’s clinic, he was given an injection for the pain – but it had no effect.

Mark says he dreams about when he can exercise again.

“When I returned home and went to the bathroom, I was shocked to see my urine was black. The pain was excruciating,” he said.

Doctors eventually diagnosed him with rhabdomyolysis – the breakdown of damaged skeletal muscle.

It results from the death of muscle fibers and the release of their contents into the bloodstream. This can lead to serious complications such as renal failure, when kidneys cannot remove waste and concentrated urine.

“The pain I felt was out of this world,” he said.

He spent two weeks in hospital being treated with fluids intravenously, to flush out his kidneys. Since then, he has had the same treatment another five times.

A side effect of Mark's illness is black urine.

A neurologist and a geneticist have taken over his case but they still don’t understand what is causing the rhabdomyolysis, although Mark has been warned that he could lose a kidney if he exercises too much. He is constantly in fear of overdoing it.

Having a rare disease can sometimes feel lonely but four years ago, he joined the National Alliance for Rare Diseases Support Malta, set up in 2016, by Michelle Muscat and the Marigold Foundation.

“They make you feel you belong. People have different conditions, but we share the same struggles,” he said.

Mark, (front row far right) with other members of alliance during a recent fundraiser. Photo: Mark Grech

Through the alliance’s links with overseas organisations, he is now being handed a “golden opportunity” to discover more about his condition. At the end of March, he will be travelling to the US, at his own expense, to take part in a research project sponsored by the alliance. He hopes it will give him the answers he needs to get on with his life without fear and is meanwhile looking for a personal trainer as his next step forward.

“It would be my dream to exercise once again,” he said.

For more information visit rarediseasesmalta.com, call 9991 2373 or email info@rarediseasesmalta.com.