World-first surgery saves boy with rare condition affecting just 35 people in the world

Last year Sami came within weeks of dying, now he's looking forward to going back to school, ITV News Health Correspondent Martin Stew meets him, his family and the doctors behind his life saving surgery

Sami is a smiling 12-year-old boy, enjoying the last days of his summer holidays and looking forward to going back to school.

But one-and-a-half years ago he came within weeks of dying. 

Sami suffers from Multisystemic Smooth Muscle Dysfunction Syndrome (MSMDS), an extremely rare condition of which there are only 35 cases in the world. 

MSMDS is caused by a genetic mutation which weakens the walls around arteries, putting patients at risk of them rupturing or tearing apart. 

Two years ago, doctors told Sami’s parents, Naima and Abdul, that the main artery from his heart could burst at any moment.

At first, it seemed that the only option was palliative care. 

Father Abdul Rohim (l), Sami and his mother Naima Akter. Credit: ITV News

Sami's mum Naima Akter said: "To be honest I didn't lose my hope I was always expecting a miracle was going to come anyway.

But then, doctors from Great Ormond Street Hospital and Barts Health teamed up to see if they could carry out an operation which had never been performed on a child before. 

Dr Elena Cerv said: "If there was a chance of something to be done it was worth pursuing. "

Professor Aung Ye Oo and Dr Elena Cerv Credit: ITV News

After discussions with Sami’s family and more than 20 hours of planning, Sami’s medical team decided on Christmas Eve that they could go ahead with the operation.

It took place on 30 December 2022, with a 50/50 chance Sami wouldn’t survive and the risk of brain damage too. 

Professor Aung Ye Oo said: "Seeing him back in outpatient clinic, and walking back in with a big smile on his face was a great deal for all of us.

Dr Cervi added: "It's amazing he's developing into a young man and he's always cheerful so I'm very happy to see him like that."

'It's amazing he's developing into a young man' - The doctors behind Sami's surgery were delighted with the results

But on New Year’s Day, when he came round, it was clear all the work had paid off.

Ms Akter said "We're really proud of them and proud of sami too and grateful

Sami will be going back to school full time soon, he said: "I'm haven't seen my friends for a long time so I'm a little bit excited and a little bit nervous."

Sami’s dream now is to take his first ever flight on holiday with his brother, Salman

A dream made possible by this daring medical first.

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