Experts at GOSH and Barts team up for world-first operation

Clinicians had always feared the risk of operating on Sami, 12, was too high due to complexities caused by Multisystemic Smooth Muscle Dysfunction Syndrome (MSMDS) – of which there are only 35 reported cases in the world. MSMDS is a genetic disease, with no cure, that can cause a wide range of problems, including dangerous enlargement of the arteries and a high risk of stroke.

As Sami’s condition worsened and his aorta became more and more dilated, his GOSH consultant Elena Cervi, called an emergency multi-disciplinary team meeting to see if they could undertake previously unthinkable surgery. They teamed up with Professor Aung Ye Oo, Lead for Aortic Surgery at Barts, who has a vast experience of adult thoracoabdominal aortic repair.

After many discussions with Sami’s family, an Ethics Committee meeting, and over 20 hours of planning, including a meeting of around 40 experts at GOSH and Barts on Christmas Eve 2021, the first operation went ahead on 30 December 2021.

The 12-hour operation involved bypass surgery where the circulation to his brain and lower body was stopped for a period. It allowed the team to control Sami’s circulation to ensure they got the perfect balance to allow them to begin to repair his aorta without it rupturing, while preventing a stroke. It has never been performed on any child in the world before.

The operation proved to be such a success that Sami has since had two further complex surgeries to minimise his risk of further acute deteriorations.

After three major operations and prolonged hospital stays for a total of nearly five months, Sami is now at home. He will come back regularly so the team can monitor his progress.

Sami is now back to school and is most looking forward to art and design technology lessons. He’s also hoping to visit America as he’ll be able to fly for the first time.