First Ever Surgery on Boy Suffering from Rare Combination of Genetic Diseases

A team of Australian doctors has performed the world’s first surgery on a 10-year old boy who was suffering from a rare combination of genetic diseases that sent his blood pressure soaring, triggering a stroke. Matthew Gaythorpe is the only boy in the world who has been diagnosed with two genetic diseases, Autosomal Recessive Polycystic Kidney Disease and Congenital Hepatic Fibrosis, and had also been diagnosed with narcolepsy, a condition which leads to involuntary sleep, when he was four years old.

He was kept on a cocktail of 14 different medicines that he had to take three times a day and had been admitted to hospitals more than 40 times for a number of reasons, including a minor stroke last year. Current treatment options included daily dialysis and a dual kidney-liver transplant while there was a high risk of him suffering from another stroke.

His doctor ultimately received permission to perform an experimental surgery, known as renal denervation procedure, which involved zapping the nerves and tissue surrounding his renal arteries with a custom made device.

Monash Heart institute’s Ian Meredith, who led the surgery, said that they decided to perform the procedure on Matthew based on compassionate grounds. “We felt it may be worth considering in Matthew, even though there was absolutely no evidence to justify this routinely. But he has such a serious blood pressure problem, with so many medications, that it was worth a try on compassionate grounds”, he said.


Source-Medindia