Moving mountains for kids with rare diseases
Dr Kaustuv Bhattacharya and Associate Professor Bruce Bennetts would move mountains to help their patients but this month, rather than moving them they have settled for simply climbing them.
On April 28, Dr Bhattacharya, staff specialist in the Genetic Metabolic Disorders Service, and A/Prof Bennetts, Department Head of Molecular Genetics at The Children's Hospital at Westmead, along with five others will set off on the first ever MPS Himalayan Challenge, a 21-day trek through the Himalayas to raise funds for young patients at The Children’s Hospital at Westmead with rare genetic and metabolic disorders.
Led by Sherpa leader, Jamling Norgay (son of Tenzing Norgay), the group will trek 6150 metres up to Island Peak, winding from Lukla, through Namche Bazaar and up to Gokyo Lakes before crossing over the high passes into Everest Base Camp.
The trek of a lifetime is aiming to raise $100,000 for the Rare Disease Research Fund at The Children’s Hospital at Westmead, with all funds raised being donated via charity partner MPS Australia. The money will go towards funding important research to identify rare diseases and help design innovative, new treatments to help kids like 10-month old Sam.
Sam was born with a rare and incurable genetic disease known as Glycogen Storage Disease (GSD). The condition, which in Sam’s case is caused by a missing enzyme, prevents Sam from being able to convert stored glycogen to energy and impairs the function of certain organs and tissues, especially the liver and muscles.
Dr Bhattacharya is currently managing Sam’s condition through a strict diet regime, which helps to prevent a hypoglycaemic attack. The regime initially required Sam to be fed 24 hours a day through a pump, but Dr Bhattacharya has since developed a way for Sam to tolerate at least three hours off the pump using a corn starch formula.
It is Dr Bhattacharya’s hope that the trek will help raise the funds needed so that he and his team can continue furthering research and developing new treatments for kids like Sam.
“This trek is all about helping kids like Sam. At the moment, Sam’s family have to watch him continuously to make sure he does not become unwell. One day though, as we continue research into new treatment, we hope that Sam will be able to eat normally,” Dr Bhattacharya said.
In addition to fundraising, the trekking party will also be carrying educational supplies up the mountain to deliver to the Shree Himalaya Primary School located in Namche Bazaar. These supplies have been generously donated by St Mary’s Primary North Sydney in conjunction with the Parents and Friends Association.