The joy of bringing home a beautiful baby boy turned to confusion and uncertainty for Lynda Gamack and Glen Marshman, after leaving hospital with newborn baby Josh.
Mr Marshman and his wife received a call at 10pm that night, nine years ago, notifying them that blood screening checks carried out at birth had indicated that Josh had a metabolic disorder known as multiple-acyl-CoA dehydrogenation deficiency, or glutaricaciduria type II (GA II).
This condition means that Josh is unable to cope with prolonged fasting because he is unable to break down stored fat at the usual rate to provide enough energy.
Dr Bhattacharya, Josh’s metabolic physician in Sydney, said, “Joshua’s disease is extremely medically complex. He has many diseases rolled into one.”
He added, “Josh presents with lethargy, drowsiness, osteopenia, hypoglycemia, muscle disease, hypontonia and developmental delays such as delayed gross and fine motor skills.”
Mrs Gamack indicated that Josh can be unpredictable, day to day and hour to hour. “On good days he can appear normal so his disease and its severity is often doubted,” she said.
“A g-tube has been placed in Josh’s stomach through which we feed him cornflour morning and night.
“This doesn’t replace his normal meals, but provides him with the extra energy he needs.
“There is no other product commercially available to cater for Josh who needs low fat, low protein.”
With last Friday being National Make a Wish Day, Emma Rhoades, Vice President of the Make a Wish Foundation, presented Josh with a brand new SeaDoo Jet Ski package valued at over $16,000 donated by SeaDoo.
Mr Marshman pointed out that Josh has never been able to do the “normal’ things that kids do such as ride a bike.
“His body simply overheats with any exertion,” he said.
“This jet ski will enable Josh to finally have fun like other kids.
“The water will keep his body cool and he can sit back and enjoy the ride.”
If anyone would like more information regarding the Make a Wish Foundation, you can contact Emma Rhoades on 0430 535 487 or check out the website www.makeawish.org.au
Story: Darrell Nash
