By Alesha Capone
The family of four-year-old Werribee boy Jonah says they are amazed by him and proud of his resilience.
Jonah, a younger sibling to his brothers Eli, 10, and Rehu, 19, is an ambassador for next month’s Jeans for Genes Day.
Falling on August 6, the day raises funds for research into genetic diseases conducted by the Children’s Medical Research Institute.
When he was just 30 hours old, Jonah stopped breathing.
He was transferred to the neonatal intensive care unit at the Royal Woman’s Hospital, where he stayed for 11 days.
Jonah’s mother Leigh Machler said that when her youngest son was 13 months old, he was diagnosed with a genetic condition called Congenital Myasthenic Syndrome (CMS) after undergoing several medical tests.
CMS, a rare illness, can be caused by 32 different gene defects.
People with the condition experience muscle weakness that worsens with physical exertion, including breathing problems.
Ms Machler said Jonah takes medication that controls his muscle weakness most of the time and help him get through each day.
“We spent a lot of time in and out of the Royal Children’s Hospital’s ICU and neurology ward in the first two years of his life, and almost lost our boy a few times,” she said.
“We all had to learn very quickly to work alongside what he needed and although it has been a very challenging and sometimes terrifying journey, his incredible joy for life has carried us all through.
“Watching him learn and grow is an absolute blessing and pleasure every day.”
Ms Machler said she has raised funds for Jeans for Genes Day for the past three years.
She said that her family, friends and the school community at Saltwater P-9 College in Point College, where she is a teacher, “have been amazing in helping us to raise much-needed funds”.
“Jeans for Genes Day is such an important fundraiser as it is purely the work of the scientists in institutes such as the Children’s Medical Research Institute that allow us to still have Jonah with us,” she said.
Visit bit.ly/3iNbEg7 to make a donation to Jonah’s fundraising page.
