Mum fights for baby's life after rare diagnosis
KRISTY Iles' superhero doesn't wear a cape or a mask, but he does wear a feeding tube.
The Rockhampton woman calls her tiny son Elliot Silveri her hero after the four-month-old was diagnosed with rare metabolic condition nonketotic hyperglycinemia back in May.
The genetic disorder, thought to affect about one child in every 60,000, means there is a problem breaking down the amino acid glycine.
Because glycine is not broken down, it accumulates in the body and excessive amounts disrupt the function of the brain.
The mother lives with the reality that her beautiful son could die at any time.
But Elliot has already beaten the odds.
Most babies diagnosed with NKH lose their battle for life in the first six weeks, and Kristy said her superman continued to fight for life.
Elliot was now even smiling and "baby talking", milestones doctors said he would never reach.
"Our little superhero is the strongest and bravest person I know," she said.
"The doctors said, 'no he won't make it', so it is amazing for him to be doing so well.
"Exhausted most nights, I try not to close my eyes. I fight sleep because I fear waking up and my baby is gone.
"Superman Elliot is fighting this NKH battle. He is doing the impossible and he is on a mission to try to prove the prognosis wrong."
Kristy said the condition was so rare there was no government funding for research.
So she's taking the search for a cure into her own hands by holding a Superhero Sunday fundraising event.
Being held at Rocky's Oxford Hotel on August 21, the costume event has already attracted the support of local act Jeremy Marou, Dave Dow and the Commonwealth Bank.
Yesterday, Kristy said she was blown away by the community support.
"Oxford owners Ian and Helen Jones and manager Aaron Gordon jumped at the opportunity," she said.
"I want to get it out there what NKH is and create awareness to create the funding, to keep the research going."
Kristy said funds raised by the event would go to inherited metabolic specialist Dr Van Hove.
Get to know NKH:
- Children with NKH usually present as newborns, but one in five children presents in infancy.
- Typical symptoms include seizures, low tone, and severe problems with learning and development.
- This can profoundly affect a child's ability to learn and to do normal things such as eating, sitting and walking.
- The seizures can be so severe they are hardly controlled, despite the use of several medications for seizures. Not all children are equally affected.
- Most commonly, children are severely affected and do not make developmental progress and have difficult-to-control seizures.
- Some children, about one in six, are more mildly affected. They make progress in their development and have seizures that can be controlled more easily.