Fighting for Malakhai: A mum's nightmare
WHEN Malakhai Riley was seven months old, his mum Cassie Lamos noticed something was not right with her little boy. She could never have prepared herself for what was to follow.
Two weeks ago, the 13-month old Warwick boy was finally diagnosed with Niemann-Pick Type A, an extremely rare incurable disease.
Malakhai is the only known person in the country with the disease and doctors say he may live to two or three years old, but could die within months.
Niemann-Pick Type A is a genetic storage disorder disease, which means fat is not distributed throughout Malakhai's body to assist normal growth, but is localised to the liver and spleen, causing irreparable damage to these and other organs, as well the child's nervous system.
His mother is shattered.
"About six months ago I had a gut feeling that something was very wrong," Miss Lamos said.
"His stomach was all bloated and he simply wasn't growing and as time went on he wasn't reaching normal developmental milestones, like sitting and crawling."
In April this year, a concerned doctor referred Miss Lamos to a paediatrician at the Warwick Hospital.
Blood tests ruled out the obvious possible diagnoses and Malakhai was referred on to Lady Cilento's Children's Hospital in Brisbane for further testing.
Here the young boy was subjected to a range of tests from the hospital's metabolic team before a diagnosis finally came back in mid-August.
"Leading up to the diagnosis I went through a huge amount of emotions," Miss Lamos said.
"I didn't want him to have a life-threatening condition, but deep down it was clear something was wrong.
"I was so stressed and worried, not knowing if my little man was going to go before me, it's been horrible and I'd never wish it on anyone."
When the diagnosis finally arrived, Miss Lamos said it broke her heart beyond repair.
"It was a blur, I felt completely numb to hear the worst possible outcome and there was nothing I could do to change it," she said.
"Nothing but bad news, although there was some comfort in the fact the hospital staff will be there every step of the way."
Doctors emailed other children's hospitals around the country in a search to find another child with the disease and a hopeful solution, but none came.
There are currently cases of children in the UK and the US with the disease and doctors from Lady Cilento's are on a fact-finding mission to determine how best they can assist Malakhai.
A recent sleep study showed the boy has issues breathing while sleeping, so he will now live with an extra oxygen supply.
His bloated organs don't allow food to be processed properly so surgeons will soon insert a feeding tube and external button to allow Miss Lamos to feed her son.
A reactive gagging reflex has made it nearly impossible for Malakhai to swallow.
Miss Lamos, who moved to Warwick at Christmas time, said she had made the move north from Mildura to be closer to family.
"I obviously had no idea at the time exactly how much I was going to need them," she said.
Miss Lamos said her kids were everything to her.
"Now I just have to prepare for the worst.
"I have to be there for him, and hold onto every memory I can with him, cherish every moment," she said.
"All the things you dream you'd do when your child is young, I have to try to squeeze as many of them as I can into the next months, and hopefully years."
Currently the family, including Malakhai's siblings, eight-year-old Amelia and three-year-old Khoen, are staying with Miss Lamos's mother in Beenleigh, as they prepare to move from Warwick to be closer.
"The hospital staff have been amazing, they've gone out of their way to make life as comfortable for Malakhai as they can and have given me all the info I need on what lies ahead," she said.
Miss Lamos's sister Tarryn has started a Gofundme page to help with Cassie's costs of moving, transport, medical costs and to help pay for the funeral.
Miss Lamos said she had been a single mum for eight years and had never asked for help before.
"But I simply can't do this on my own."
To help this family, go to www.gofundme.com/help-little-malakhai