Full of hope and strength: Oliver McCoombes with his parents Phillip and Catherine. Photo: Osyth Sanders.
THE Ipswich family of four-year-old Oliver McCoombes, who is battling a rare and fatal type of childhood dementia, are hoping and praying for a cure.
Most sufferers of Sanfilippo syndrome, will forget who their parents are and will not reach adulthood, but Oliver’s close-knit, extended family believe researchers could be on a path to finding a treatment to slow the progression of the syndrome.
“Oliver looks like a normal little boy, there’s nothing to suggest he has a terminal condition,” grandfather, Peter Arndt, who is Brisbane archdiocese’s Catholic Justice and Peace Commission executive officer, said.
“We’re still hoping that with gene-therapy, and other trials for treatment, this can produce the miracle we’re hoping and praying for.”
In Australia, there are less than 100 cases of Sanfilippo syndrome, a genetic condition that causes brain cells to fill up with waste that the body is unable to process.
As the brain gets progressively damaged, children experience severe hyperactivity, disordered sleep, loss of speech, intellectual disability, cardiac issues, seizures, loss of mobility and finally death.
Oliver’s parents, Catherine and Phillip received the Sanfilippo syndrome diagnosis in March after nine months of investigation into Oliver’s developmental delays.
“When Oliver started kindergarten, his development slowed down, but the behavioural issues we were seeing really ramped up – he had become very hyperactive. We’d noticed he was also constantly chewing his hands,” his parents said.
“We decided to take Oliver to a paediatrician. Oliver had developed glue ear just before he turned two, when he was just starting to talk.
“When his speech started going backwards, the specialists thought this was due to him not being able to hear properly.
“We all thought he would improve once he had grommets put in.
“He never made much progress with his speech and we started to wonder if there was an underlying cause.”
“We shared our concerns about Oliver’s development with the paediatrician, and it was this, coupled with him noticing certain facial features in Oliver, that prompted genetic testing.”
Catherine and Phillip describe Oliver as an “affectionate and very active little boy”, so the diagnosis of Sanfilippo syndrome was “one of the worst things a parent can possibly hear”.
“Oliver’s laugh and smile are infectious, and he’s always talking to everyone when we go out,” they said.
“Oliver (pictured) loves books and has a bookcase filled with them. He would prefer to sit and look at his book than play with a toy.
“He is also a loving big brother to his sister Maisy.
“We often find him sitting down showing her a book or giving her a kiss and cuddle.
“When she cries, he checks on her and gets upset when she’s upset.
“It was of course a huge weight lifted off our shoulders when we found out that Maisy does not have Sanfilippo.”
Grandfather praying: “Oliver looks like a normal little boy, there’s nothing to suggest he has a terminal condition.”
Researchers around the world are working hard to find effective treatments.
A trial, looking at gene therapy, to replace the disease-causing genes with functioning genes, has been underway since about 2017 in Adelaide.
“There is significant hope for these therapies, while they remain experimental there is potential for them to make a profound impact for children and families living with this devastating disease,” paediatric neurologist Dr Nicholas Smith said.
Mr Arndt said when he now heard healing stories from the Gospels he immediately thought of his grandson and his family.
His prayers are for Oliver’s healing.
“I don’t know what the response will be, but I have faith somehow, in some way, there will be a transformation,” Mr Arndt said.
“I have great hope that something good will come to Oliver, his family and all of us.”
Oliver’s parents said home life has become hectic with many more doctors and specialist appointments.
They want to treasure the time they have with Oliver and create happy memories.
“Oliver is very much loved by a big extended family with grandparents, aunties, uncles and cousins who have all taken the news just as hard as we have,” they said.
“We hope that the Sanfilippo Children’s Foundation will help advance the science so a treatment and one day a cure can be found. Our hopes and dreams for Oliver are that we will get to see him grow up, and that he won’t have to suffer. Oliver deserves every chance at life.”
Join the campaign Hope for Oliver to raise funds for research into this childhood dementia.
