Planting a kiss on the forehead of her doctors is the way sweet Summer Harris shows her affection.
For the team of researchers at the Murdoch Children’s Research Institute (MCRI) charged with unlocking the five-year-old’s rare dementia disorder, it’s a moment that melts their hearts and takes their job from petri dish to the personal.
When you understand Summer’s parents, Jeanette and David, were told their little girl would not live much beyond her fifth birthday, it’s even more heartwarming.
The Harris family is sharing their story as part of news.com.au and The Australian’s Think Again campaign which is backing calls for a National Child Dementia Unit (NCDU).
Such was the family’s determination to see their daughter thrive beyond her devastating diagnosis that she’s here today – the poster child of Hope Starts Here, a new documentary hosted by Fox News correspondent Benjamin Hall, that follows three families affected by KIF-1A Neurological Disorder [KAND] in Australia and the US.
Affecting muscles, nerves and cognition, Summer’s specialists initially put her symptoms down to cerebral palsy.
After passing all her newborn testing, by two, she could not walk, sit herself up or speak. When her vision faltered, her mother knew there was more to the story.
An MRI and blood tests sent to the US would take almost a year to confirm KAND.
“There were only 23 children in Australia at the time, and 600 worldwide,” Mrs Harris said.
“So it was an ultra rare mutation. The pediatrician didn’t know anything about it … and that’s not what you want to hear,” she said.
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Working off little clinical information, the Harris family started their own foundation, looking for answers and a way out of the isolation of their daughter’s disorder.
That’s when they found the MCRI’s research, led by scientist Dr Simran Kaur, whose team is using advanced genetic technologies to identify KAND variants more rapidly and accurately.
“Time is a big factor – time and funding – that’s what we’re constantly chasing here … to help find treatments and hopefully, improve the qualify of life of these children,” Dr Kaur said given the life-limiting nature of the disease
After enduring their own “diagnostic odyssey”, Summer’s parents used their foundation website to connect the researchers with families – creating a community for the care of their KAND kids.
“Families have become an incredibly important part in the research because their lived experiences can help researchers better understand KAND, identify patters and ultimately find answers,” Mrs Harris said.
KAND is just one of 145-plus childhood dementia disorders being studied, with MCRI’s chair of genomic medicine, Professor John Christodoulou eager to set up a National Child Dementia Unit – to share data, fast-track findings and concentrate expertise to unlock these disorders.
Educating GPs and paediatricians is also critical, with the average doctor unlikely to see more than one child with dementia in their whole career.
“People are shocked at the concept that a child could actually have dementia,” Prof Christodoulou said.
“We’ve got to get over that initial shock and educate clinicians about these disorders. What are the red flags that they should look for? And what are the steps that they could follow to help expedite a diagnosis? That’s really the first critical step.”
The MCRI hosted a family day at its Melbourne headquarters earlier this month, screening the documentary and reuniting its producers with the families involved.
“They are so brave with every opportunity to talk about this disorder and share their experience for the benefit of others,” Dr Kaur said.
For Mrs Harris, giving up hope is not an option.
“I have to have hope in order to function every day,” she said.
“And I do, in my heart, I believe there will be a treatment to help and one day, a cure … we just have to keep trying for our children.”
Click to watch Hope Starts Here screening now on Tubi
Read related topics:Think Again