Mother: Can Katie even hear me?
Fresh hope for cure to disease that cut down bright girl
AT age 3, Katie Archer was unstoppable. The Auckland girl wolfed down anything she could lay her hands on — cake and sausages if she was lucky — and loved swimming and ball games.
“If you ever started a sentence with ‘who wants’ she would say ‘me’ before you even finished,” her mum, Lisa Archer, said.
“She knew the alphabet, could count to 20 and loved singing the national anthem and ABBA songs.”
Now, that cheeky little girl that used to bang her breakfast plate against the side of her parent’s bed, demanding to be fed, likely won’t see her 10th birthday.
She can’t talk, or make any controlled noise, nor can she support herself, or register any head control whatsoever.
Katie is blind, tube-fed, and, battling serious respiratory issues, is on oxygen most of the time.
Lisa and husband Brett don’t know whether their daughter can still hear them.
“One of the hardest things for me is can she understand me? Does she know it is me?”
That’s the cruel hell of late infantile Batten disease — a rare, neurodegenerative, incurable and ultimately fatal condition that Archer calls the antithesis of those parental instincts of protecting and nurturing a child.
Each year, four more Kiwi kids are diagnosed with it. Few live past 10.
But now, New Zealand researchers are reporting promising early findings focused on factor that led to Katie’s diagnosis: her genes.
For children to develop the disease, both parents must be carriers of a genetic mutation, something Katie’s parents had been blissfully unaware of until 2011, when she be-
gan having seizures, losing her speech and falling over. A visit to a neurologist raised the possibility of Batten disease; months of trips to Starship children’s hospital confirmed it.
“We searched worldwide for trials or potential treatments, we were prepared to do anything, but there was absolutely nothing,” Archer said.
But, she hopes, there may be something she can do for other kids.
The family have been working with researchers at Otago University and Lincoln University toward a new gene therapy — and the key to a cure could lie in our sheep.
So far, more than 400 mutations in 13 different genes have been ident- ified which cause the various forms of the disease.
Otago University’s Dr Nadia Mitchell and fellow researchers have been trialling a gene therapy strategy involving the replacement of a defective gene with a functional one.
Modified viruses carrying a corrective copy of the mutated Batten disease gene are injected into the fluidfilled spaces in the brain, before “infecting” the brain cells and using them to make protein, which can correct or stabilise the disease.
The researchers have been working with sheep as the animals shared many of the clinical and pathological features of the human disease.
Mitchell and her colleagues have been able to show how a one-off treatment of gene therapy to presymptomatic sheep with one form of Batten disease protected them against it setting in and progressing.
The sheep showed no neurological decline and, apart from a late-onset loss of vision, were indistinguishable from normal animals and their lifespan was extended.
Another trial targeted at sheep with early symptoms has showed the disease stabilising for more than a year, halting further decline.
Further trials were planned for other forms of the disease, with an ultimate aim to push for a clinical trial.
“This is too late for Katie,” said Archer “But I want to help in any way I can to ensure no other families have to go on this horrendous journey.”
The new insights come as charity Cure Kids is again calling on Kiwis to help raise $1 million to support sick children like Katie.
Its annual Red Nose Day appeal runs this month, with 800 schools, 400 firms and 500 volunteers from around the country taking part.
Taking the lead are celebrity couple and Cure Kids ambassadors Art Green and Matilda Rice, who will both dye the tips of their hair red ahead of the official Red Nose Day, on September 29.
People can support the appeal by visiting rednoseday.co.nz, and following it on Facebook, Instagram, Twitter and YouTube, with the hashtags #poseforrednose and #rednosedaynz.