Mandy and David McWaters want to have as many special moments as they can with their daughters before childhood dementia makes that impossible.
Maiah, 20, and Kenzlie, nine, have the CLN3 variant of Batten disease and are two of only three cases in South Australia. Children with this variant has a life expectancy ranging from the age of 10 to mid-20s.
Maiah was diagnosed at the relatively late age of 14, after her vision became impaired at the age of 10 and she then began having seizures at the age of 12.
David’s cousin had lost a daughter to the disease at 16 but, even so, the family says it had to fight for a diagnosis, with doctors dismissing her other symptoms of personality change and confusion as behavioural issues.
“Because it took so long, we knew anyway,” Mandy said.
“We had already gone through the movements and the motion of grief.”
No dedicated respite centre in SA
There is no treatment or cure for the CLN3 variant. There is hope however that some Australians will be able to take part in US-based clinical trials later this year for a treatment to slow the progression of the disease.
Mandy, from Hindmarsh Island south of Adelaide, doesn’t want sympathy. She describes herself as luckier than some, saying at least she gets to see her children grow up.
What she does want is a better understanding of the disease, both among the public and doctors, and respite options in South Australia, which doesn’t have a dedicated respite centre or hospice for children with life-limiting illnesses.
Dr Ineka Whiteman, head of research and medical affairs at the Batten Disease Support and Research Association (BDSRA) Australia, says this means Kenzlie in particular is missing out on quality-of-life activities she could still be able to enjoy.
“It’s so vital for the families that do access it,” Ineka said.
“Sydney has Bear Cottage, there’s Very Special Kids in Melbourne and Hummingbird House in Brisbane.
“Those facilities are open for families in each of those states to go and have respite. It not only supports the affected child but the whole family unit.
“It’s their home away from home so they can go and stay; they’ve got self-contained units, they’ve got 24/7 specialist care and nursing staff that can look after them.”
A lifeline for parents
Ineka met the McWaters last year when they visited Queensland for Kenzlie’s Starlight Foundation wish.
She has nothing but admiration for the advocacy and care shown by them and other families as they cope with the progression of the disease.
Ineka, who started volunteering for BDSRA after a friend’s daughter was diagnosed with Batten’s, says the group is a lifeline for parents who find themselves isolated by the disease.
The group receives no government funding but through philanthropy and donations it supports families and has awarded more than $400,000 in local research grants since 2020.
“This is all a lot of raffles, a lot of sausage sizzles, a lot of Bounce for Batten days,” Ineka said.
“We’re going to cure Batten disease one sausage sizzle at a time, but it’s the long, hard way to do it.”
Music, movies and Monopoly
Although Maiah can no longer watch her beloved Disney films she listens to them, over and over.
She also loves to sing and every morning the house is filled with the sound of her favourite Bruno Mars and Ed Sheeran songs.
She rarely leaves home now, after becoming prone to panic attacks since being hospitalised due to a series of seizures over summer.
The family is assisted with carers through the NDIS but since her time in hospital Maiah becomes distressed when moved with the use of a patient hoist.
So David does the lifting when she needs to move.
Kenzlie is a happy and chatty nine-year-old. She loves to fish with her dad, use YouTube drawing tutorials and play Monopoly with her sister.
Mandy hopes Kenzlie will progress through school to year 12 as Maiah did, with the help of the “fantastic” disability unit at Victor Harbor High School.
She also attends the Goolwa Sea Scouts and this week is taking part in her troop’s Bounce4Batten fundraiser to support BDSRA Australia.
June 9 is International Batten Disease Awareness Day.
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