A MUM whose daughter has a disease known as childhood Alzheimer’s says her little girl will soon forget how to walk and talk – and will die when she’s just a teen.
Cara and Glenn O’Neill’s daughter Eliza, 11, has been battling Sanfilippo’s Syndrome for eight years and needs assistance with pretty much most of life’s daily tasks.
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“We get her dressed, change her – she needs somebody with her all the time,” Cara, 46, who also launched her own foundation based in South Carolina, US, old Central Recorder Online.
“She can walk and run around still, which is wonderful, but she needs constant attention and assistance.”
Eliza is suffering from an aggressive type of childhood dementia, Sanfilippo Type B. Treatments are expensive and often not effective.
“I feel like we’ve had three lifetimes in the last seven-and-a-half years.
“Basically, our whole life has been about making a difference to this condition. I left my job, Glenn left his position.”
Childhood dementia starts at birth and follows a sufferer through their development, unlike Alzheimers which typically occurs later in life.
The disease gradually takes away speech and walking ability, leading to most victims dying as teenagers.
The disease is “not so much like forgetting where your keys are”, Cara points out, but rather it’s a genetic malfunction that “occurs during the developmental process – you know, the way your brain is wired. There are impairments all along the way”.
Glenn and Cara created the Cure Sanfilippo Foundation and are seeking a cure for this horrible disease which leaves its victims bedridden and in a constant state of delirium in their final years.
Cara claimed that Eliza was a problem when she was just 15 months old.
Central Recorder Online spoke to her about her daughter’s delayed speaking abilities, particularly when compared to her brother, who was able to talk all the time at that age.
“But we were reassured that oh, she has a lot of ear infections, that her brother spoke for her all the time; that every child’s different.”
Eliza was unable to keep up with her peers in nursery despite receiving speech therapy.
You get a feeling, a ‘oh no, this is bad. This is just really, really bad’
Cara
“Things began to shift when she moved up to the three-year-old room at the child development centre and it became a little more obvious that she was having problems with toilet training, her ability to interact with peers was different, her activity level, her attention level, things like that.
“She was separating more from the norm and at that point she was diagnosed with autism… Our experience is a very typical story in what happens in the diagnosis journey.”
Cara, who was a former medical professional, remembers being in the room of the specialist when Eliza’s story was revealed to her.
“I was just by myself and Eliza and she’s rummaging around the room and the genetic counsellor comes in, and…you know the second they walk into the room, right, you get a feeling, a ‘oh no, this is bad. This is just really, really bad’ and I know the group of disorders because of my paediatric board of exams.”
Glenn was the one she called and told her to hurry over.
He drove up from his house and said, “We must hear this together.”
“Twenty minutes later he arrives and of course, those are a torturous 20 minutes of waiting but at that moment I knew we had to be hearing everything together from that point on.”
Like other parents desperate to save their kids, Cara and Glenn enrolled Eliza into experimental gene therapy trials when she was a toddler.
To ensure that Eliza didn’t get a virus called AAV9, the vector for gene therapy, her family was forced to isolate themselves for two years.
It would cause her to develop an immunity, which would make it impossible for the virus to enter her body.
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WHAT CAUSES CHILDHOOD DEMENTIA?
The genetic defect known as childhood dementia can be caused by faulty genes passed from parents. This is often irreparable.
These genes are unable to metabolise complex sugar molecules, age-pigments such as Lipofuscin or Heparan Sulphate, which can cause irreversible brain damage and damage.
These conditions can cause speech impairments, vision loss, cognitive decline, and, in some cases, even death.
While only five percent of these conditions can be treated, therapies can cost hundreds of thousands of dollars.
There are 147 different types and forms of childhood dementia. The majority of childhood dementias are genetically related. They are often caused or inherited from one gene.
Childhood dementia is usually diagnosed in infancy and continues throughout the patient’s life. Alzheimers occurs much later.
Only five per cent of childhood dementia illnesses have a treatment, and they’re usually out of reach of families because of their hefty price tag.
Dr Ineka Whiteman, lead health expert with Batten Disease Support and Research Association in Australia – which helps families of Batten Disease sufferers, another form of childhood dementia – says one form gene therapy costs around £422,000 ($800,000) per child, per year while others just aren’t ready for mass roll-out.
“So far, there is no cure and treatments are limited to only addressing the symptoms of each of the individual diseases,” Central Recorder Online was informed by her.
“There’s nothing really out there that’s considered efficacious treatment for any of the disorders but for a handful and one of those is for Batten disease.”
SEARCH FOR A CURE
She reminds us that childhood dementia is comprised of “generally between 70 to 147 different types” which makes treatment complex, and that the best chances of halting this debilitating disease is through early detection.
But in illnesses like Batten disease and Sanfilippo syndrome, she says, parents can expect to see a “normal trajectory” in their child’s brain development until the age of five or six.
They will start to notice changes in their child’s brain at this time. Cognitive and behavioral changes are the first signs, followed by vision loss.
Parents will then typically engage with optometrists but by then there’s already been a “general decline” and irreversible damage done to a child’s brain.
Fighting for a cure
Families opened up to Central Recorder Online about their experiences of childhood dementia.
FRANCESCO PROCU, 9
Katia Moletta, 44, from Italy, remembers the day her happy-go-lucky son Francesco was diagnosed with Sanfilippo syndrome.
She said doctors sent her on a merry-go-round of tests and hospital visits over an 18-month period before his diagnosis in February 2015.
“I remember the doctor telling me: ‘It’s a tough disease, there is no cure. When you’re child will be 10, he will start not walking, not eating by himself, he’ll have epileptic crises and there’s no cure’,” she told us.
“I remember I had Franceso in the stroller so I was going up-and-down, up-and-down the corridor of the hospital, crying and thinking and looking.”
Katia has now launched her own charity called Sanfilippo Fighters.
MISHA MAGOEV, 5
Olga Magoev’s son Misha, is the only child with the disease in their remote republic of Karelia in Russia and travelled 900kms to Moscow to receive a diagnosis.
Olga, along with her husband Andrey, work to pay Misha’s EUR 450 monthly medical fees. Due to their remoteness, they rely on WhatsApp chats most of the time for their information.
Tatyiana, Olga’s sister, told us: “On the one hand, when Olga looks at the future, she understands that she gave her child everything that she could because at the moment he got his diagnosis, she gave him the best treatment that existed for that moment and that makes her feel better.
“She understands that he’ll never be healthy and, well, it’s easier to understand that you did everything you could to help.”
DEE, 15
And then there’s Angela, who decided to be the foster parent to Dee, a 15-year-old Aboriginal girl who has Batten Disease.
They live in Australia’s dusty Alice Spring and often travel by plane two-and-a half hours to Dee for treatment.
Angela says Dee suffers from intense seizures and impaired vision that’s like “having layers of clingfilm” over your eyes.
For a period of time, Dee was so bad she couldn’t even look at light with “going to ground” with epileptic fis.
Angela said watching Dee deteriorate is like seeing “this pixelated being that’s just slowly taking off into space with parts of her disintegrating before me”.
Whiteman, a former Pfizer rep, and the Mito Foundation consultant in Australia, believes that one gene can cause childhood dementia. It is not difficult to find a treatment, but it can be expensive and sometimes end in failure.
“For every 1000 molecules that go through a laboratory – the discovery phase and research phase – only one molecule of those will ever be fully developed all the way into clinical trials and into humans and made it to market as a prescribed drug,” she explains.
“But, when you think about rare disease, you’re only going to be potentially prescribing it to 100 people over the world, if it’s an ultra-rare disease then pharmaceuticals are never going to make that money back.”
Childhood dementia is a leading cause of death in children.
It is a debilitating condition that affects one in sixty thousand children worldwide.
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