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A mom whose daughter suffers from a disease known as childhood Alzheimer’s says her little girl will soon forget how to walk and talk – and die when she’s just a teenager.

Cara and Glenn O’Neill’s daughter, Eliza, 11, has struggled with Sanfilippo Syndrome for eight years and needs help with most of life’s daily chores.

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Eliza O’Neill was three when she was diagnosed with a rare form of childhood dementiaCredit: O’Neill Family
Eliza with her father Glenn, her brother Beckham and her mother Cara

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Eliza with her father Glenn, her brother Beckham and her mother CaraCredit: O’Neill Family

“We dress her up, change her – she needs someone with her all the time,” Cara, 46, who also started her own South Carolina, US-based foundation, the former The Sun Online.

“She can still walk and run which is wonderful, but she needs the constant attention and assistance.”

Eliza suffers from an aggressive form of childhood dementia known as Sanfilippo type A, which has no cure yet treatment is expensive and not always effective.

“I feel like we’ve had three lives in the past seven and a half years.

“Basically a big part of our life is trying to make a difference in this disease. I quit my job, Glenn quit his job.”

Childhood dementia begins at birth and follows the person with the disease throughout their development, unlike Alzheimer’s disease which usually occurs later in life.

The progression of the disease robs children of their speech and the ability to walk – before most of the sick tragically die in adolescence.

The disease is “not so much like forgetting where your keys are,” Cara points out, but rather it’s a genetic dysfunction that “occurs during the developmental process – you know, the way your brain is wired. . There are deficiencies all along the way.

Glenn and Cara created the Cure Sanfilippo Foundation and are seeking a cure for this horrific disease that leaves its victims bedridden and in a constant state of delirium during their later years.

Cara said she remembers noticing something wrong with Eliza when she was 15 months old.

She told The Sun Online: “She was retarded in her ability to speak, especially compared to her brother who was constantly speaking at this age.

“But we were reassured that she has a lot of ear infections, that her brother talks to her all the time, that every child is different.”

Eliza has had speech therapy but still lags behind her peers at nursery.

You get the feeling of an ‘oh no, this is bad. It’s just really, really bad ‘

Cara

“Things started to change when she moved into the three-year-old children’s room at the Child Development Center and it became a little more obvious that she was having problems with toilet training,” his ability to interact with his peers was different, his level of activity, his level of attention, 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 of what happens in the journey of diagnosis.”

Cara, a former healthcare professional, remembers being in a room with the specialist when she was told about Eliza’s condition.

“I was just all alone and Eliza and she was rummaging around the room and the genetic counselor comes in, and…. It’s just really, really bad ‘and I know the group of disorders because of my jury. pediatric examinations. “

She remembers calling Glenn and telling him to rush.

“We have to hear this together and I called him and he drove home.

“Twenty minutes later it arrives and sure, it’s a torturous 20 minute wait, but at that point I knew we had to hear it all together from that point on.”

Like other parents desperate to save their children, Cara and Glenn enrolled Eliza in experimental gene therapy trials when she was very young.

The family was forced to self-isolate for two years to make sure they didn’t catch a harmless virus called AAV9, which would become the vector for gene therapy.

If she caught it, her body would build up immunity and make the treatment unnecessary as it would not be able to enter her system.

Cara started a charity focused on finding a cure for Sanfilippo syndrome

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Cara started a charity focused on finding a cure for Sanfilippo syndromeCredit: O’Neill Family
Eliza with her older brother Beckham

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Eliza with her older brother BeckhamCredit: O’Neill Family

WHAT CAUSES CHILDHOOD DEMENTIA?

Childhood dementia is caused by a series of faulty genes passed down from parents and often irreparable.

These genes fail to metabolize the complex sugar molecules or aging pigments known as lipofuscin and heparan sulfate – among a few – which cause irreversible damage to the central nervous system and brain.

Symptoms can include trouble speaking, loss of vision and general cognitive decline and, in most cases, death.

Only five percent of ailments can be treated, while therapies can reach hundreds of thousands of pounds.

There are 147 different types of childhood dementia. The majority are genetically related and are often caused by a faulty gene.

Infantile dementia begins with childbirth and follows the patient throughout her development, unlike Alzheimer’s disease which usually occurs later in life.

Only five percent of childhood dementias are treated, and they are usually beyond the reach of families because of their high cost.

Dr Ineka Whiteman, senior health expert with the Batten Disease Support and Research Association in Australia – which helps families of people with Batten disease, another form of childhood dementia – says one form of gene therapy costs around £ 422,000 ($ 800,000) per child, per year while others are simply not ready for mass deployment.

“So far there is no cure and treatments are limited to treating only the symptoms of each of the individual illnesses,” she told The Sun Online.

“There is nothing really out there that is considered to be an effective treatment for any of the disorders, but for a handful and one of them is for Batten disease.”

SEARCH FOR A CURE

She reminds us that childhood dementia is made up of “usually between 70 and 147 different types” which makes treatment difficult, and the best chance of stopping this debilitating disease is early detection.

But in conditions like Batten’s 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. .

This is when they will start to notice that something is wrong with their child, with behavioral and cognitive changes being the first signs followed by vision loss.

Parents will then usually engage with optometrists, but by then there has already been “general decline” and irreversible damage to a child’s brain.

Fight for a cure

Families spoke to The Sun Online about their experiences with childhood dementia.

FRANCESCO PROCU, 9

Katia Moletta, 44, from Italy, remembers the day her cheerful son Francesco was diagnosed with Sanfilippo syndrome.

She said doctors sent her on a merry-go-round for testing and hospital visits for an 18-month period before her diagnosis in February 2015.

“I remember the doctor who said to me: ‘It’s a difficult disease, there is no cure. When you are a child, he will be 10 years old, he will start not to walk, not to eat. on his own he will have epileptic seizures and there is no cure, ‘she told us.

“I remember I had Franceso in the stroller, so I was going up and down, up and down the hospital hallway, crying, thinking and watching.”

Katia has now started her own charity called Sanfilippo Fighters.

MISHA MAGOEV, 5

Misha, the son of Olga Magoev, is the only child with the disease in their remote republic of Karelia in Russia and has traveled 900 km to Moscow to be diagnosed.

Olga and her husband Andrey both work to pay Misha’s monthly medical bills of 450 euros and, due to their remoteness, rely on WhatsApp chats for most of their information.

Tatyiana, Olga’s sister, told us: “On the one hand, when Olga looks to the future, she understands that she gave everything she could to her child because when he received her diagnosis, she gave her the best treatment available at the moment and it makes her feel better.

“She understands he’ll never be healthy and, well, it’s easier to see that you’ve done all you can to help.”

DEE, 15

And then there’s Angela, who decided to be the foster parent of Dee, a 15-year-old Indigenous girl with Batten disease.

The duo live in dusty Alice Spring, Australia, and sometimes travel two and a half years by plane for Dee’s treatment.

Angela says Dee suffers from severe seizures and blurred vision, it’s like “having layers of cling film” over her eyes.

For a while, Dee was so bad that she couldn’t even look at the light with “going to the ground” with the epileptic son.

Angela said watching Dee deteriorate was like seeing “this pixelated being slowly soaring into space with parts of her disintegrating in front of me.”

Whiteman, former Pfizer representative and consultant to the Mito Foundation in Australia, says it only takes one gene for a child to develop a disease linked to childhood dementia and that seeking a cure can be financially taxing and often ends in failure.

“For every thousand molecules that go through a laboratory – the discovery phase and the research phase – only one of these will be fully developed through clinical trials and in humans and will be marketed as a prescribed drug” , she explains. .

“But, when you think of rare diseases, you are potentially only going to prescribe them to 100 people around the world, if it is an ultra-rare disease, pharmaceuticals can never get that money back. “

Thousands of children around the world will die before they reach their twenties from childhood dementia.

The wasting disease affects about one in 60,000 children worldwide.

Childhood dementia expert Dr Ineka Whiteman said sun treatment can cost up to £ 422,000 per child per year

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Childhood dementia expert Dr Ineka Whiteman said sun treatment can cost up to £ 422,000 per child per year

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