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Speaking publicly for the first time, Gus and Emily Forrester tell ITV News Health Correspondent Rebecca Barry about the need for more support and funding into their daughter Leni’s condition
Two-year-old Leni is described as “a bundle of energy” – a smiling toddler who loves to make people laugh.
Every new word she learns and every developmental milestone she reaches, brings her family immense joy.
But for her parents those moments are cruelly double-edged.
Because Gus and Emily Forrester know in the coming years they could watch their daughter gradually lose all her physical and cognitive abilities.
Leni has Sanfilippo disease, a rare genetic condition often described as childhood dementia.
“Every parent’s worst nightmare”
It has been five months since doctors delivered the devastating diagnosis.
“All your dreams for your child’s future are taken away,” Emily told ITV News.
“To be told that she has this condition, and there is no treatment and no cure and no support… it’s completely earth-shattering.
“It is every parent’s worst nightmare.”
Leni’s mother says early intervention is critical for children with Sanfilippo disease. Credit: ITV News/family handout
Without treatment, the disease will steadily damage their daughter’s brain cells.
“Every day that passes without treatment, this toxic waste is building up in our child’s body,” Emily said.
“If we can’t get treatment, she will suffer the most awful physical and mental decline you can imagine and then die in her early to mid-teens.”
What is Sanfilippo disease?
Sanfilippo disease is caused by an enzyme deficiency that prevents the body from breaking down certain molecules.
As those molecules accumulate, they cause progressive damage to the brain.
Although children appear healthy in early childhood, the irreversible damage usually begins around the age of three. Over time, affected children gradually lose the ability to talk, walk, eat and drink.
There is currently no cure and no approved treatment available in the UK.
Race against time
A clinical trial for a potential treatment is expected to begin in the United States later this year.
Leni’s parents are urging the government to help fund the research, so the trial could also include patients in the UK.
Her mother says early intervention is critical.
“Early treatment is key for these children. The damage cannot be reversed once it’s done,” she said.
“If she has to wait six months, that could mean she can no longer talk. If she waits 12 months, that could mean she loses the ability to walk.
“It’s extremely frustrating because the science is there. The data is there. It’s proven to be effective, and yet we cannot access it.”
Leni’s parents are frustrated by the lack of support and funding for her condition. Credit: ITV News/family handout
A potential gene therapy
Professor Brian Bigger, based at the University of Edinburgh, has developed a gene therapy approach aimed at tackling childhood dementia.
The method delivers a missing gene into patients’ blood stem cells.
But launching clinical trials requires significant funding.
“We’re racing against time,” he said. “She will start to lose brain cells and when that happens we’re not going to get them back.”
He added that government investment is vital.
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“Charities typically can’t fund this kind of thing,” he said. “It would be really good if we could see more commitment from government towards these kinds of therapies.
“There are hundreds of kids like Leni out there who don’t have any therapy, and these treatments have the potential to be transformative.”
He claims childhood dementia remains an overlooked issue.
“All of us have a family member who’s been affected by dementia. Childhood dementia is no different. It’s just much, much worse – because it’s your kid.”
Calls for screening and support
Childhood dementia affects around 240 children born in the UK each year.
Leni’s parents are calling for newborn screening to help detect rare genetic conditions earlier and for more funding to accelerate treatments.
“As parents, your role is to protect your children and provide every opportunity you can,” her father, Gus, said.
“Without any treatment, her future and her reality is very, very dark.”
“She is as valuable as any other child. But no one is fighting for her.” Credit: ITV News/Family handout
He argues that rare diseases collectively affect many families.
“When you group all these rare conditions together, they suddenly don’t become that rare. They affect a lot of people and a lot of families.”
For her mother, it feels like an unfair battle.
“We shouldn’t have to fight for our child’s life,” Emily said.
“She is as valuable as any other child. But no one is fighting for her.”
A Department of Health and Social Care spokesperson said: “Our thoughts are with all those living with dementia and rare conditions including Sanfilippo syndrome.
“We are making sure patients with rare diseases, like Sanfilippo syndrome, get a definite diagnosis faster, while improving access to specialist care, treatment and drugs.
“At the same time we are working hard to find new ways to slow down the progress of the dementia, speed up diagnosis and improve our understanding of the disease.”
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