2-Year-Old Girl Diagnosed with Rare Childhood Dementia, Dad Says 'Without Treatment Her Future Is Very, Very Dark'

Toddler Leni was diagnosed with Sanfilippo disease, a rare genetic condition often described as childhood dementia

NEED TO KNOW

• Gus and Emily Forrester’s 2-year-old daughter Leni, has been diagnosed with Sanfilippo Syndrome Type B, a condition also referred to as childhood dementia
• In a newly released interview, the parents appealed for help accessing treatment trials that could potentially save Leni’s life
• “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,” Emily told ITV News

A 2-year-old girl is at risk of losing all of her physical and cognitive abilities after being diagnosed with a rare genetic condition.

In an ITV News interview published on Monday, March 23, Gus and Emily Forrester described their daughter Leni’s Sanfilippo Syndrome Type B (MPSIIIB) diagnosis as “every parent's worst nightmare.” 

“Sanfilippo Syndrome — also known as Mucopolysaccharidosis type III or MPS III — is a terminal, neurodegenerative rare disease,” according to the Cure Sanfilippo Foundation. The non-profit organization states that children typically start showing signs of developmental delay between the ages of 1 and 6.

The condition, which has no FDA- approved treatment or cure, is often referred to as childhood dementia.

“All your dreams for your child's future are taken away,” Emily told ITV News of Leni’s diagnosis. “To be told that she has this condition, and there is no treatment and no cure and no support… It’s completely earth-shattering.”

Emily said that without treatment for the disease, her daughter’s body will gradually be flooded with “toxic waste.” She emphasised that the damage caused can’t be reversed. 

“Early treatment is key for these children,” Emily told ITV News, adding, “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,” she said.

Emily and Gus are appealing for U.K. patients to be included in a clinical trial for a potential treatment that is expected to take place in the U.S. later this year.

They have set up a fundraiser towards any potential treatments for Leni that may become available, as well as towards the cost of medical care that could improve her quality of life.

“We will also donate funds to Great Ormond Street Hospital, who are providing Leni with truly world-class care, and Cure Sanfilippo Foundation, who are the only charity dedicated to Sanfilippo Syndrome and has been a huge support for us and many other children and families,” they wrote on GoFundMe.

Over $250,000 has been donated at this time.

“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,” Emily said of Leni to ITV News.

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“As parents, your role is to protect your children and provide every opportunity you can,” Gus added. “Without any treatment, her future and her reality is very, very dark.”

Emily and Gus have set up an Instagram account dedicated to raising awareness of childhood dementia and connecting with parents who are in similar circumstances. They are also campaigning for newborn screenings that could help to detect rare genetic conditions earlier and additional funding towards treatments. 

University of Edinburgh Professor Brian Bigger, who has developed a gene therapy approach to the condition, said government investment is essential.

“Charities typically can’t fund this kind of thing,” he told ITV News. “It would be really good if we could see more commitment from the 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.”

Read the full article here