Six months ago, Emily Forrester had no idea that behind her daughter Leni’s bright, infectious smile lay a life-changing battle.
The toddler showed no signs of illness – nothing to suggest anything was wrong. Yet hidden beneath that cheerful exterior was a devastating condition.
The first warning came when a close relative had a routine genetic test and discovered they carried the gene for Sanfilippo, a rare disorder that leads to childhood dementia.
Doctors reassured the family that it was highly unlikely Leni would be affected. Still, the test results were enough to prompt her parents to seek further genetic investigation for their daughter.
What followed was a heartbreaking shock. Just one week before her second birthday, Leni was diagnosed with Sanfilippo.
The genetic condition is caused by an enzyme deficiency that prevents the body from breaking down certain molecules, which leads to catastrophic brain damage. Children with the disease suffer loss of memory, speech, mobility, and premature death.
There is currently no cure and no approved treatment available in the UK.
Leni could be saved from this bleak and painful future if she receives critical treatment within the next six months, before she turns three.
“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,” Ms Forrester, said. “It is a race against time.”
Life-saving treatment for Leni and other children with the genetic disorder is out there; however, it is blocked by a lack of funding.
“Getting the treatment could completely change the trajectory of her life, and she could go on to live normally with no symptoms,” the devoted mother said.
“This condition is particularly cruel because children develop normally until around two or three years old. So you get a glimpse of what kind of person they would be life if all was normal. Then it gets ripped away from you in a 10-minute phone call where you get the most catastrophic diagnosis you can imagine.”
But a delay in treatment, or no treatment at all, will have a fatal outcome.
A clinical trial for a treatment is expected to begin in the United States later this year. Leni’s parents are calling for the government to help fund the research so UK patients can be included.
The treatment replaces the enzyme that children with Sanfilippo are missing by fitting a permanent port in their brains. The body is then flushed with the enzyme via this treatment weekly for the rest of her life, as the body cannot make the enzyme by itself.
The clinical trial for the treatment was previously run by Great Ormond Street Hospital in London for six years. It reached the final phases of trial with effective results, but it was then cut because of a lack of funding. Children on the trial who developed normally with the treatment went on to decline once the funding stopped.
Another option is a gene therapy treatment developed by UK-based Professor Brian Bigger. However, his research cannot reach clinical trials without significant funding.
The cost of funding the US clinical trial stands at £5.5 million. “For an individual, £5.5 million is a huge amount. But for a nation, it is not,” Ms Forrester said, as she called on the government to expand newborn screening to help detect rare genetic conditions earlier, and grant more funding to accelerate game-changing treatments.
Ms Forrester praised singerJesy Nelson for using her platform to raise significant awareness for Spinal Muscular Atrophy (SMA), which affects her twin daughters, Ocean Jade and Story Monroe, and meeting the health secretary, but said families without celebrity status struggle to get any response from senior politicians.
“Politicians should prioritise meeting families suffering with the genetic disorders, not only celebrities to get their screen time.”
“These children have been pushed to the side,” she added. “There is no support for the families, even though the impact of childhood dementia is the same as childhood cancer, there is a huge difference in research and funding.”
Bob Stevens, CEO of the MPS Society, a charity supporting people with Mucopolysaccharide Diseases, of which Sanfilippo is one, said he was promised a meeting with health secretary Wes Streeting last summer, but it was not upheld. Ms Forrester’s local MP, Laura Trott, has also requested a meeting with Mr Streeting, which has gone unanswered.
Mr Stevens said: “The UK currently screens for far fewer conditions than many comparable countries, meaning families are often diagnosed only after crucial time has been lost.
“There is no scientific reason that we cannot screen for many of these diseases, but we know it comes down to money.
“For conditions like MPS III, early diagnosis is essential as new therapies move closer to reality. If we treat early, then a far better outcome will be achieved for families.”
A Department of Health and Social Care spokesperson said: “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.”
Leni’s parents have set up a GoFundMe page to raise funds for Leni to access treatment and to raise awareness for Sanfilippo disease.
