A mother has revealed the heartbreaking moment she realised her young son could have a rare and life-limiting genetic condition, after months of worrying about his development.
Beth Gordon's two-year-old son, Kole, was diagnosed with Sanfilippo syndrome type A in April 2026, a devastating condition sometimes referred to as childhood dementia.
The disease progressively damages the brain, meaning affected children can eventually lose abilities they have spent years developing.
For Beth, the diagnosis came after a long period of uncertainty, repeated medical appointments and a growing feeling that something was wrong.
Now, the family is hoping to raise £2 million to help Kole access a newly approved gene therapy in the United States before the condition progresses further.
The moment Beth realised what might be happening to her son
Beth explained that she first suspected Kole had Sanfilippo syndrome after unexpectedly coming across a video on TikTok.
The video featured a young American girl living with the rare condition.
As Beth watched, she was struck by similarities between the little girl and her own son.
She recognised several physical characteristics, including the shape of the child's head, eyebrows, nose and mouth.
Speaking to UNILAD, Beth recalled thinking that the little girl looked remarkably similar to Kole.
She had never previously heard of Sanfilippo syndrome, so she began researching the condition online.
What she discovered left her devastated.
After reading about the disease, Beth called her mother in tears, convinced that she had finally found an explanation for the difficulties Kole had been experiencing.
Her suspicions were later confirmed through genetic testing.
Kole was diagnosed with Sanfilippo syndrome type A, also known as mucopolysaccharidosis type IIIA or MPS IIIA.
Although a social media video prompted Beth to seek answers, the diagnosis itself required medical investigation and genetic confirmation.
What were the first symptoms Kole experienced?
Beth's concerns began when Kole was just six weeks old.
During a routine medical appointment, she noticed that her son's head appeared unusually floppy when a doctor examined his reflexes.
She questioned whether this was normal, but was reassured that his neck muscles might simply need more time to develop.
However, the issue persisted.
Beth explained that she continued needing to support Kole's neck when holding and winding him, even as he grew older.
His family also noticed that his head appeared larger than expected.
Initially, Beth did not find this particularly alarming because she had also had a large head as a baby.
But during a later hospital appointment, a nurse suggested further investigation.
When Kole was approximately six months old, doctors arranged an MRI scan.
He was diagnosed with benign enlargement of the subarachnoid spaces, commonly known as BESS.
This condition involves additional cerebrospinal fluid around the brain and is often self-limiting in infants.
Doctors reassured the family that his head size could become more proportionate as he grew.
However, Beth remained concerned about his overall development.
Developmental delays led to further testing
As Kole grew older, he continued to reach developmental milestones later than expected.
One significant concern was his mobility.
According to Beth, Kole did not begin walking until he was approximately 19 months old.
He also experienced delays affecting his speech and hearing.
Although developmental delays can have many causes, Beth felt that the combination of difficulties warranted further investigation.
She continued asking medical professionals for answers.
Eventually, genetic testing was suggested.
It was around this period that Beth encountered the TikTok video that led her to research Sanfilippo syndrome.
When the test results arrived, they confirmed the condition she had feared.
What is Sanfilippo syndrome?
Sanfilippo syndrome is a rare inherited metabolic disorder caused by the body's inability to break down certain complex sugar molecules properly.
These molecules, known as heparan sulfate, gradually accumulate inside cells and cause progressive damage.
The condition particularly affects the brain and nervous system.
There are several forms of Sanfilippo syndrome, each associated with a different enzyme deficiency.
Kole has type A, which is caused by a deficiency of the enzyme sulfamidase.
Without enough of this enzyme, harmful material builds up in the body's cells.
Over time, this can lead to significant neurological deterioration.
Children may initially continue learning and developing before eventually experiencing a plateau and losing previously acquired skills.
Because of this progressive decline, Sanfilippo syndrome is sometimes described as a form of childhood dementia.
What are the warning signs of Sanfilippo syndrome?
According to Cleveland Clinic, symptoms commonly become apparent between the ages of one and four, although some developmental differences can be noticed earlier.
Possible signs include:
As the disease progresses, affected children can experience worsening difficulties with speech, movement, learning and memory.
Some may develop seizures, problems with mobility and other serious complications.
However, these symptoms are not specific to Sanfilippo syndrome and can occur in many other conditions.
Children developing later than expected do not necessarily have a serious genetic disorder.
Parents concerned about their child's development should seek an assessment from an appropriate healthcare professional rather than relying on online comparisons.
Why is Sanfilippo syndrome called childhood dementia?
The term childhood dementia refers to a group of conditions that cause progressive loss of cognitive abilities in children.
Unlike developmental delay alone, these disorders can cause children to lose skills they have already learned.
Sanfilippo syndrome is one of the conditions included within this broader category.
As the disease damages the nervous system, children may lose their ability to communicate, walk independently or perform everyday activities.
The progression varies between individuals, but severe forms can significantly shorten life expectancy.
According to the Sanfilippo Children's Foundation, many affected children do not survive into adulthood.
For Kole's family, the possibility of losing the abilities he is currently developing has made the search for treatment particularly urgent.
Family races to raise £2 million for treatment
Beth and her family are now fundraising to help Kole access a newly approved gene therapy in the United States.
The treatment, called Fayuvi, was approved by the US Food and Drug Administration in September 2026 for eligible patients with Sanfilippo syndrome type A.
It is designed to address the underlying enzyme deficiency associated with the condition.
However, the treatment is not currently available through routine NHS care in the UK.
Beth fears that waiting for a potential UK approval could mean Kole misses a crucial opportunity for early intervention.
The family hopes to raise approximately £2 million, equivalent to around $2.6 million, towards accessing treatment.
According to Reuters, the treatment's manufacturer, Ultragenyx Pharmaceutical, has set a US price of approximately $3.95 million.
Beth has explained that the family has not yet received a final individual treatment quote.
The fundraising target therefore represents an initial goal rather than a confirmed total treatment bill.
How does the new gene therapy work?
Fayuvi is a one-time intravenous gene therapy designed to deliver a functioning copy of the SGSH gene into a patient's cells.
Sanfilippo syndrome type A occurs when changes in this gene prevent the body from producing sufficient functional sulfamidase.
The treatment uses a modified, non-infectious viral vector to transport the working gene.
The aim is to enable cells to produce the missing enzyme and improve their ability to break down accumulated heparan sulfate.
By addressing the underlying enzyme deficiency, researchers hope to slow the progression of neurological damage.
According to the FDA's September 2026 announcement, evaluations found that treated children aged between two and five maintained or improved cognitive function compared with an untreated historical comparison group.
These findings are encouraging, but they do not establish that every treated child will avoid progression or experience a normal life expectancy.
Long-term outcomes, individual treatment responses and potential risks remain important considerations.
Why time is so important for Kole
Beth believes that accessing treatment before Kole experiences significant neurological regression could make an enormous difference to his future.
She explained that although her son has global developmental delay, he continues learning new things.
He has not yet experienced the loss of previously acquired abilities that can occur as Sanfilippo syndrome progresses.
Her concern is that this could change as he gets older.
Children with the condition may begin losing skills during early childhood, often between the ages of three and six, although progression varies.
Beth hopes that intervening before this happens will give Kole the best possible chance of preserving his development.
However, treatment cannot be assumed to reverse existing neurological damage or guarantee that progression will stop completely.
Mum fears son may not reach his 15th birthday
Speaking about the potential consequences of the condition, Beth described the frightening uncertainty surrounding her son's future.
She said that without treatment, Kole could face a life expectancy extending only into his mid-teens.
Although survival varies considerably between patients, severe Sanfilippo syndrome can be life-limiting.
Beth hopes the new therapy will give Kole the opportunity to continue developing and enjoy a longer, healthier life.
For now, the family is focused on raising the money needed to explore access to treatment as quickly as possible.
They are also continuing to share Kole's experiences publicly to raise awareness of the rare condition.
How can people support Kole's family?
Beth has established a fundraising campaign to help cover the costs associated with pursuing treatment for Kole.
Supporters can follow updates through the family's social media accounts, including the Facebook and TikTok pages called Kole's Fight.
The family has also launched a GoFundMe campaign to support its fundraising efforts.
Those wishing to contribute should use the verified campaign linked through the family's official pages.
Beyond fundraising, Beth hopes sharing Kole's story will encourage greater awareness of Sanfilippo syndrome and the importance of investigating persistent developmental concerns.
For the family, the coming months represent a race against time as they work towards giving Kole the best possible chance of accessing treatment.
Source: UNILAD interview with Beth Gordon, published October 17, 2026. Additional medical information attributed to Cleveland Clinic, the Sanfilippo Children's Foundation and the US Food and Drug Administration, as reported in the supplied coverage.
