Family of girl, 6, with a rare form of childhood dementia that will cause her to forget how to walk or swallow hope to take her to Disneyland when Covid restrictions ease after raising £10,000

  • Penny Mills, six, from Stafford, Staffordshire, suffers from Sanfilippo syndrome
  • Caused her to forget words she used to know and will take away ability to walk
  • Family and friends raised £10,000 for trip and to buy Penny wheelchair for hikes

The family of a six-year-old girl who was tragically diagnosed with a form of childhood dementia are hoping to go to Disneyland following the lifting of Covid restrictions.

Penny Mills from Stafford, Staffordshire, suffers from the rare genetic disease Sanfilippo syndrome that has already caused her to forget the words she used to know. 

The youngster was diagnosed with the syndrome at the age of four following genetic tests after years of misdiagnoses from baffled doctors.

Her mother Kelly Mills, 42, a veterinary nurse, told how the cruel disease will eventually take away Penny’s ability to walk and even swallow.

The family of Penny Mills, six, who was tragically diagnosed with a form of childhood dementia are hoping to go to Disneyland following the lifting of Covid restrictions 

Kelly and her husband Andrew, 46, have taken Penny to Minnesota and Santiago to try to get her onto clinical trials, but she wasn’t accepted either time.

They are now hoping to be able to take Penny to Disneyland once Covid restrictions lift and to buy an all-terrain wheelchair so they can take her out on hikes.

Friends and family have raised £10,000 for the trip which they have been unable to take so far. 

Kelly said: ‘The doctor told me about how the disease damages cells, but he didn’t tell me that it was terminal.

Penny’s mother Kelly Mills, 42, a veterinary nurse, told how the disease will eventually take away her daughter’s ability even to walk and swallow

The youngster was diagnosed with the syndrome at the age of four following genetic tests after years of misdiagnoses from baffled doctors

‘He gave me a leaflet but didn’t know much about the condition and said the information might be out of date.

What is Sanfilippo syndrome?

Sanfilippo syndrome is metabolic disorder that is passed down through families. If both parents carry the defective gene, a child has a one in four chance of being affected. It is seen in about one in 70,000 births.

The syndrome makes the body unable to properly break down long chains of sugar molecules called glycosaminoglycans (formerly called mucopolysaccharides).

The syndrome causes significant neurological symptoms, including severe intellectual disability. IQs may be below 50.

Many who have it live into their teenage years, but experience deteriorating mental status and nerve damage that will leave them wheelchair bound.

There is currently no specific treatment for Sanfilippo syndrome.

Source: National Institute of Health

‘Once I’d dropped Penny at school, I read the leaflet and saw that it talked about palliative care. I drove to my mum’s and called the MPS Society which was referenced at the bottom, and they filled me in and have held my hand ever since.

‘I’d taken Penny for a genetic test thinking that if they discovered what was wrong with her, it could be treated. It hadn’t occurred to me we might be told she may not live beyond her teens.’

Penny’s initial symptoms included hearing and speech difficulties, repeated nasal infections, diarrhoea and learning delay.

Her adenoids were removed and she was fitted with grommets but neither helped her hearing or speech. 

She was also negatively tested for autism before reaching her true diagnosis.

Kelly added: ‘I’m very keen to raise awareness of Sanfilippo and other MPS diseases – if doctors don’t know about them, diagnosis is delayed and children don’t get help as early as possible.

‘Secondly, some clinical trials are happening around the world into MPS but they are largely funded by charities. 

‘We need more people to know about MPS for it to attract more research funding to help us find a cure for this terrible disease.’

Last week Penny’s school, Marshlands Special School, took part in Make in Blue Day, part of the MPS Society’s Awareness Week.

Family friend Kevin Abbott is also running the London Marathon to help raise funds for the charity.

A spokesman for MPS Society said families with children with rare diseases continue to face a difficult choice over whether to stop shielding and resume their life-changing treatments due to concerns over catching the virus.

They added that as lockdown restrictions are lifted further, families will make hard choices around returning to ‘normal’ despite the continued risks.

Kelly and her husband Andrew, 46, (pictured right) have taken Penny to Minnesota and Santiago to try to get her onto clinical trials, but she wasn’t accepted either time

 Kelly said she is very keen to raise awareness of Sanfilippo and other MPS diseases so that children – and their families – get the help the need

Bob Stevens, group chief executive for the MPS Society, said: ‘While choosing to shield and take treatment “holidays” has kept many of our young people safe, we know some of our children have suffered from tiredness and pain, while our families have felt isolated, with increased mental and emotional health concerns.

‘We also know that once our families feel confident enough to resume their lives, they will face longer waiting lists for referrals for diagnosis and treatment.

‘That’s why MPS Awareness Week is very important this year – our families have taken every step to protect themselves and now we want to make sure their quality of life is improved.

‘As the country opens up, we’re looking to raise money to support our charity’s work in raising awareness of these rare diseases to support and enhance these young lives.’

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