Parents vow to make beautiful memories after five-year-old diagnosed with rare dementia

A couple have vowed to ‘make beautiful memories’ after their young daughter was diagnosed with childhood dementia, meaning she will not live beyond her teens.

Kelly and Andrew Mills, from Stafford, West Midlands, have been forced to watch as their daughter slowly forgets how to say the few words she has learned in her short life.

At four years old, Penny could say 150 words, but just a year later she can now say only 10. She’s forgotten how to say ‘mummy’ and the name of her 12-year-old brother Harry.

The rare form of childhood dementia – Sanfilippo syndrome – has ravaged her memory. The genetic disease causes fatal brain damage, and will cause Penny to forget how to swallow and walk.

Penny’s parents noticed something might be wrong when she was struggling with potty training at two. She did not seem to realise when her bowels were moving and had diarrhoea.

Penny was referred to children’s services after struggling to communicate and play with other children, but learning disabilities, including autism, were ruled out.

As her hearing was also weak, aged three, she was fitted with hearing aids which seemed to help.

But with no diagnosis, she was sent for genetic testing, in September 2018, aged four, and was diagnosed with Sanfilippo syndrome.

‘It was a complete shock. They said it was a rare condition and gave me a leaflet about it,’ says Kelly.

‘The first thing I saw was “palliative care”. We thought it would be life-limiting, but had no idea it was terminal. We were devastated.

‘I walked Penny into school that day and broke down in tears.

‘The average life expectancy is 15, but there’s quite a big range. Some children die much younger and there are some young adults with Sanfilippo.

‘We just take each day as it comes. We’ve learned over the last five or six years that nothing’s guaranteed in life.’

Sanfilippo is a mucopolysaccharide (MPS) disease characterised by a shortage of an enzyme which controls the toxic build-up of sugar in the body, according to the MPS Society.

It affects one in 85,000 UK births and is known as ‘childhood dementia,’ as it can cause severe degenerative neurological deterioration and progressive physical disability.

The diagnosis was a blow for parents Kelly and Andrew, as Penny’s birth had been a cause for celebration after her sister Milly was stillborn in 2013.

‘That loss was devastating for the whole family,’ explains Kelly.

‘Discovering I was pregnant with Penny nine months later, I felt extremely lucky. Then, finding out she was a little girl, too – we felt so grateful.

‘She was a chunky little thing and we all fell in love with her instantly.’

Kelly adds: ‘There are three stages to the disease. First comes delayed learning. The second stage, which we’re in now, is the hyperactivity stage, so she is often awake for three or four hours a night.’

The third stage is when sufferers really start to slow down. It is different for every child, but Penny will start to lose mobility and will eventually forget how to swallow, so will need a feeding tube.

‘It’s like we are grieving for our little girl, as we watch this cruel disease rob her of everything she knows,’ says Kelly.

In October last year, the family noticed her vocabulary had started to go, with her forgetting words she had once known like cheese, chocolate and biscuits, and her brothers’ names.

Around the same time she also stopped using a fork and started eating with her hands.

‘She used to say “mummy,” but I can’t remember the last time I heard her say it,’ says Kelly.