A devoted couple have vowed to “make beautiful memories" with the rainbow baby who arrived after her sister was stillborn at 36 weeks – only to be diagnosed with childhood dementia, meaning she will not live beyond her teens.
Little Penny Mills was developing slowly but surely and could say 150 words by the time she was four – starting with her 12-year-old brother Harry's name when she was 18 months old.
But her veterinary nurse mum Kelly, 40, and engineer dad Andrew, 44, have seen her vocabulary dwindle to 10 words – which no longer include Harry or mummy – as Sanfilippo syndrome has ravaged her memory.
Now, aged five, the rare genetic disease, which causes fatal brain damage, has started its deadly assault and will eventually mean she forgets how to speak, swallow and walk.
For Kelly and Andrew, who also has a son, Tyler, 19, from a previous relationship, the diagnosis has been particularly cruel, as Penny's arrival brought such hope, after a placental abruption – where the placenta separates from the uterus early – meant her sister, Milly, was stillborn in March 2013.
Kelly, of Stafford, in the West Midlands, who has taken evening classes in speech and language therapy to help Penny – known as a 'rainbow baby,' as she was born after a stillbirth – said: “That loss was devastating for the whole family."
“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 added.
“She was a chunky little thing and we all fell in love with her instantly."
Family life was great until Penny developed a snotty nose at six months old, which numerous courses of antibiotics failed to clear.
“We weren't too worried as babies do get infections at that age, but it was like a consistent green stream coming from her nose," Kelly continued.
“As she got older, she wasn't saying many words and was a late crawler, but we thought she was just a bit lazy, as we all fussed around her.
Aged two, Penny was still struggling with potty training. She did not seem to realise when her bowels were moving and had diarrhoea, which her parents later learned was symptomatic of Sanfilippo.
“With everything, we hoped there was a simple reason, but, deep down, Andrew and I suspected something more was going on," said Kelly.
“She behaved differently to other children her age. She didn't look like me or Andrew, or the boys either. There were only a few facial similarities."
It was after a family trip to a holiday camp in Cornwall, when Penny was two and struggled to communicate and play that she was referred to children's services, where she was assessed for learning disabilities, including autism, which 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," Kelly said.
“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," she added.
“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."
Kelly continued: “We just take each day as it comes. We've learned over the last five or six years that nothing's guaranteed in life."
A mucopolysaccharide (MPS) disease, Sanfilippo is a rare genetic condition characterised by a shortage of an enzyme which controls the toxic build-up of sugar in the body, according to the MPS Society.
Affecting one in 85,000 UK births, it is dubbed 'childhood dementia,' as it can cause severe degenerative neurological deterioration and progressive physical disability.
Kelly, who has also been supported by the Donna Louise Hospice in Stoke-on-Trent, continued, explained: “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 she 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."
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.
Her vocabulary has now virtually disappeared – going from 150 words when she was four to around 10 now. She still says 'dada' and 'dance,' over and over, but out of context.
Kelly continued: “She used to say 'mummy,' but I can't remember the last time I heard her say it."
Kelly said: “She has forgotten how to use toys, like a piggy bank, and puzzle games where you match things and she can't put her socks and shoes on anymore.
“She just looks confused. We show her how to do it over and over. Sometimes she will get it but we never know if she will be able to do it again tomorrow. She doesn't get frustrated, because she doesn't really understand what we are trying to do."
Luckily, she still recognises her parents, but they know this will not last.
“She still lights up when she sees us, so we don't think she has forgotten us yet, but we are prepared for that to happen," said Kelly. “It's one of our worst fears.
“It does take her time to remember people she's met before, so I have made her a book with pictures of the family in it. I sit down and go through it with her every day.
“Her brother's away at university and we Facetime him, so she remembers him."
Penny's family are determined to make as many memories as they can with her.
“When she gets to the end stage, I do not want to look back and think all I did was worry about the future," said Kelly. “We need to embrace the now.
“We went to Disneyland Paris just before Christmas and want to go to Disneyland Florida in 2021. She's also desperate to meet Mr Tumble from CBeebies."
“Penny's amazing, she lights up the room with her laughter. She's a happy little girl who loves to dance and we need to make the most of her while we can," Kelly added.
A spokeswoman for the MPS Society, which reached 1,500 families in 2019, said: “Every eight days, a baby born in the UK is diagnosed with an Mucopolysaccharide (MPS) or a related disease, rare genetic conditions which cause progressive physical disability and, in many cases, severe degenerative neurological deterioration.
“Our vision is for all people affected by our diseases to live the lives they want. Our mission is to transform lives through specialist knowledge, support, advocacy and research."
To find out more visit: www.mpssociety.org.uk and to donate towards the MPS Society in honor of Penny visit here.
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