A mum has been warned her six-year-old daughter will forget how to walk and swallow as part of a devastating diagnosis.
Little Penny Mills has already started forgetting words she had previously learnt, as a result of Sanfilippo syndrome – a rare form of childhood dementia.
The youngster was diagnosed with the syndrome at the age of four following genetic tests after years of misdiagnoses from baffled doctors, BirminghamLive reports.
Mum Kelly Mills, 42, a veterinary nurse is now hoping to raise enough money to fund a familyDisneyland trip that will give poor Penny the time of her life.
Kelly from Stafford, said: “The doctor told me about how the disease damages cells, but he didn’t tell me that it was terminal.
"He gave me a leaflet but didn’t know much about the condition and said the information might be out of date.
"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.
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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.”
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 – friends and family have raised £10,000 for the trip which they have, as yet, been unable to take – and to buy an all-terrain wheelchair so they can take Penny out on hikes.
Family friend Kevin Abbott is running the London Marathon to help raise funds for the charity.
Anyone wishing to donate to MPS Society, please visit mpssociety.org.uk/donate-now or call their fundraising team on 0345 389 9901.
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