The mum of a six-year-old girl with a rare genetic disease that has already made her forget her words has shared the heartbreaking moment she was told of the diagnosis.
Penny Mills, 6, suffers from the rare genetic disease Sanfilippo syndrome that has already caused her to forget the words she used to know and will eventually take away her ability even to walk and swallow.
Her family say they dream of taking her to Disneyland once Covid restrictions are lifted.
The youngster was diagnosed with the cruel syndrome at the age of four after genetic tests and years of misdiagnoses from baffled doctors.
Mum Kelly Mills, 42, 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“He gave me a leaflet but didn’t know much about the condition and said the information might be out of date.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.
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 MPS Society .
A spokesman for the charity 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 coronavirus.
They added that as lockdown restrictions are lifted further, families will make hard choices around returning to ‘normal’ despite the continued risks.