A teenager is in a ‘cruel race against time’ to find a cure for her rare motor neuron disease before it’s too late.
Maddi Thurgood, 16, from Ongar, Essex, is believed to be the only person in Great Britain, and one of only 20 people in the world, to have Spastic Paraplegia Gene 15 (SPG15).
The condition can lead to paralysis of the limbs, progressive brain abnormalities, and can also cause juvenile Parkinson’s disease with Maddi now unable to attend school as she is often left bed-bound for days on end by her debilitating illness.
Maddi’s family have travelled as far as Michigan and Washington to seek help but to no avail, and now they are launching a desperate appeal to fund pioneering research into the condition amid fears she is ‘running out of time’.
Rare disease: Maddi is believed to be the only person in Great Britain, and one of only 20 people in the world, to have Spastic Paraplegia Gene 15 (SPG15)
The teen discovered she had the complex wasting disorder, which has already begun to ravage her mobility, in May 2016 shortly before her 15th birthday.
There is currently no known cure for SPG 15, but Maddi’s medical team believe that gene therapy offers the greatest hope.
Scientists at Sheffield University of Neurosciences (SITRAN), are ready and willing to carry out research into the condition in an effort to find a cure, but the research comes with a hefty price tag of £224,000.
The family need to raise the huge sum to fund the research, and despite receiving a great response online they are still only half way to the required total.
Maddi’s mother Carina, 48, father Paul, 61, and siblings Alex, Tom and Harry are desperate to raise more money to fund the research, and have now launched a special Christmas appeal.
Maddi is now unable to attend school as she is often left bed-bound for days on end by her debilitating illness
Maddi’s family is launching a desperate appeal to fund pioneering research into the condition amid fears she is ‘running out of time’
‘It has completely taken over my life’: Mum Carina, 48 (centre) told MailOnline she is desperate to help find a cure for her daughter’s extremely rare condition
Carina says it is ‘distressing’ to see her daughter suffering and she dreams of Maddi being well enough to enjoy being 16 like every other teenager
Mum Carina told MailOnline: ‘I spend every single day researching in hope some miracle is going to happen soon to help [Maddi].
‘It has completely taken over my life and I can’t think of anything else. I feel that government funding is so limited that I decided to start a charity in hope we can raise more money and awareness to fund this crucial research to help find a cure for this horrible disease and those similar.
‘As Maddi is showing progression in her illness it is distressing to watch her suffering. At 16 she should be free to go and enjoy life to the full but already this disease is starting to destroy her future. Look at her lovely smile, I cannot bear to see it disappear.’
Running out of time: The teen discovered she had the complex wasting disorder, which has already begun to ravage her mobility, in May 2016 shortly before her 15th birthday
Maddi as a little girl. The teen is painfully aware of her condition and of the efforts her mum and dad, family and local community are making to try to help fund research for a cure
Speaking about her condition, Maddi told MailOnline: ‘I always try to smile. I keep trying and I keep smiling even when I am so sad inside’.
Maddi is studying animal care and loves to be surrounded by animals, but can only attend school three days a week as it leaves her exhausted.
She said: ‘I do find the practical days very hard. It is nice to be in the fresh air with the cows and sheep, rabbits, goats, chickens and baby guinea pigs.
‘But then at the end of school I am so tired, I just get into my pyjamas and rest on my bed or with my little dog Lulu.’
Maddi is studying animal care and loves to be surrounded by animals, but can only attend school three days a week as it leaves her exhausted
Brave: The teen is painfully aware of her condition and of the efforts her mum and dad, family and local community are making to try to help fund research for a cure
Speaking about her daughter’s diagnosis, Carina added: ‘When [Maddi] was 13 she starting walking with a very mild limp which was not very noticeable at the time, and when we saw our GP they put it down to a growing issue.
‘After many months of pursuing other specialists, she got referred to Great Ormond Street who then came to the conclusion she may have a lysosomal disease.
‘But after further tests and visits to more specialists it was found that she had a type of motor neurone disease which is caused by a faulty recessive gene passed from myself and her dad.
‘We were told that it is extremely rare and it appears that Maddi is the only one in the UK with this illness. To date there is no known cure.’
Maddi, like any other teenager is looking forward to Christmas but says the best gift this year would be donations towards her treatment
Maddi’s mother Carina and the rest of her family are desperate to raise more money to fund the research, and have now launched a special Christmas appeal
The brave teen has endured long stints hospital but is determined to remain positive, saying: ‘I get up so early and always go with hope in my heart to see if there is anything they can do to help me and to see if they have any more information.’
Maddi, like any other teenager is looking forward to Christmas but says the best gift this year would be donations towards her treatment.
To find out more about Maddi or to donate towards her treatment, visit facebook.com/SaveOurMaddiAppeal.