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Thursday, November 5, 2015
Girl, 8, has rare condition that means she will lose ability to walk, talk and see
A little girl has an incredibly rare genetic disease that means she will eventually lost the ability to walk, talk, hear and even see.
Heartbreaking Maddison Crockford-Reid, from Portsmouth, was diagnosed with Sanfilippo Syndrome - MPSIIIC - six weeks ago after her family knew something wasn't right with her and thought she may have autism or ADHD.
The metabolism disorder - which is the result of a missing enzyme - means the eight-year-old is unable to properly break down long chains of sugar molecules called glycosaminoglycans in her body causing it to slow down and eventually stop.
It is an extremely rare condition which is only present in 1 in 70,000 births and the MPSIIIC strain of Mucopolysaccharidoses, which Maddi has, is only found in 4% of the cases worldwide - and only affects 1 in 1.5 million people.
Maddi's sister, Jorden Evans, 20, said: "At first we thought that she had autism because we noticed she was falling behind in class - she's a perfectly normal girl just a little bit slower than her friends in the classroom.
"It was such a shock when she was diagnosed with this disease we'd never heard of before - she had to have three different blood tests to confirm what it was and because it's so rare it was hard to understand.
"Since being told we've all had every possibility going through our heads about what could happen to her - when she comes to her final stages and loses all of her senses, will she even know we're there?
"It breaks my heart because she hates being alone as it is and really doesn't like the dark - She's such an active girl at the minute, hyperactive if anything, so it just doesn't seem real that this will happen to her - but unfortunately, it will."
Maddi lives at home with her mother, Shelly Reid, 43 and her father Spencer Crockford, also 43, whist Jorden is studying at the University of Sussex.
Because of the slowly degenerative condition, Maddi is unlikely to see the end of her teenage years and as it's so rare there is no government funding for the research or treatment.
Now that the family have received a diagnosis they have noticed things about Maddi that fit the description of it perfectly such as her long thick hair which is actually part of the disease.
They are doing the best they can to keep her active as otherwise her joints will get stiff and she has just been accepted into a special school where they will be able to focus more on her development.
The family are currently trying to get her to learn children's sign language as it is not clear when she will lose her hearing.
Jorden said: "Maddi can be aggressive with us but that's just because of her condition, if she hits you she won't know she's done anything wrong and will ask if you're still her best friend.
"It's heartbreaking because then you feel bad for it hurting you - you can never stay mad at her because she's just so sweet.
"She has an attention span of about eight minutes so it does get very tiring looking after her because she's so energetic and so hard to keep entertained - but that wont stop us from trying.
"But she's the happiest little girl you could ever come across, she's like a little ray of sunshine and she sees the best in everyone."
They would like to thank the MPS Society for all of the hard work and support they give to people suffering from the devastating disease.
They have been documenting Maddi's journey on social media using the hashtag #miracle4maddi and if you want to help raise funds for helping Maddi and finding research into the condition please visit their page at:https://www.gofundme.com/miracle4maddi