Save our Maddi

There are only 20 people in the world who suffer from the same condition as Maddi Thurgood.The 15 year-old from Ongar in Essex has a rare disease which is gradually paralysing her limbs and attacking her brain. She has only just been diagnosed so her family are now desperately trying to raise money to fund new research in America. Luke Hanrahan reports:

Posted by ITV London on Saturday, 20 May 2017

A few months ago Maddi was diagnosed with an extremely rare disease called SPG15 otherwise known as Spastic Paraplegia Gene 15. Unknown to us Maddi had been harbouring this condition until she reached 13 years old, at this point she started to struggle with walking.

SPG15 is classified as a motor neuron disease but it is very rare in fact at present it appears there is no one else in the UK with this and it is thought to be a possibility of less than 20 people in the world with this disease type. It is known to develop paralysis in all four limbs and also causing abnormalities in the brain. In addition if affects the peripheral nervous system impairing vision and hearing, it can also bring on early juvenile Parkinsonism. At present there is no cure!!

It is progressive autosomal recessive disease which means that both parents have passed on a mutation to the ZFYVE26 gene causing Spastic Paraplegia type 15.

The disease is taking hold and gradually disabling her legs as it progresses. We do not know the speed nor when and where it will end. We need to act quickly so we can stop destroying Maddis capabilities.

Save our Maddi is a non profit organisation which was started in 2016. The family have been searching across the globe to find some form of treatment and refuse to give up hope. The purpose of this organisation is to research and find a cure or treatment for SPG15. At present we have been given some hope for the future as Sheffield University of Neurosciences (SITRAN) have offered to research Maddis disease to hopefully produce a gene therapy strategy. This is great news for us, however we have to financial support this research program for a cure as Maddi is solely the only SPG15 patient in the U.K. at present.

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Every penny counts. Your generosity will fund vital research and treatment efforts in the hope of not only stopping progression of SPG15 but also finding a cure. This will open the doors hopefully to help other similar orphan diseases.
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✨ Last week was another trip to GOSH for Maddi, I was a little nervous on what was going to be talked about. It is clear there is more progression of this disease in her legs and it is also showing more in her arms and hands with weakness appearing.
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We have been on this journey for over a year now and it has changed our lives forever! Everyday we are still learning to accept this situation whilst we are facing this horrendous condition and not knowing which part of a Maddi it is going to try and claim next.
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With no cure we can only manage symptoms but they will not be fixed or repaired without some form of Gene Therapy or Miracle drug.
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Please do continue to support our campaign towards a CURE even if a donation of a £1 was made this goes a long way when we have many supporters. We are truly blessed to have you on our side. 💞
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***UPDATE***
Great news!! We are now officially a registered charity 💖 THE MADDI FOUNDATION so in the next few weeks their will be some gradual changes to our website to incorporate all the details for our new charity.
THE MADDI FOUNDATION will be dedicated to raising funds and awareness to help support the pioneering developments of gene therapy to address SPG15 and make other valuable discoveries that could impact other similar Spastic Paraplegia types.
Unfortunately with diseases as rare as SPG15 there is just not enough research or funding available to help.
Thank you for all your support everyone 💞💞
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A MASSIVE THANK YOU to Julie and Robin Currie and the kind generosity of their wonderful customers @barlacascada in Spain . They managed to open the heavy collection tin in their bar and counted out a whopping €600 towards #saveourmaddi .This will help towards our research for a cure into this awful disease #spg15 💞 ... See MoreSee Less

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Our lovely Maddi has been very tired lately and is struggling with her walking. It's affected her left leg particularly and she is back kneeing as she tries to walk. So with a call to Maddis Specialist in Michigan to discuss the situation now, he insists that she has got to keep building her strength physically while waiting for some form of treatment..
Recently hopes were raised with the possibility of trying a drug that is currently being used for another disease with nonsense mutations which Maddi has on her gene (SPG15) and is currently available on the NHS. This drug is designed to slow the process of a nonsense mutation disease by allowing more protein to travel through the gene by reading through the actual mutation.
Unfortunately since Maddi is a single case she is not able to try this as it has not been trialled on SPG15 before as there are not enough people out there to test it on. So how does a case like Maddis move forward as we need a solution right now to help slow the disease process? 😢
We can only hope that one day there will be a cure with Gene Therapy and all the hard works pays off in Sheffield.
Thank you for support and please continue to help in anyway you can. I refuse to give up!! 💜
#letsbeatSPG15
#keepdonatingtohelpMaddi
#donate

www.gofundme.com/saveourmaddi
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Save Our Maddi Appeal shared their event. ... See MoreSee Less

Only Fools and Horses Charity Comedy Dinner

October 14, 2017, 7:00pm - October 14, 2017, 11:00pm

Charity dinner show fundraising money for "Save Our Maddi" £45 per Ticket tables of 8 available Lovely Jubbly! We're delighted to be hosting a comedy dinner show to raise funds for local charity "Save Our Maddi". The Only Fools & Horses Comedy Dinner Show is an interactive theatre and dinner show where the audience dine in Del Boy's very own restaurant. The Show You will simply love this hilarious tribute featuring all of your favourite bits from the classic sitcom. There's everything from Batman and Robin to blow up dolls, from hooky goods to club singer, Tony Angelino's infamous performance of "Crying". Del Boy's up to his old tricks, Rodney's on the run from Damien, Trigger has lost his broom and Uncle Albert is desperate to sing his sea shanty. What happens on the night? The show begins in the bar over pre-dinner drinks, where the audience are greeted by the characters. Then, when the time comes, the audience are invited through into the restaurant where they are served a three course meal. The show is half-scripted and half-improvised by the actors, taking place around the audience whilst they eat. It references all the most famous bits from the original show whilst having a narrative all of its own. The Bar People will be serving your drinks for the evening and will also create a special themed cocktail for the night. After the show concludes a charity auction for "Save Our Maddi" will take place Save Our Maddi Appeal

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We now have our very own Save Our Maddi Instagram page.
Please give us a follow @save_our_maddi
Thank you for all your continued support 💗
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