Saving Maddi!

Race Against Time for Essex Teen with Rare Life Threatening Condition - #SaveOurMaddi

Carina Thurgood mother of Essex teen Maddi has appealed today for much needed donations to help scientists find a cure for her daughter’s life threatening condition.

Just two days before her 15^th birthday, Maddi Thurgood’s family were called into Great Ormond Street Hospital and given the shattering news that Maddi had Krabbe disease, however weeks later it was discovered the teen had been misdiagnosed and actually had Spastic Paraplegia Type 15, SPG 15 an extremely rare, complex and progressive disorder which can lead to physical, intellectual disability and more. 

There is currently no cure for SPG 15 and Maddi’s Professor from Sheffield believes that The consensus of that meeting was that gene therapy offers the greatest potential for helping our children.  We have received a gene therapy proposal, which comes with a $2-3 million price tag. Rare disease research isn't cheap.

We need YOUR help to allow us to execute the plan and the time is NOW to act!  gene therapy offers the greatest hope of helping to find a cure for Maddi. However this critical gene therapy research at SheffieldUniversity of Neurosciences (SITRAN), comes with a hefty price tag of £224,000. So far the family has raised £124,000 with help from the local community but is still short £100,000.

Maddi’s mum is up against the clock, as this progressive disease has already begun to ravage Maddi’s mobility and so she launched The Maddi Foundation, a registered charity to fund Sheffield University’s research to produce a gene therapy strategy for Maddi’s life threatening illness.  

THE DEVASTATING DIAGNOSIS OF SPG15:

·      Spastic paraplegia Type 15 is a very rare type of motor neuron disease.

·      SPG 15 is classified as a complex hereditary spastic paraplegia because it can cause paralysis of all four limbs, mental retardation, dysarthria, retina degeneration, distal amyothropy as well as juvenile Parkinson’s.

·      In addition to the muscles and brain, SPG 15 affects the peripheral nervous system, which consists of nerves that connect the brain and spinal cord to muscles and sensory cells.

·      SPG15 is so rare that no one else in the UK has the disorder. It also appears that there are less than 20 people across the globe with the condition. 

·      Onset of the condition usually becomes apparent in childhood or adolescence with the development of weak muscle tone (hypotonia), difficulty walking, or intellectual disability.

MADDI’S STORY…

·      Maddi’s symptoms first started when her ankle collapsed when she was 13.  It was during this period that she began to develop a limp too.

·      Her muscle tone began deteriorating and an array of other symptoms including severe pain. 

·      Worried sick about her symptoms the family took her to lots of different specialists.  Maddi has had to endure an array of tests along the way including scans, blood work and a lumber puncture.

·      In 2016, Carina, Maddi’s mum was called in to Great Ormond Street Hospital without Maddi where she was initially told that Maddi had Krabbes disorder a life threatening illness which would require a bone marrow transplant.

·      Seeking a second opinion, Carina brought Maddi to the US to the Children’s Hospital of Pittsburgh of UPOMC, a world leading centre of excellence in the study of genetic disorders in children.  It was here that they received the life changing news that Maddi didn’t have Krabbes disorder she actually had a much rarer condition called SPG15.

A TYPICAL DAY IN MADDI’S LIFE

·      Maddi can no longer walk normally and can only stand for very short periods. 

·      When Maddi was first diagnosed one of the hardest things about her condition was that it meant she could no longer continue one of her favourite activities - ice skating.  She also had to give up drama, because movement had become too painful.

·      Just walking around the house requires a cane and if she was to go to the shopping centre, she needs to use her wheelchair.

·      Everyday her mother encourages her to keep exercising and keep her muscles going.

·      Maddi has a physical trainer who works with the muscle groups that are getting weaker, but the disease is stronger than her training.

·      Her legs get extremely painful and it makes her exhausted and so she misses out on a lot of school.

·      Despite her ordeal Maddi is not frightened about anything and she only cries when she falls over.

·      Maddi has been amazing through all of this and she tries to get on with it as much as she can. Obviously there are days when it gets her down, but overall she never complains or gives out.

·      She’s always happy to go to fundraisers and talk to people and is so thankful for everything everyone has done for her so far.

MADDI’S MUM…

·      “SPG15 is the rarest form of a rare disease.  It’s shocking we have never ever met another family with the same disease

·      Having to watch your child suffering is one thing, but when you know there is no treatment, no cure and you see changes that are slowly happening each day it is incredibly stressful.

·      If your child is the only one you feel incredibly isolated and completely on your own. 

·      Like so many families with a child that has a rare disease – everything is family driven; fighting to make progress.

·      I believe that something can be done and that Maddi can have a future and that things can be reversed. 

·      But we’re not fully funded and need urgent help.”

AMONGST THE RAREST OF LIFE THREATENING DISORDERS WORLDWIDE

·      Less than 20 people worldwide have SPG15; in fact it’s so rare that Maddi is the only person in the UK to have this disorder.

·      SPG15 and other rare diseases that only affect a handful of people are often referred to as ‘orphan diseases’. 

·      No pharmaceutical company is working on treatments and neither is the government which is why Carina Thurgood, Maddi’s mum is having to pound pavements to find a treatment that can save Maddi.

·      Carina Thurgood is constantly online researching doctors & scientists who have published medical research papers on SPG15, but as yet no cure has been found.

·      There is very little known about the condition, which is why Maddi’s mum and family have sought opinions and information from specialists in Spastic Paraplegia Type 15 from all over the world.

·      Maddi had been put on a short trial of levodopa (for Parkinsons) in November 2016 at Michigan Hospital but she had a severe anxiety reaction to this by Christmas and was weaned off the drug.

·      She’s in regular contact too with Maddi’s medical team as she attends Great Ormond Street, which is led by Dr Lucinda Carr a Consultant Paediatric Neurologist and Professor Nick Wood, who is based at UCL next door to Great Ormond Street. Prof Nick Wood’s chief interests are the genetic variants which contribute to nervous system function and dysfunction.

RESEARCH FOR A CURE FOR MADDI

· The gene therapy programme which lies at the Professor Mimoun Azzouz is at Sheffield Institute of Translational Neuroscience.

· Professor Azzouz and the team at SITRAN SITraN is focused on translational neuroscience; the goal of the research is to harness scientific developments emerging from experimental work in the laboratory and translate these insights into an effective gene therapy strategy for Maddi.

· So far, the Save Our Maddi Appeal has raised £124,000 but another £100,000 must be raised if the University of Sheffield is to continue researching the gene therapy which could unlock the search to find a cure for Maddi.

· After literally a worldwide search it’s a great feeling according to Maddi’s mum to know that there is a team of scientists at Sheffield University that care about what’s going on with Maddi and want to help.

Donate to the #SaveOurMaddi Fund here: http://www.saveourmaddi.co.uk/