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 15th 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.
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/
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