Wear it Blue Day – Twelve-year-old Canterbury boy with rare disease raises £4000 for charity
Twelve-year-old Ethan from Canterbury, Kent has raised almost £4,000 for the MPS Society and Great Ormond Street Hospital (GOSH) by walking over 100km in the month leading up to this week’s MPS Society Wear it Blue Day – part of the charity’s awareness week.
100km is the exact distance between where Ethan lives in Canterbury and GOSH where he receives regular treatment for the rare and incurable genetic disease Mucopolysaccharidosis type VI also known as Maroteaux-Lamy Syndrome.
Ethan’s family has raised over £40,000 over the past nine years, starting from the very first Wear Blue day which was later adopted by the charity as Wear it Blue.
The family are currently trying to raise the £15,000 needed to take him to Italy to take part in a ground breaking trial which is searching for a cure.
MPS and related diseases are progressive, degenerative syndromes that are life limiting. Most children are born seemingly normal but symptoms generally start to show between the ages of 2 and 4.
MPS sufferers are missing specific enzymes that break down glycosaminoglycans (GAGs) in the body and as a result they store these GAGs in every cell causing progressive damage. There is currently no cure for MPS.
Ethan’s mum Katrina AGE said: “As you can see by his photos, Ethan is an amazing, strong and beautiful little boy. He is full of life, love and laughter and our fight is to keep him that way for as long as possible.
“He is under the lifetime care of Great Ormond Street Hospital and undergoes a weekly treatment of Enzyme Replacement Therapy by intravenous infusion, which we hope will at least slow down the progression of this disease.
“He already has damage to his limbs, heart, spine, skeleton, neck, airway, eyes and ears as well as having limited mobility and a shortened stature. He has had numerous surgeries and is due to have many more. We believe all of these medical interventions will have a positive impact on Ethan’s day to day life.
“If it wasn’t for both the MPS Society, their support and research funding, and GOSH and the weekly treatment Ethan has, his life, health and future would be very different.
“In all of this Ethan stands defiant. He is mildly aware of his condition but endures treatments, surgeries and other medical interventions with such courage. He gets upset and frightened of course but with lots of encouragement, love and reassurance from his mum, dad and his little sister and brother, he soon comes round.
“He is the bravest little boy and he inspires us every moment of every day. He gives us something to live and fight for and he is our little warrior.”
“A clinical trial is taking place in Italy and the medical research team have invited Ethan out there to be screened to take part in this trial with a view to potentially include him in the 2nd phase of the trial.
“Our dream of saving Ethan from this disease is within our reach but we will have to fund a four to six-month period in Italy, as well as regular periods out there over a number of years following the trial, in order to give him this chance and we need financial support to do this.
“Every penny counts, no matter how big or small and we are so utterly grateful for your generosity.
“We have a very rare chance to cure our son’s rare disease and we are one step closer to giving him the future we have only been able to dream about until now.
“Please join us on Friday 15th May in our Wear Blue Day for Ethan event by wearing something blue and posting it to the event page on Facebook facebook.com/events/s/wear-blue-day-for-ethan-2020/284743262546571/?ti=icl“
Families with children with rare diseases continue to face a difficult choice over whether to stop shielding and resume their life-changing treatments due to concerns over catching the virus.
For many children, shielding has led to anxiety and loneliness, while treatment ‘holidays’ have meant increased pain and fatigue. As lockdown restrictions are lifted further on 17 May, their families will make hard choices around returning to ‘normal’ despite the continued risks.
Katrina said: “With the exception of around six weeks in September and October, Ethan has been shielding and therefore home schooling since March 13 and has only recently made the difficult decision to return to school in mid-April.”
“During this period he missed the latter half of his final year at primary school and has missed all but six weeks of this first experience of secondary school. A difficult choice but one which to be made to keep him safe,” Katrina added.
This MPS Awareness Week, from 10 to 16 May, the MPS Society which supports 1,500 families with rare diseases in the UK, is raising awareness of the conditions and is asking for donations to help give children earlier diagnoses and access to better treatment.
Bob Stevens, Group Chief Executive for the MPS Society, said: “While choosing to shield and take treatment ‘holidays’ has kept many of our young people safe, we know some of our children have suffered from tiredness and pain, while our families have felt isolated, with increased mental and emotional health concerns.
“We also know that once our families feel confident enough to resume their lives, they will face longer waiting lists for referrals for diagnosis and treatment.
“That’s why MPS Awareness Week is very important this year – our families have taken every step to protect themselves and now we want to make sure their quality of life is improved.
“As the country opens up further on 17 May, we’re looking to raise money to support our charity’s work in raising awareness of these rare diseases to support and enhance these young lives.”
MPS (Mucopolysaccharide) diseases are a family of rare, life-limiting lysosomal storage disorders that can affect both children and adults. It is estimated that nearly 6% of the UK population (around 3.5 million people) will be affected by a rare disease at some point in their lives.
The charity is encouraging everyone to donate and spread awareness of MPS and their services as much as possible, through word of mouth or by using #MPSAwareness and #EverybodyIn on social media. More information can be found at: mpssociety.org.uk/awareness-week.
If you wish to donate to MPS Society, please visit mpssociety.org.uk/donate-now or call their Fundraising team on 0345 389 9901.