Association for Glycogen Storage Disease, UK

Charity details

Registered address
c/o Crowe Clark Whitehill LLP,Black Country House, Rounds Green Road
Oldbury,West Midlands
B69 2DG

Phone
0300 123 2790

Email us

Visit our website

Charity number
1132271

"Not just for Jesse"

Trailer of Jesse's story on Vimeo

Three year-old Jesse loves two superheroes; one is Spider-Man whose image surrounds him at home, although his bedroom is furnished more like a paediatric intensive care unit (PICU) than a child's playroom. Jesse imagines the multitude of wires and tubes that connect him to his life-support to be his own silken threads spinning a magical web of life. The other real-life superhero is his mum, Mel; he communicates with her by the slightest arm movement or flick of his eyes; it's a most intimate relationship and so incredibly touching to witness. 

Jesse is a three-year old boy, but he won't ever walk like a toddler, he suffers from a very rare genetic condition called Pompe disease. This is the same disease that featured in a 2010 Hollywood film starring Harrison Ford, "Extraordinary Measures". In his short life Jesse died at least once in his hospital's PICU, and he was left totally dependent on others for his care, he can't walk or talk and he most probably never will. Jesse takes it all in his stride though - "after his lungs collapsed and he flat-lined in hospital he eventually came back to us, he was pushing me away to stop me fussing over him because I was just loving him up!" said Mel. 

Pompe disease is a muscle wasting disease that is most aggressive in infants; the decline is rapid and would lead to death in the first year if left untreated. The condition affects every cell in his small body, but the effects are most profound in his heart and muscles. Fortunately a treatment for Pompe disease was licensed in 2006 which works very well for infants if diagnosed soon enough. For Jesse the drug has managed to keep him alive, but only just; at four months old his diagnosis was just too late for him. He is left hanging onto life by a gossamer thread, fed through a tube into his stomach and breathing under the control of a ventilator via a tracheostomy (tube into his windpipe). 

It seems so unjust that Jesse should be afflicted by such a cruel condition, but new treatments are currently being investigated that hold great promise for children like him. In particular, Gene Therapy has helped a boy in Florida breathe again on his own for nearly three hours, rather than the fleeting eight minutes he could withstand before the therapy. This is an astonishing improvement in quality of life; his personal care is so much less complicated and he can now be taken to the park or on car journeys without the heavy and cumbersome support equipment, and he isn't hooked up to a machine by the throat all the time.

The AGSD-UK is a charity that supports families living with Pompe disease and we are constantly looking for ways to help these children improve their lives. We would love to be able to fund research into treatments and better care for those we support, but raising £250,000 is a super-human challenge for such rare conditions, too rare for most people to have ever heard of them.

If you would like to be a superhero, not just for Jesse, but for all the children like him, please make a donation to the AGSD-UK; better still, why not join one of our fundraising events. We have a number of walking or cycling events posted on our main website (www.agsd.org.uk) and we are keen to recruit cyclists for our annual charity bike ride to be held in the autumn each year:

"GSD Giant" 

Charity Cyclo-Sportive. 50km, 100km or 100 miles

Please help us, not just for Jesse, but for all the kids and their Super-heroes that suffer each day with Pompe disease.

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