About the Pompe Pages
Have you or your child been given a diagnosis of
Pompe disease? Are you a healthcare professional who has a patient
diagnosed with Pompe? If so, this page has an important message for you: You are not alone!
The diagnosis of a rare disease like Pompe can be a shattering and isolating experience for both patients and doctors. Thanks to the Internet, that need no longer be the case. Here you will find information on Pompe disease (acid maltase deficiency, glycogen storage disease type II), and links to information elsewhere on the web. The information here is presented with families and individuals in mind but may also be of use to medical and scientific students and professionals.
Aside from information, another thing that you may want is contact with other families and individuals. If you live in the UK, we can put you in touch with other members of the Pompe Group of the AGSD (UK) in your approximate area. If you are based elsewhere in the world, you can do this via the patients groups listed on the International Pompe Association website. Another way of making contact with others is via GSDNet, the glycogen storage disease mailing list. GSDNet covers all types of GSD but it is possible to restrict posts received to those concerning Pompe disease. Click on Global Network to learn more.
Remembering Professor Ed Wraith
To Celebrate the Life of Professor Ed Wraith
Wednesday 12th June 2013
12.30 pm – 1.15 pm At the Multi Faith Centre
Manchester Royal Infirmary, Manchester, UK
Prof. Ed Wraith died suddenly on the evening of 10th April 2013; he leaves his wife, Sue, and three children.
Ride for Pompe
"GSD Giant" Charity Cyclo-sportive. 44, 76 or 104 miles
Also 5-mile Family Fun Route, GSD Elf
Starting at Goodwood, West Sussex, on Saturday 10th August.
Alternatively you can support our Development Director, Allan Muir who's volunteered to cycle the 104 mile GSD Giant; you can sponsor him at: http://uk.virginmoneygiving.com/AllanMuir.
Hope in the Genes
Watch this YouTube video to understand the need for further research into Pompe disease
"Not just for Jesse"
Be a superhero for Jesse and kids just like him
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.
Mel says "we'd do anything for him to give him the best shot; we'd take him to Florida if it could be arranged". But arranging transport and medical care would be very difficult and risky for Jesse, and would be extremely expensive. A more promising approach being investigated is to bring the therapy to the UK.
To bring gene therapy to Europe in time for Jesse requires a study to be set up that would cost around £250,000. That would also allow other Pompe children like Jesse to experience its benefits. There are currently five children in the UK that are severely affected in this way and we need to do everything humanly possible to improve their quality of life, and equally important, that of the families who care for them.
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, most people have simply never ever heard of them.
If you would like to be a superhero, not just for Jesse, but for all the children like him, you can make a donation to the AGSD-UK; better still, why not join one of our fundraising events. We have a number of walking, cycling and zip-wire 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 at Goodwood each year (see above).
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