A mother of an 11-year-old girl with a rare genetic disease has spoken about the charitable support she has received ahead of a community choir’s fundraising concert tonight.
Sing Rock will be taking to the stage at The Coach and Horses pub in Stevenage High Street this evening to raise funds for Niemann-Pick UK.
The cause was chosen as a choir member knows the family of Amy Doyle who has Niemann-Pick type C.
The genetically inherited disease causes quantities of fatty substances to build up in the brain and other major organs and means Amy has trouble with her balance and memory, and needs help with daily tasks such as showering and getting dressed.
Mum Joan said: “It’s been difficult. To begin with, it was harder for people to notice that Amy had the disease but as she’s grown older the symptoms have become more noticeable.
“We just live day by day, making sure she’s enjoying herself.
“Amy will try anything. She’s not as fast as others, but remains defiantly independent.”
Following Amy’s diagnosis at the age of one, the family have been supported by national charity Niemann-Pick UK, and Joan is indebted to the advice and help the organisation provides.
The family have attended days out, and Joan has regular phone calls with members of the charity when she needs advice.
“Niemann-Pick UK have always been there for us,” she said.
“Different people have different needs and the charity is very good to cater to what individuals require.”
More recently, Joan has started attending conferences which give her a chance to meet other parents and specialists.
She said: “The conferences the charity put on are brilliant and really informative.
“I only started going to conferences last year – I wasn’t ready at the time to go any sooner.”
The charity also offers medical trials in a bid to slow down the symptoms of the degenerative disease, something Amy is participating in.
Amy, who is a pupil at Stevenage’s St Vincent de Paul Catholic Primary School and will be moving to Lonsdale School in September, is attending hospital every two weeks for the trials, while she also has check-ups at Great Ormond Street Hospital in London.
In recognition of the charity’s work, Sing Rock decided to organise its latest concert in aid of Amy, as Joan is a close friend of one of the members.
Musician Samantha Griffiths who runs Sing Rock said: “We are always keen to support local charities. We always try and fundraise for somebody we know that could do with some support.”
Joan added: “I want to thank all my friends and family – they are always there when needed.
“I am so proud of my children who have been through a lot with lots of patience and help make Amy smile so much.”
About the fundraiser, she added:“I hope the gig will make people aware and understand that some diseases are not known but they still need help, with a big thank you to Sing Rock for their valued time and support.”
Entry for the Sing Rock gig – which kicks off at 8.30pm – is free, but members will be collecting for Niemann-Pick UK on the night. For more information about what the charity offers visit www.niemann-pick.org.uk.
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