Feature: Harpenden charity tirelessly working to support people with rare genetic illness
PUBLISHED: 10:00 20 November 2018 | UPDATED: 09:13 21 November 2018
A small Harpenden charity is working tirelessly to support children all over the world with a rare and life limiting disease.
The A-T Society is the only charity in the UK supporting families of people with ataxia-telangiectasia - a genetic condition with an average life expectancy of just 26 years old.
This genetic condition only occurs in babies with two parents unwittingly carrying a faulty gene, and even then there is only a one in four chance.
Usually presenting for the first time in toddlers, symptoms include slurred speech, difficulty swallowing, very slow eye movements, and an increased risk of cancer.
By 10 children are usually in a wheelchair and by 16 they are becoming ever more dependant on their families.
Five-year-old Winston Pemberton Powell has been supported by the charity since his diagnosis at three years old. He is one of only about 180 cases currently in the UK.
His mum, Sarah Pemberton Powell, said: “The A-T Society has been there for us every step of the way as we try to come to terms with our son’s condition and what it means for his future.
“Aside from all the emotional and practical support the A-T Society have given us over the last few years, we would not have been able to afford to provide Winston with everything he needs without them.
“It is difficult to overstate how challenging it is to navigate both the welfare and social care systems in the UK and I do not know where we would be without the support of the A-T Society.”
Founded in 1989, the A-T Society works together with medical professionals and schools to guide the families which contact them for help.
Some of these families have stumbled on the charity’s website after doctors are unable to provide a diagnosis.
Community and events fundraiser at the A-T Society, Sarah Ajder, said: “Our work is important because in addition to research we provide a unique lifeline of practical help, information and advice to families who would not know where to turn without it.
“The difference we make to those families is indispensable and time and again they tell us they don’t know how they would cope without the A-T Society.”
Holding annual Family Weekends, the charity welcomes a range of medical specialists from psychologists, physiotherapists, neurologists, dieticians and researchers to speak about the condition and progress being made in research.
Communications officer Kate Mceleney said: “Our annual Family Weekends are invaluable because it’s the only time our families feel ‘normal’, they don’t have to explain, everyone knows what it’s like to live with A-T. It’s a rare chance for them to offload, have fun and support each other.
“We provide hope. There is currently no cure but by funding researchers working to find new treatments and ultimately a cure we help people live well with A-T and give them hope for a brighter future. A diagnosis of A-T is devastating, a family’s world falls apart. We give them something to hang onto.
“Our research is bringing better treatments and that means better lives for people with A-T.”
She said the charity avoid words like “sufferers” because of the negative connotations that brings to people living with A-T.
The A-T Society hold fundraising events throughout the year - there is a Christmas Music Celebration with singer and conductor Peter Knapp on December 13 from 7.30pm at Rothamsted Conference Centre.
Tickets, which include a welcome drink, are £20. They are available at 01582 711794.
Volunteers are also needed to join a team of collectors accompanying the St Albans Round Table Santa Sleigh.
Participants follow Father Christmas around the city knocking on doors and asking for donations.
It will take place from 6.15pm to 9pm on December 14. Call 01582 760733 or email firstname.lastname@example.org to get involved.
Elizabeth Arden is holding a pamper party in aid of the A-T Society in Boots on St Peter’s Street on November 20 from 7pm to 9pm.
There will be expert skincare and markup demonstrations, beauty hints and tips, special offers, a raffle and refreshments.
Tickets for this event are £5 from 01582 760733.
Find out more about the charity and donate to the A-T Society at www.atsociety.org.uk/