I’d never heard of A-T until earlier this year when I’d been invited to take part in a workshop for the A-T Society.
The workshop was entitled ‘Looking Good, Feeling Great’ for a very special group of people. It was part of the Society’s Annual Family Weekend. It was humbling to be inspired by so many amazing people.
What Is A-T?
Ataxia-Telangiectasia, (or A-T), is a rare and complex genetic disorder. A-T gives rise to increasing physical disability, while deficiencies in the immune system can lead to frequent colds and infections and the gradual emergence of lung problems. There is an increased risk of cancers, particularly leukaemia and lymphoma.
So who gets A-T?
A-T is caused by a defect, known as a ‘mutation’, on a particular gene, known as the ATM gene. A child born with mutations on both copies of the ATM gene cannot produce a protein, called the ATM protein, which is important in many processes in the body’s cells. The parents are unknowing carriers. When they both carry this mutation, the chances of a child developing the condition are 1 in 4.
How does A-T manifest itself?
Ataxia means that a child’s co-ordination may be impaired. Balance is affected and while they may be able to walk, they may often be wobbly and fall over. Increasing impairment means that many end up in a wheelchair.
Their speech and swallowing may also be affected. It can be hard to pronounce words and may struggle to eat. Deterioration may continue until they are about 10 years old.
They may also develop other symptoms such as involuntary spasms. Postural issues and spinal problems are also common. Then there is fatigue, suffered by many with A-T because the muscles are working so hard to compensate for co-ordination and balance problems.
There are different variants of A-T and sometimes people are not diagnosed until they are adults.
Looking Good, Feeling Great Workshop
Living with A-T has many challenges and the A-T Society does a fantastic job of supporting families and carers as well as those suffering from A-T.
So when I was asked if I would take part in the workshop I welcomed the opportunity to get involved. The idea of the workshop was to offer those living with A-T the chance to have a pampering session, culminating in a photo shoot as individuals, not defined by their condition.
I was offering colour analysis, so that everyone taking part learnt the best colours for them. Colour analysis has many benefits, not only does wearing the right colours make you look healthy but it also means people look directly into your eyes when you are communicating with them. Given how A-T impacts speech this is a massive help for those living with A-T. Many of the girls taking part love shopping and so they really appreciated the handbag-sized swatches they could take with them for their shopping trips.
Each participant then had a chance to have their hair and make up done, before joining Frances the photographer. Frances had set up a studio area so that she could take photographs of everyone as the amazing awesome people that they are.
As Saturday Approached
I don’t mind admitting that as the weekend drew closer I had a tight knot in my stomach. It was fear of the unknown mixed with a nervous excitement of being part of something incredibly special.
But my worries were unfounded and instead I found the whole experience to be amazing. It was great to have a small influence on someone’s life that will make a big difference to them.
As I worked with each of the participants I learned a little about their amazingly strong characters. I started to understand how despite their frustrations and challenges they really know how to ‘get on with life’. The stigmas they face from some people who simply don’t understand or are embarrassed.
One amazing woman is undertaking a Sky Dive later this year to raise money and more awareness for the charity. Another lady was telling me about her love of swimming and visits to the gym.
One young man was really excited about his forthcoming trip to Silverstone for the British Grand Prix. I learnt about special wheelchairs for dancing and trips to shopping centres.
There was a real upbeat energy in the room with lots of love and banter. Most of those attending (apart from those recently diagnosed) attend every year. They have fun and as one woman told me ‘it’s my opportunity to ‘feel normal’.
The A-T Society
The A-T Society is clearly held in very high regard by those living with A-T along with their families and carers. Not only does the Society offer support and practical advice, it tirelessly fundraises and commissions research. It is completely funded by grants and donations.
If you would like to find out more then visit the A-T Society’s website.