February charity news – Action For A-T
“Hope for a cure keeps us going”
Joe Day, 39, from Kent reveals how much Action For A-T’s work means to his family
Being the youngest of three children, our six-year-old daughter, Lilly, is inspired by her siblings and talks about the future. She talks about marrying her friend Tom and asks if I will teach her how to drive, which forces me into a position where I have to lie to my little girl. Although Lilly is too young to understand, her mum Viviane and I know these things will probably not happen, and it’s heartbreaking to think Lilly’s life will be so different from what she imagines.
Viviane and I first became concerned about Lilly when she was two, as she was still wobbly when she walked. The staff at her nursery also noticed, so we decided to have it checked out. However, her paediatrician couldn’t find anything wrong and said it was something she would just grow out of.
In June 2012, a month after Lilly turned three, we moved to New Zealand. A member of staff at Lilly’s new nursery soon mentioned that her walking and motor skills didn’t seem quite as well developed as others her age. Viviane went on the internet and searched for ‘three-year-old girl with wobbly legs’.
An article popped up about a girl in the UK – the daughter of the founders of Action For A-T – who had a rare life-limiting condition called Ataxia Telangiectasia (A-T) and all the same symptoms as Lilly. It was the first time we had ever heard of the condition, but we knew it was what Lilly had. A-T is a recessive, genetic neurodegenerative disease that affects multiple body systems and causes severe disability. It can lead to immune deficiency, lung infections, difficulty of movement control, difficulty swallowing and a increased risk in developing cancers, particularly leukaemia and lymphoma. Life expectancy is currently just mid-20s.
As we were in New Zealand on work visas and had no medical care, we decided to return to the UK. The day after we landed, we headed for our GP with the name of this condition. But after a year of seeing the professionals, we still hadn’t received a diagnosis. Then, searching on the internet, I discovered there was a blood test for the condition, and in November 2013 Lilly was finally diagnosed with A-T.
In one way the diagnosis was a relief, as we could have gone on for years being told it was nothing. But we were utterly distraught to know she had this awful condition. Having researched A-T, I knew what it was capable of doing, so I was in a state of despair. How would we tell our four year old her life had turned upside down?
Lilly is incredibly positive and we try to make every second count. But we also worry about how her life is going to change. She has a wheelchair, although she doesn’t use it all the time, but I have to explain to her she’s going to need it more and more, as she still thinks she’ll get better.
It’ll be hard to watch Lilly deteriorate, to have to explain to her the full extent of her illness, and it’ll be hard when she can no longer do what she loves. We’re scared for what we’re going to have to face in the future.
Knowing there is a charity like Action For A-T, which is doing all it can to find a cure, is what keeps us going and gives us hope. I don’t know where we’d be without that. I believe there will be something that can be done for children like Lilly, it’s just a matter of time and money.
Action For A-T – THE FACTS
- Action for A-T was established in 2012 by parents whose young daughter was diagnosed with the rare childhood condition Ataxia Telangiectasia (A-T).
- A-T is a rare, neurodegenerative, inherited disease that affects parts of the body and causes severe disability. It is estimated to affect 1 in 400,000 children.
- The charity was established to speed up the process of identifying a cure for A-T or treatments that delay or prevent its disabling effects.
- Visit actionforat.org to find out more information.
BIG GIVE UPDATE
The money raised in The Candis Big Give will support research which could alleviate some or all of the symptoms of Ataxia Telangiectasia (A-T), a serious and life-limiting childhood disease for which there is currently no treatment.