Joe's Pain as Daughter Lilly, 4, Is Diagnosed With Rare Disease (AT)

A DAD has described the devastating moment a year's worth of intensive research was proved correct – that it is unlikely his daughter will live beyond her teens.

Joe Day was convinced that four-year-old Lilly had Ataxia telangiectasia (AT), an extremely rare terminal disease that doctors find hard to diagnose.

On November 5, his family's worst fears were confirmed.

Mr Day, 37, a team leader at Rent4Sure in Whitfield, said: "I've spent the last week having nightmares. It still feels very surreal now, dream-like.

"My life has been changed forever. It will be spent as a carer for my daughter.

"She will never have a boyfriend or a social life. In the next few years she'll be wheelchair-bound and lose all use of muscles.

"It will lead to a premature death. Most people who are diagnosed don't live beyond their teens. It's horrendous. I'm devastated."

Lilly is only the ninth person in the UK to be diagnosed with this particular strain of AT – known as MR-E11. Mr Day explained why the disease is so uncommon.

He said: "It's particularly horrific because it's so rare – it doesn't have the same kind of funding as other conditions.

"The only way it can come about is if two people come together with the same mutated gene.

"The chance of me and my wife Viviane meeting is so small. She's from the South of France. You would have more chance of winning the lottery."

The couple now face a painful two-month wait to find out if their daughter Melissa, nine, also has AT.

Mr Day, of Lydia Road, Deal, told the Express that Lilly had "always been a bit wobbly on her legs".

He took his daughter to a paediatrician when she was two but the doctor could find nothing wrong with her.

Last year, Mr Day and his young family emigrated to New Zealand to start a new life.

But when Lilly was at nursery, a member of staff again commented on the youngster's "wobbliness".

At this point Mr Day threw himself into finding out what was wrong with his little girl.

He and his wife discovered a young girl in East Sussex who had the same symptoms as Lilly. From this point he was convinced his daughter had AT. The family moved back to Britain due to the financial strain of treating Lilly's condition in New Zealand.

And on bonfire night a "world renowned" expert finally confirmed the diagnosis.

Mr Day said: "I was angry towards my paediatrician. I've lost a year of Lilly's life."

The turmoil of the last few weeks for the family is impossible to imagine. But Mr Day was back at work when he spoke to the Express last week.

He said: "The reason I seem quite calm is partly because if I don't retain some sense of normality then I'll probably fold.

"As a father I've a duty to stay as strong as I can. It's the only way I get by."

Mr Day has changed his diet and shed three stone in recent weeks as he trains to run the Brighton Marathon to raise money for Ataxia UK.

He said: "I want to try and have as much of a positive outcome of the inevitable as I can. Ultimately, I've got to commit my life to raising awareness of AT. Lilly's life will be short. To what extent we don't know. For me, I'm thinking about other things. I'm living in hope."

The Express caught up with Joe and Lilly at a fundraiser held at The Cricketers pub in River on Saturday. If you want to sponsor Mr Day in his bid to raise £3,000 to run the Brighton Marathon, visit

So sad and makes it so important to donate to ataxia uk 2020 vision. As a dad my heart goes out to the guy

Ataxia is a "life limiting" it is very frustrating and worrying plus very stressful

Ataxia is Ataxia and we all are aiming to the same goal.

I think there may be some confusion/crossed wires, there is an individual charity for AT At society. Org

Hi there, my wife found this thread on a google search so I thought I better respond to Alan's last post and clear up the confusion. My daughter was originally diagnosed with Ataxia of some description by a GP and then a Chromosome test showed an imbalance on Chromosome 18p (A Duplication on the short arm of chromosome 18) A region which has been associated with Spinocerebella Ataxia 28 and Spastic Ataxia 5. I applied to run the Marathon for Ataxia UK as Obviously I felt I had a direct link. Shortly after that we had test results back from a specific test for A-T which came up positive for ATLD, a rare form of A-T which comes from mutation on MRE-11 (Both myself and my wife carry this gene).

Anyway, I just wanted to clear it all up, the above article came from a local paper, I did explain this to the journalist at the time of the interview but I imagine it was a lot for him to take in thus only writing about A-T and not about anything else I said, my story to finally getting my daughter diagnosed is quite complicated.

I am continuing to raise as much money as I can for Ataxia UK for the Marathon as I would still very much like to do my bit to help find a cure, but as Alan said, the A-T Society is a different charity so all future fundraising I do will be for the A-T Society.

Thank you very much for your support and kind words Punk, I have seen your donation on my fund raising page and words can't tell you how much I appreciate it.

I feel for you joeday, my daughter is 22 and has sca2. Never give up hope and all the best

Thank you punk, I have just read up on sca2 and I feel for you also! nobody could ever understand how this feel's until life forces them into this situation. This is all still very new to us and we are still learning to live with it, its particularly difficult for my other children too, I have a 15 year old son and a 9 year daughter My 9 year old does not know the full extent of what will happen to her little sister, only that she will need a wheel chair but I have been open and honest with my son, he has found it extremely difficult. They are Carriers but do not have A-T thankfully.

Thanks again and I wish you all the best too!

Hello Joeday, I don't really know what I want to say but just to let you know your story has really touched my wife and I so much. Every day when I walk the dog you come to mind. You will get into a routine where you will enjoy life in moments but AT will always be on your mind. Its heart breaking being a father with a daughter who is ill, but until its over I will never give up hope. My son was 15 when he had 3rd stage cancer and he pulled through. He is 24 and is doing great. Ataxia's 2020 vision is enough for me. It may not happen but it does give me something to hold onto and to focus on.

All the best to the whole family