Living with a rare genetic disease

"It's a horrible disease really." These were the words of Ballymahon native Tom Colohan when he was explaining the condition he suffers from - Friedrich's Ataxia. A rare genetic condition, Friedrich's Ataxia is present from birth but doesn't develop until later in life. It generally develops between the ages of 6 and 16, although for some people it can be as late as 30. For 27-year-old Tom, Friedrich's Ataxia was diagnosed at the age of eleven, although Tom told the Westmeath Independent this week that the symptoms were there earlier. This bank holiday weekend Tom's friends are holding a fundraising event 'Helium' in Skelly's Bar in Ballymahon to raise funds for the Friedrich's Ataxia Society of Ireland. Friedrich's Ataxia affects balance and co-ordination and results in curvature of the spine, which can impact on breathing and speech. Despite his young age when he was diagnosed, the memory has stayed with Tom. "We had tests in Crumlin for three weeks, they used about 30 different machines. Then the fella diagnosed me. It's the worst moment in your life when he's telling you that sort of stuff. It's a very rare disease. I was diagnosed at eleven and I was told that basically in the late teens and early 20s it was going to be tough that you'll start to notice the signs but I had the signs from early. I noticed the worst signs in my late teens," he said. And he recollects the moment when the real impacts of his disease hit home: "In fifth year we went to Paris on a school tour and that's when it struck me. Do you think I could walk around Paris? I had to get piggy backs off people. I must have annoyed them but it was the only way it would have worked. I brought the wheelchair too, that was in March 1998." Tom explained that it was then he began to rely on his wheelchair and is now completely wheelchair bound. For Tom things that the rest of us take for granted, such as standing on your own two feet, are proud moments. He tries to explain the feeling of being able to stand during the physiotherapy sessions that he attends. "You have to stand in a frame and it feels good, it feels a lot better when you're up straight. The physios are lovely. They set you up easily and it's helpful. It's hard to explain it, but it's helpful to stand there," he said. At the moment, due to cutbacks, Tom attends physiotheraphy sessions on a six-week on, six-week off basis. And while at the moment he is waiting for four weeks before he can go to a physiotherapy session again he is quick to point out that it is no reason for complaint, and simply accepts that this is the way it is. Recalling his childhood, Tom said this week that he was always playing football and, explaining that there were signs there before the age of eleven, he tells a story of attending U10 football training with friends when he was aged about eight. He walked to and from training with his friends, a walk of about 20 minutes. He said on the way back one of his friends asked why he was walking funny, pointing out that he wasn't walking straight, but at the time Tom put it down to having a sore foot. Tom's mother Mary also explains that there were signs, but nothing too significant. She said her mother would tell Tom to straighten up his back when he'd come in from school, but they simply put it down to his heavy school bag. She added that Tom was a bit of a messer as a child so if he walked funny they didn't really pass too much heed. "He was never sick a day in his life, he never complained. He was always out with a football or a hurl," she explained. However, when Tom was in sixth class his teacher noticed he had problems with his balance and suggested that he may have an inner ear problem. When his parents Mary and Oliver brought Tom to the doctor, Declan McGivney, he asked to see a year's supply of his copy books and then gave them a referral letter for Crumlin. Mary was full of praise for Dr McGivney this week, saying he was an outstanding man who had acted quickly when he recognised Tom's symptoms. And so with a trip to Crumlin, it all began. "It's not something I had ever heard of. It was so hard on him when it happened. The doctor is brilliant, he is an outstanding man. He had an idea what it was, even all those years ago," Mary said this week. And while Tom was diagnosed at the age of eleven, it was later in his teens that he really started to feel the affects of Friedrich's Ataxia. "As I got older I could walk a little bit, but I never had the pace to keep up with the other fellas. When I was in secondary school they were big and fast and I would be standing still and talking," said Tom. "If anyone clipped me I'd stumble. In school I always had to hold the rail on the side. You're always thinking about getting out of the way. The lads were really good about it, there was no annoyance, nobody would talk crap. Some of them used to sprint when they were wheeling me. School was the best time, I miss school." Tom also misses out on the fact that he is unable to do things that his friends can, such as travelling around the world. "It's tough when you see other people doing normal stuff and it gets at your mind a lot. You need to be strong mentally. When you're looking at some young fellas going into Athlone to play soccer, them things get to you. That's why I'm self-conscious really. "No other 27-year-old is this small. I'm always nervous around people because they can see my struggles. Lots of my friends live abroad now, I feel I've missed out badly, but that's the way it is though. Lots of us have it, so you just have to accept it. It makes me angry lots of the time, I lose it just thinking about things sometimes," he said. He explained that he feels self-conscious around people because of his disease, whether he is out in public or even when people come to visit him in his home. "I'm very nervous in public. Meeting people is tough, it shouldn't be but it is. I used to go to the pubs, but I haven't been for about a year and a half. I'm very self-conscious. I'm self-conscious always, even if someone comes in here it's the very same. It's not an easy disease." And while his disease can frustrate and annoy him at times, Tom lives as full a life as possible and enjoys trips to Longford to play poker, getting in lots of practice online at home! "I play poker in the Longford Arms and in Mullingar once and they're big things that you're doing. Nobody every says anything when you're playing cards, nobody tells you to hurry up," he said. He also enjoys other outings, to the pub and the cinema on the odd weekend and explains that for someone like him little things are big things. Tom added that having friends online is important as it is good to be able to contact them easily on email or Facebook. "There is one friend I would like to add. It is my former occupational therapist Susan O'Neill whose contact I would like to add to mine. "She was really good to me and looked after all my wheelchair needs and we had good conversations as well. Back in February she left for Dun Laoghaire due to a job transfer. "If she ever saw this I would like her to contact me. I once heard the saying 'In the game of life, you play the cards you are dealt'. (I'm) sick of my seven two off suit." A typical day for Tom involves getting up around 11am with the help of his mother and brother and some days are fuller than others, with outings to the physio, day-trips, trips to the cinema or poker games. However, other days are quieter and he says he often occupies his time watching TV or playing poker online to take his mind off things. Tom has also undertaken a number of FETAC courses in the Phoenix Centre in Longford, achieving certificates in various subjects, including computers. For a time he worked in the Longford Leader offices, but now submits articles from home. He explained that he submits a weekly article on the weekend's sporting activities, which allows him maintain his strong interest in sport. Talking about his time working in the newspaper offices, he said: "When I used to work in the Longford Leader offices I'd be doing good for a couple of hours typing but then it would take a lot out of you. I wouldn't have a lot of stamina, you don't put on a lot of weight so it's not easy to do stuff." His mother Mary pointed out that as a child Tom was a messer and his sense of humour is certainly something he maintains, something that is evident from the jokes he cracks, the laughs he has and the good humoured way with which he approaches things. Speaking about the possibility of a cure for his disease Tom explains that there won't be an instant fix and said even though doctors are carrying out trials at present they would have to carry out tests in lots of people first. "It's at the very early stage. They have to test it first, there would be no instant fix. Maybe it will be good in years. I don't think it will help much, but maybe if you were younger it might help," he said. The money raised from this weekend's fundraiser will go to the Friedrich's Ataxia Society of Ireland, which helps to fund such research. The Helium event is being held in Skelly's Bar on Saturday night, July 31, where Damian Dempsey is the headline act. Tickets are priced at €25 and are available in a number of outlets locally. Tom said his friends are putting a lot of effort into the organisation of the charity event. "It will be good. My friends organised it. They did it last year as well, they ran marathons and triathlons. I don't know what made them do it, they just got the idea and stuck to it, they're sound men," he said.