Evie is a sunny, easy going 6 year old who loves to dance. She really enjoys school and is doing well academically. Evie knows that she has wobbly legs which sometimes cause her to lose her balance, but she is too young to understand that this is the start of a deterioration of her body which will, over the next few years, rob her of all the physical skills she has learnt so far like walking, speaking, writing and feeding herself. Evie is facing a difficult future but there is hope on the horizon. Exciting research is already in the pipeline, which may lead to a treatment to slow or halt the progression of the condition and maybe even reverse its effects. However, research can only move at the pace that funds will allow.

Jenni was our much wanted fourth child, to complete our family. She was born in November 2003, and appeared completely healthy and “normal”. Apart from terrible reflux, which she suffered from as a baby, she was a happy, smiley baby, reaching all her developmental milestones. She began walking at 15 months, which was a little later than our other children, but not significantly so.

By 18 months, her walking was still rather “wobbly” and she seemed to have some difficulty balancing when standing still; she appeared much more stable when she was running, however. We started to feel something was not quite right, so after seeing our family doctor, we were referred to a paediatrician at our local hospital. He appeared rather baffled, and eventually referred us to Alder Hey Hospital in Liverpool, to see a Consultant Neurologist, who after various “tests”, declared Jenni to be “completely normal”. We, however, were not convinced, and at our next appointment at Leighton Hospital, our paediatrician agreed that an MRI scan would be a good idea. By now, Jenni was 2 and a half. The scan was a little inconclusive, so she had another one which appeared “normal”.
We were still sure something was not right, but over the next 4 years, Jenni continued to see the hospital and community paediatricians and received support from community physiotherapists and occupational therapists. She attended mainstream nursery and started school. By the age of 5, it was more or less agreed that Jenni either had a form of Cerebral Palsy or severe Hyper-mobility Syndrome.

From the age of 6, we, and her school, noticed a distinct deterioration in Jenni’s balance, speech and walking ability. We were all becoming more concerned, and at our next Hospital appointment, I broke down in floods of tears, begging the doctor to finally find out what was wrong with our daughter. We could tell that he, also, was concerned about her deterioration and referred her to a specialist neurologist at Manchester Children’s Hospital. She had yet another MRI scan (Normal) and was subjected to numerous, stressful blood and urine analysis tests over the next year and a half- Finally, aged 8, last December (2011), she was diagnosed with Ataxia Telangiectasia- Not at an appointment, but in a letter, which I received one morning whilst Mike was away on business. I did not have a clue what A-T was, so I rushed to the internet and sat there, in a state of shock for what seemed like hours.

Finally, I rang the counsellor at The A-T Society, and sobbed and incoherently asked for advice. The counsellor was brilliant and patiently talked to me for over an hour. Our consultant rang me up the next day, very apologetically, as the letter had been sent out too early. He had intended to talk to us first.

The last year has been very hard on all of us. My parents feel guilty that they have “burdened” me with my faulty gene, and thoughts of what will happen to our darling daughter in the future, are constantly in our minds. We made the decision to move Jenni to a specialist school for children with physical disabilities and she started in this September (2012). She uses a walker to get around now, but is still embarrassed about using it at Brownies and if we meet up with some of her old “mainstream” school friends. She tires very easily and we cannot take her on the long Sunday walks with our 2 dogs anymore. She did manage (with support), to climb up to the top of Glastonbury Hill last Easter, but she will be unable to do that again. Soon, she will need a wheelchair for most of the time.

We try to be positive. She enjoys disabled gym club and swimming and loves arts and crafts activities, but struggles as her hands now shake quite a lot. She loves all animals, especially our 2 dogs and has an excellent memory for finding things!

We know a time will come when she will begin to ask more questions about her condition and we are dreading that day- How can you tell a child that they do not have a future? That they will never grow up to have a family of their own, or a career? That they are likely to die before they are 25?
We are taking each day as it comes and loving our daughter and trying to make her life as happy and “normal” as we can.

Tilla (aged 7) is a funny, caring and beautiful Danish girl, with many friends who lives in a refurbished, old factory building in Copenhagen, Denmark with her little sister, mom and dad. She collects scraps, dries flowers and loves to dress up and play with her many girl friends. Tilla was almost 6 when we got her diagnosed with A-T. It had been a long, hard way to finally get the blood test done and when we got the result we had already read about the disease on the internet. We knew what A-T was, and we were devastated. In Denmark there is not much focus on A-T, no organizations, no research and no one who knows how many has the disease and where to get in touch with them. We felt very alone. 

Tilla on the other hand does not feel alone. She attends a normal school and has already got new friends, although we were worried when she left her safe kindergarten last summer. But the new teachers and school friends have all been welcoming Tilla, and us, very warmly. We have been quite open about the disease and shared it not only with family and friends but also with teachers and parents of the class.

Ines (aged 9 months) is the cutest little creature with cheeks as big as a hamster and eyes as sparkling as stars. She loves to play in her sisters play kitchen and has already four teeth and two more on the way. She crawls and stands and loves to try to walk. Our expectations of her life are certainly not like any other carefree parents, but we love her deeply, maybe even more, as we know the limits of her life. With Ines we will not have to go through all the worries about what’s wrong and why. We have known her condition from the very beginning and therefore we can concentrate on enjoying her fully. While we hope for research to make crucial breakthroughs that can help her get a better life.

Ines was still in her mother’s womb when we realised that there was a 25 percent risk that she had A-T, as a result of Tillas diagnose. Through the rest of the pregnancy and until we felt ready to get our little baby’s blood tested, we hoped and hoped. She was 4 months when the doctor told us that also our second daughter without any doubt had A-T.

Even though our situation might seem unbearable, we find strength everyday just by looking at our happy and loving girls. They shall have the most beautiful lives we can give them.