Siān
We first became concerned about Siān when she was one year old. Although she had started walking at 11 months, she was still very unsteady on her feet over a year later. This unsteadiness continued and then by the time she was talking, it seemed there was also a problem with her speech at times - but not all the time. On top of this she also had an almost permanently runny nose. It was difficult to get anyone in the medical profession to take our concern seriously and we were constantly being assured there was nothing to worry about. Of course, we parents want this reassurance more than anything! But despite this, we know in our heart of hearts when all is not right.
Siān started attending nursery school when she was 4 years old and on her second day there I was contacted by the school nurse who suspected that Siān may have a balance problem. The nurse had been very nervous about phoning me as she thought I might be upset with her for suggesting there may be a problem. She couldn't believe it when I told her I was so relieved to hear that someone else had noticed that something was wrong!
Within a few weeks Siān was seen by a neurologist who diagnosed her as having cerebral palsy. We sought a second opinion who confirmed she had CP! It did not seem too much of a shock at the time. After all, it could have been worse - at least CP is not progressive. But even without any medical training, it seemed to us that Siān's balance was deteriorating - but the reassurances kept on coming! Eventually, by the time Siān was 8 years old, her physiotherapist insisted to the paediatrician that she was sure they had the diagnosis wrong and that Siān should be re-assessed. Siān's horrible runny nose was still unrelenting and she was seeing an ENT specialist. Over the previous two years or so her eyes had also taken on a blood-shot appearance and we thought it may have something to do with her nasal infections, but she always insisted that her eyes were not sore.
Well, of course, they had got the diagnosis wrong and on that July day in 1988 when we were told that she had this progressive, unpronounceable, genetic condition, we thought our world had come to an end. On top of all this, no-one, including most members of the medical profession, knew anything about A-T. The isolation was a living Hell.
Now eight years down the road, our world did not come to an end. Siān is a lovely teenager - who, thankfully, no longer has a runny nose! She does not feel in any way sorry for herself, and absolutely hates anyone feeling sorry for her! One thing we have learned along the way is that it is very easy to want to protect a child with special needs and to give them a lot of attention. Unfortunately, where there are unaffected brothers and sisters, it can be very easy to ignore the fact that they also need your attention and they may feel a little resentful and pushed out themselves. Just because they do not have A-T does not mean that they don't have their own problems. It can sometimes feel like being on an emotional roller-coaster.
Today much has changed in the world of A-T. There is more known about it and far more contact between A-T families and researchers. A few months after diagnosis we were fortunate to be part of an A-T research project that was being carried out by A-T researchers in the UK. From this we helped establish the A-T Society in 1989 along with other A-T parents. We recently gave up our involvement in running the Society and now concentrate our efforts through our own A-T Appeal charity.
We are in contact with many A-T families both here in the UK and overseas, but we are sure that there is still a need for more interaction between families and the professionals involved with A-T. So why not get in touch with us - we want to hear from you! e-mail: atinuk@innotts.co.uk
Glynis & Jeff Watkins
Tel: + 44 (0)115 928 7025