Change Font Size
The story toolbox
Show all tools

Points for Reflection

1. Josephine has said that healthcare professionals have been ‘helpful, but puzzled’ due to unfamiliarity of the condition. If you had a patient with a rare condition, how would you help yourself and colleagues to learn more about the condition?

2. Who would you talk to?

3. Where would you look for information?

Activities

Would you ask the patient and the family if they could give you helpful information?

Quotes

"The needs of someone with a progressive condition change with time and the providers of equipment (Social Services & co) need to be aware of this."

"Often the waiting time to get something done is excessive, causing undue risk of injury and loss of dignity in some cases."

"At the end of a fortnight I was told that my son had Ataxia-Telangiectasia (A-T) and that the outlook was not good. On hearing this, and after some explanation of the condition, I remember feeling shock, sadness, and yet at the same time relief that after 24 years we had been given a definite diagnosis."

Further information

The Ataxia Telangiectasia Society: http://www.atsociety.org.uk/

SCOPE - the disability organisation whose focus are people with cerebral palsy: http://www.scope.org.uk/

National Institute of Neurological Disorders and Stroke: Ataxia Telangiectasia


Location: The Stories
Transcript

You can download the full transcript here

Josephine’s story: My son and ataxia telangiectasia
The long wait for diagnosis of this autosomal recessive condition

My son was born in 1956, a healthy and apparently “normal” baby. By the age of 9 months he was able to walk holding someone’s hand. As he got older his understanding of language was good, his use of words good, but his speaking was difficult. He was falling quite a lot and his co-ordination was steadily deteriorating. At 5 years old he had a medical examination and I was told there was a serious problem with his sight. This was confirmed by our optician who prescribed spectacles; this made life easier for my son but his problems with balance and co-ordination increased.

At 7 years old he was seen by the neurologist who said he had Cerebral Palsy: at the time this diagnosis seemed to puzzle our G.P. At primary school his progress was good but hampered by his difficulty with writing. At the age of 11 he went to a residential school for children with Cerebral Palsy. This was a happy period for him, but also difficult as his problems were increasing, to the puzzlement of the staff.

In 1980, my son saw a specialist who straight away said my son did not have Cerebral Palsy and he would like him to go into hospital for tests. We were warned not to expect good news. At the end of a fortnight I was told that my son had Ataxia-Telangiectasia (A-T) and that the outlook was not good. On hearing this, and after some explanation of the condition, I remember feeling shock, sadness, and yet at the same time relief that after 24 years we had been given a definite diagnosis.

My son has always been very positive, gets on well with everyone, is sympathetic towards other peoples’ problems, and seldom complains. Consequently he has been totally accepted as a much loved and respected member of the family. Obviously we have been unable to do things other families take for granted but, because of my son’s disability we have met many lovely and interesting people and become involved in projects and activities as a result. Of course there have been frustrations and much heartbreak along the way but the overall picture is a very happy one. His brother and sister have always supported and encouraged him, and in turn their children accept my son as a much loved uncle.

Apart from one incident I have found everyone within the NHS helpful, if at times puzzled, but I would particularly point out the help and support we have received from our GPs over the years. My son has recently moved to a new area so is still sounding out the ground. One grumble he has is that hospitals seem unable to meet the needs of disabled patients and facilities are poor. There is no criticism of the staff. On one occasion I did go with my son to see a neurologist for assessment. This was before he had been diagnosed as having A-T. After a very brief examination I was told that because of the brain damage his intelligence was obviously affected. I was too angry to argue the point!

The needs of someone with a progressive condition change with time and the providers of equipment (Social Services & co) need to be aware of this. Often the waiting time to get something done is excessive, causing undue risk of injury and loss of dignity in some cases. Some diplomatic education on this point would be useful.