Melanie’s Story

I am a carer for my husband who has an incurable degenerative condition. This started to show symptoms in his late 20’s and has steadily declined over the last 25 years to a point where he is totally dependent on a wheelchair. He cannot walk or stand for long without support, his hand eye coordination is affected as is his speech. His grip is affected and he has trouble holding a pen or knife/fork.

The diagnosis of his condition has changed over the last 25 years and initially he was told it was due to stress and Psychosomatic. In 1990 he saw a neurologist and a series of tests were carried out such as a lumber puncture for muscular sclerosis. However, this was negative and the condition was diagnosed as cerebellum ataxia. The condition is associated with the part of the brain which is not cognitive but affects mobility. This part of the brain has shrunk in size.

Around 2000 we saw a consultant privately because at that time the wait in Wales to see a neurological consultant was about 12-18 months. My husband spent a week in hospital and a number of genetic tests were carried out. There are a number of genetic conditions which present symptoms like my husbands and these are often defective or missing genes. One of these conditions is Fredericks Ataxia. However, the tests were all negative and no defective or missing gene was identified in my husband. Although the general diagnosis was still genetic but the name of the condition was slightly changed to Spino Cerebellum Ataxia.

At this time it was thought the condition was caused by a recessive gene rather than a dominant one. A dominant gene would give a 1 in 2 chance of it being passed on to any children and a recessive a 1 in 4 chance. The important of a correct diagnosis was crucial as we had a child in 1992 and we wanted to know if there was a possibility of it being passed on. It was thought that his condition was most likely recessive as there was no living members of his family with the condition and no one could remember a deceased family member having the condition. My husband is also one of 3 children and he is the only one with the condition. At one point it was thought his parents were each carriers of the gene and had produced a 1 in 4 child with the condition. This meant that his siblings and our child could be carriers as well.

There are around 300 people in South Wales with similar ‘ataxia’ symptoms and the Heath hospital had began a research into this. My husband was asked to take part around 3 years ago. Our last visit to the consultant resulted in another diagnosis based on this research. It is now thought that condition is auto immune. This means that an anti body is attacking the body and has caused the symptoms. Another symptom of this is Vitiligo, which causes a reduction in pigmentation resulting in white patches on the body. This was found to be common in those patients with auto immune and my husband has this symptom.

However, the diagnosis is not concrete and may change again in the future. The up side of such a diagnosis is that it is unlikely to have been passed onto our child and in the future treatment may be possible. The down side is that it is too late for my husband and to date there is no cure or treatment and no real knowledge of how it will progress in the future. As we both get older the care and management of the condition becomes more difficult and more expensive and we become more dependent on a social care system already bending under the strain.