Jean - Interview 09

Age at interview: 56
Age at diagnosis: 50

Brief outline: Jean has Motor Neurone Disease (MND). She has given samples to a DNA bank for MND, and is now part of a study using blood and spinal fluid, alongside other tests, to improve the diagnosis and understanding of MND.

Background: Jean is a retired consultant anaesthetist. She is married with two grown-up children. Ethnic background/nationality' White British.

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Jean has a rare form of Motor Neurone Disease (MND), called Progressive Muscular Atrophy (PMA). It is a form in which the symptoms of muscle weakness progress more slowly than on other forms of MND, but there is still no cure for the condition and only one drug treatment available which can slow down the symptoms to some extent. Jean is no longer able to work.

The incurable nature of MND, Jean argues, means that for many people with the condition taking part in research is one of the few things they can do to help fight it. There remain few treatments being tested, so a lot of current research is aimed at understanding the possible causes of the disease and why it progresses so differently in different people. Jean has participated in two different studies requiring tissue or blood samples. The first is a DNA biobank, which will store samples of DNA from a wide range of people with MND and enable researchers to look at the genetics of the condition. In some families there are genetic mutations which mean several family members get the condition. In Jean’s case, the condition is ‘sporadic’, meaning no-one else in her family has it, but it is quite possible that MND is triggered by some combination of environmental factors and a genetic predisposition. 
The second study involves giving regular blood and spinal fluid samples, as well as taking part in MRI scans and various tests of brain function. The study aims to look for biomarkers – particular characteristics of the samples – which can help explain why the disease progresses differently in different groups of people, and may also help provide a diagnostic test for MND. Jean does not expect to get any personal benefit from the research in her life time, though it would be wonderful if a break-through happened soon. But it is something she can do. She has to go twice a year to a university hospital some distance away, and she tries to get the hospital not to put research appointments too close to her clinical care appointments, but it depends when the MRI scanner is available. Research appointments take several hours, and Jean notes that people with disabling conditions may need considerable family support to take part in research. But one advantage of being there for a long time is the ability to build up a strong relationship with the research team and discuss the latest research with them.
Jean personally has no problem with the lumbar punctures needed to take the spinal fluid samples, and performed many herself when she was an anaesthetist, but she knows some people find them very uncomfortable or very occasionally get painful headaches afterwards. She notes that people can opt out of that component of the research if they are worried. She is also not troubled by MRI scans. She recommends other people consider taking part in research, which can be interesting and satisfying. Her message to professionals is that people who have taken part in research like to know the results, so giving them some feedback is an important way to recognise the value of their contribution.


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