Stuart

Age at interview: 69

Age at diagnosis: 66

Brief Outline:

Stuart is 69 and is married with two adult children. Before he retired, he worked as a pharmaceutical company director. Ethnicity: White Scottish

Stuart was told he had MND around two years after developing symptoms, a diagnosis he has found hard to accept. Because he lost his mum to the disease, he was encouraged to have genetic testing, which came back inconclusive.

More about me...

Stuart first experienced MND when his mum developed the disease “completely out of the blue” in 1995. During this period, Stuart and his wife Niki travelled every weekend to spend time with her and help with her care. Whilst he was grateful to be able to have this time together, looking back he doesn’t feel he fully grasped the prognosis. Stuart’s mum’s symptoms progressed very quickly, and she died just 6 months after diagnosis. Stuart now questions whether her aunt, who was thought to have MS at the time, could also have had MND.

In 2015, Stuart developed gastroenteritis. Following this, he was diagnosed with Guillain-Barré Syndrome. His consultant was confident he would get better, and he worked hard to maintain a positive mental attitude. Stuart started different treatments, but these were not effective and the diagnosis was changed to Chronic Inflammatory Demyelinating Polyneuropathy (CIDP). He continued to try different therapies, including chemotherapy and plasma exchange, and remained hopeful that his condition would improve. However, his symptoms continued to worsen, and he became less and less mobile. 

In 2017, Stuart developed pneumonia and was told by his neurologist that they should consider an MND diagnosis. After a second opinion, he started to process the fact that he had an atypical form of MND. Stuart found accepting this diagnosis very hard. He resisted the aids and adaptations that he was offered, such as having a stair lift put in and using a wheelchair. However, once he got used to these changes, he found that they were beneficial.

Over this period, Stuart never considered inherited MND as a cause of his illness; his experience had been very different from his mother’s. However, the consultant he saw for a second opinion encouraged him to have genetic testing, a point where he had to accept that the disease could be hereditary. Although he was anxious about finding out the results, he decided to go ahead with the genetic tests. These came back negative. Stuart was relieved to be given this news, though when he probed further for a full report, it suggested that the results were inconclusive. Although there was nothing found that is definitely associated with familial MND, there were changes in other genes which could contribute to developing the disease.

Stuart was very concerned for his children and grandchildren but didn’t feel able to talk to them about the possibility that they could be at an increased chance of developing MND in the future. Niki discussed the possible implications of his diagnosis and how they could be affected with them. Stuart feels that what they do with this information is their own decision, which they must make for themselves.

Stuart took part in the interview over email, with Niki’s help. It was ongoing at the time of his death.

Stuart’s symptoms were very different from his mother’s and at first he believed he would get better. He accepted he had MND after treatment for other conditions was unsuccessful.

I had never considered inherited MND. My experience has been very different from my mother’s. In February 2015 I was diagnosed with Guillain-Barré Syndrome following gastroenteritis. The neurologist said, “I will get you better”. I had intravenous immunoglobulin therapy immediately on diagnosis and on other occasions, I had high dose steroid treatment, but nothing worked, and the diagnosis was changed to Chronic Inflammatory Demyelinating Polyneuropathy (CIDP). I had plasma exchange on numerous occasions and chemotherapy. Despite all the many treatments there was a continued increase in disability to the extent that I became totally immobile and needed a powered chair, hoists etc. etc., I always believed I would get better. Positive mental attitude! No negativity!

I developed pneumonia in 2017 and the neurologist said we had to start thinking in terms of not getting better & the probability of an MND diagnosis. I had a second opinion appointment & I finally accepted the diagnosis of atypical MND after that. Genetic testing was suggested but it came back negative for the gene type they were looking for.

After I got the diagnosis of MND I did have to consider inheritance because testing was the first thing the second opinion consultant mentioned. I was very concerned for my sons and for my grandchildren.

Stuart was resistant when aids and adaptations were suggested, but once in place he found them useful.

Despite all the many treatments there was a continued increase in disability to the extent that I became totally immobile and needed a powered chair, hoists etc. etc., I always believed I would get better. Positive mental attitude! No negativity!

Every time something new and more ‘disabled’ was suggested I was very resistant to having it – stair lift, wheelchair, room downstairs etc. I fought against it but then when in place found each thing very beneficial. Acceptance is so hard.