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Sarah Bellum is a 63 year old lady who has presented to clinic for a review of her long term medical condition.

Please take a history from Sarah and undertake the appropriate examination. Ensure that your history is focused on how Sarah is coping with this chronic illness. You will then be asked to discuss the case with your examiner.

You are Sarah Bellum, a lady who enjoys swimming and hill-walking. Unfortunately, you are unable to do many of your favourite activities anymore because of a diagnosis which has turned your life upside down: motor neuron disease.

HPC: You first noticed something was wrong around 8 months ago. You used to play tennis with a few friends at the local tennis club, and you found your performance dropping. Whilst you originally put this down to older age – your reflexes aren’t what they used to be – you became concerned when you were dropping the balls that you went to pick up. When this continued into your home life, for example struggling with the front door key and opening plastic bottles, you went to seek help.

After your diagnosis, you noticed that your legs became increasingly heavy, and you found it quite challenging to get up your stairs and to get out of your seat. It’s like your legs are made of lead sometimes. You were determined to keep up with your walking, but you found yourself tripping up more and more frequently. On one occasion you fell and hit your head on the pavement and gave yourself a frightful black eye – that was the last straw. You haven’t been out walking since.

The emotional trauma of managing this diagnosis has been terrible. You try to stay strong for your husband and your (now grown up) children, but you know the realities of this condition. You are tired all the time now, and feel extremely dependent on others to get around in your wheelchair. You’re not sure if this is now because of the heaviness and weakness in your legs, or because of your loss of confidence.

You haven’t had any numbness or change in sensation in your arms or legs. You haven’t passed out, or had any fits or funny turns. Your breathing is absolutely fine, but you’re scared that you’re going to have problems with this in the future. You map how your condition has progressed by your diary entries. You have always kept a private journal so that you can organise your thoughts – over time you can see your handwriting become worse and worse, as your hands became stiffer and you developed cramps when writing even short pieces of text. You always had lovely handwriting. You don’t write in the journal any more – instead you try to type your thoughts out on the tablet that your husband got you, but it’s not the same.

ICE: You are a smart woman and you have done a lot of reading about this condition. You do not expect to live much longer than a year or two, and you’re not sure that you would want to live that long, either. You’ve met people at the end of their life with motor neurone disease, and you find it incredibly depressing. You don’t want to be trapped inside your own body. Occasionally you remember your long walks in the hills with your husband – it’s how you met – and you become emotional with fondness and bitterness. You’re worried about how your family are going to cope with your illness over the coming few months. You’ve always looked after everyone, and taken pride in it. You’re fiercely proud of your independence, and the idea of being cared for, twenty-four hours a day, terrifies you. You’re also devastated that you may not see your youngest daughter, Claire, graduate and become a doctor.

PMH: You had depression around ten years ago, which was a difficult battle. You were very grateful for your husband’s support during that time. You managed to beat it and were managing ok without any tablets – however now you are slightly concerned that the depression and anxiety you used to suffer from may be returning. You must ask your GP about this next time you’re in.

SH: You live in a lovely old house that your family have owned for generations. You would find it abhorrent to move out of this house: it would be the very definition of giving up. However, you haven’t been upstairs for a long time now, as it depresses you having to use that stairlift.

You have an occupational therapist, a physiotherapist and some carers who come in from time to time to check on you. You’re aware that, in time, you may need a speech therapist and a dietician, but you want to hold off on these for now. Saying that, your husband keeps saying that you’re losing weight and looking thin. FH: No one in your family has ever had this kind of problem: this is why this was such a shock to you.

The student should take a history focusing on Sarah’s ideas, concerns and expectations regarding this long term medical condition. An excellent candidate will explore Sarah’s attitudes to the progression of her illness and allow her to reflect on what the future may hold for her in terms of care. In terms of examination, an upper or lower limb motor neurological exam would be appropriate. A competent differential diagnosis would sound something like:

“My differential diagnosis would be a neurological problem: more specifically motor neurone disease. This is indicated by the progressively worsening motor function manifesting itself in recurrent falls, problems with manual dexterity and gait disturbance. It should also be noted in my differential diagnosis that Sarah is at risk of suffering from depression, due to this progressively worsening chronic medical condition, alongside a past medical history of mood disorder.”

Examples of questions to ask in the discussion may include: - How would you investigate this patient on initial presentation? - What is motor neurone disease? - What types of motor neurone disease are you aware of? - How is motor neurone disease diagnosed? Are you aware of any diagnostic criteria? - Who would be involved in this patient’s care? - What prognosis is associated with motor neurone disease? - What complications are associated with motor neurone disease?