This is our third instalment from our guest blogger, who writes about different aspects to living with rare conditions. All posts under the title ‘Treasure the Exceptions’ are written by our guest blogger, with information kindly supplied by members of various patient groups, clinicians etc. Whenever possible, permission is sought for direct quotations and anonymity is respected for all.

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Treasure the Exceptions. When it comes to sensory processing: We’re Rare and We Rock.*

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On Rare Diseases Day I had lunch with my friend Jon. Jon has Acromegaly which is a rare, complex and life-threatening condition. It results from the production of excess growth hormone, usually because of a pituitary adenoma. Soft tissues and bones start growing again and, as the tumour develops, it compresses the optic nerve, causing visual disturbances and severe headaches.

It took Jon a long time to get diagnosed. He reports that this process left him with a sense of shame for being portrayed as ‘a hypochondriac and a nuisance’. But he persisted and eventually met a GP who had just attended a relevant conference. Jon says ‘I owe him a huge debt of gratitude.’

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Acromegaly is rare amongst rare conditions in that it can be treated successfully, in many cases. But, although Jon was referred to an exceptional consultant and has undergone extensive surgery and treatment, parts of the tumour remain – and remain active.

I asked Jon if an earlier diagnosis might have made a difference to his prognosis. ‘Yes, definitely,’ he said ‘but it’s an insidious condition and hard to diagnose.’ When Jon sees his consultant he often talks to medical students in the hopes that others will get diagnosed more swiftly. His consultant warns theses students that Jon is ‘very stoic’ so they don’t miscalculate the impact of the condition on his life.

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One of the features of this condition is terrible mood swings. This has been highlighted by medical journalist J. Danzig. Mr Danzig feels that clinical guidance about the physical causes of mood swings would be useful for patients. Sleep apnoea alone can have a negative impact on brain chemistry.

Plus the see-sawing emotions from trying new treatments, only to develop dangerous side-effects or find that they are not working, can’t be underestimated.

While his consultant had to fight to get him expensive drug treatment, Jon says it’s also hard work to get support from his primary care team. ‘Arranging a blood test is like a part-time job.’ And, when one test showed abnormal liver function – as a side-effect from treatment – his PCT asked him about drug and alcohol use. ‘I felt judged and dirtied’ he said. Accessing hormone therapy was also a major hurdle, again, because of the cost. Meanwhile Jon’s income has dropped from £50K annually to about £10K and he no longer owns his own home. Yet, when he applied for benefit, he felt ‘criminalised’. His consultant helped him appeal after his benefit was stopped, five weeks before he was due to have radiotherapy in 2012. Jon says ‘My consultant is rarer than Acromegaly’. But he no longer receives health benefits and Jon’s housing future is as uncertain as his health.

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A new and revolutionary drug for Acromegaly is being developed in America. If licenced here it will be expensive. Much good research has devolved from Jon’s experience because, within the syndrome, he’s an exception. On Jon’s behalf, I hope the bean-counters take this valuable research into consideration, should he need this drug.

Our guest blog author, Polly, is very grateful to Jon for sharing his story. It can be painful to re-live negative experiences but Jon is clearly highly motivated on behalf of others. If you have an experience of a rare condition that you’d be willing to share (or any comments about the ‘treasure the exceptions’ blogs) please contact [email protected] Polly is particularly keen to hear from any clinicians who have patients with rare conditions and from those involved in research.

*This is the logo for a new group (founded by our blogger) which was established to campaign for people with MdDS in the UK.

Disclaimer: This post is the intellectual property of our guest blogger and cannot be reproduced without permission from the author. All comments and opinions are those of the blogger, and may not reflect Findacure, or our affiliates.