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

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

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Since starting to write these blogs I’ve wanted to include the point of view of rare conditions researchers and clinicians. Recently – in an office I can best describe as rambunctious – I met Professor Andy Levy who is a respected researcher, inventor and also my friend Jon’s consultant. Regular readers of these Treasure the Exceptions blogs may remember Jon, who has Acromegaly. Jon described their consultant/patient relationship as being ‘rare’ and ‘a joint journey of exploration’ so I was delighted when Andy agreed to be interviewed for this blog.

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Andy is the go-to man for Acromegaly in this region so for him it’s not rare at all. Seeing so many patients with Acromegaly has given him a strong sense of the issues people with this condition have to deal with on a daily basis. One of the issues for Jon are the problems caused by sleep apnoea. Jon has to use a CPAP machine and, because of the bone growth that results from this condition, finding masks to fit his face is challenging. The machine is also very noisy. Not only does this disrupt Jon’s sleep but he’s also had to contend with vociferous complaints from his neighbours. As Andy said ‘After all he’s been through, Jon really doesn’t need that.’

Andy and I also discussed the regrettable but understandable problems with diagnostic delays which can, in part, be caused by the intense pressure on GPs. Jon’s diagnosis took longer than the average for Acromegaly, which is 4 years, but he’s in great hands now.

Multidisciplinary coordination of care is often lacking for patients with rare conditions but Andy and his team manage Jon’s care very effectively, especially when he has to see other specialists for treatments such as radiotherapy. And they fought hard to obtain expensive medications for Jon.

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Sadly, despite their best efforts and the use of novel treatments, they have not yet been able to halt the progress of Acromegaly in Jon and in this respect Jon is an exception. Andy hopes that what he’s learnt from treating Jon will be useful for other clinicians and – more importantly – their patients. He certainly believes in treasuring the exceptions and his concern for Jon was palpable.

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But Andy’s concern for patients apparently knows no limits. When he’s not busy inventing devices for keeping tube lines safe, he’s putting his money where his mouth is with regards to the importance of the patient perspective. To this end Andy has developed an app which provides a forum for patient testimonies, delivered by short videos. Andy showed me some of the videos which were both humbling and compelling. My feeling is that they should be required viewing for everyone working in health care and I will do all I can to promote this initiative, which has been 20 years in the making.

With ‘Patient Voice’ as the theme for Rare Diseases Day 2016 I hope Andy’s app – his gift to humanity – will gain more recognition around the world. Jon is spot on; Andy is an exceptional consultant. We need more like him.

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MdDS/Treasure the Exceptions blog update: Last month I was privileged to meet two clinicians who have a passion for improving services for people with MdDS in the UK. I have put up funding for one of them to go to New York to train with Dr Dai who developed the opto-kinetic stimulus protocol for MdDS. We will then fundraise for the necessary kit so that this treatment becomes available in the UK. While I focus on fundraising, the Treasure the Exceptions blogs will appear on an ad hoc basis, rather than once a month. Huge thanks, as ever, to Findacure for hosting these blogs throughout 2015.

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

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