This is our fourth 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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Having previously been a healthy and active teenager, when Alice was 19 she became ill with what was later diagnosed as Goodpasture’s Syndrome. Initially she felt it was a struggle to walk quickly or up stairs and this developed into a constant feeling of being out of breath, dizzy and unstable. She found her initial visits to doctors ‘frustrating’ and didn’t feel she, or the symptoms, were taken seriously. The first doctor gave Alice an inhaler and told her that her high BMI was the problem. For someone who’d been training regularly in Taekwon-Do, this was distressing – as were the symptoms.

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When Alice began to cough up blood she was given antibiotics, which were ineffective. Finally – when her skin became yellow and she was coughing up blood every time she moved, or breathed – a friend got involved and took her to another doctor. Alice says ‘She was the only one who asked me basic questions about my health.’ Thanks to this doctor, Alice was rushed through blood tests and chest x-rays. The next day she was called by the hospital and told to go there straight away. A haematologist was waiting for her and she was admitted immediately. Further blood tests were carried out and Alice was very lucky that this happened to be on a day when the hospital were screening for a particular molecule, which made a quick and accurate diagnosis possible. Goodpasture’s syndrome is hard to diagnose. It is also said to be ‘very rare’ but I can’t help wondering how many cases go undiagnosed because of the infrequency of screening. Without a swift diagnosis this condition is usually fatal.

Alice met the kidney and lung specialists who were excited to have a patient with Goodpasture’s as she was their first. Immediately after the diagnosis was made Alice had a line put in an artery and her plasma was removed and replaced by donor plasma. She told me that the staff involved were all really lovely and took the time to explain to her what was happening and how it would help her. Alice is grateful that they also gave her information about the condition although, as she says, ‘everyone else seemed more interested in it than me!’ At the time she felt ‘shocking’ and all she wanted was to feel well again. I’m delighted to tell you that Alice made a good recovery and is now able to continue her studies.

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Whilst researching Goodpasture’s Syndrome for this blog I came across several fora which enable clinicians to ask questions to the lead researchers. I hope this process of knowledge and skill sharing can be developed for all orphan conditions. Also several of the recent papers I read about Goodpasture’s emphasise that what has been learnt from studying this condition has been relevant to other, more common, conditions. Likewise the treatments devised for Goodpasture’s have been adopted for similar conditions and are proving to be highly beneficial.

Our guest blog author, Polly, is very grateful to Alice for sharing her story. 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.