This is our eighth 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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For many of us with rare conditions the diagnosis will come with the following words ‘There is no known treatment or cure.’ The relief of getting a diagnosis, which can take ages, may mean that it’s only later that these words sink in. But when they do it can be a bit baffling if your doctor then offers treatment – usually with medications. Out of a natural desire to want to get better – or from desperation – it is understandable that people want to take them. But it seems it’s very rare for their doctors to explain that these are likely to be ‘off-label’ drugs that may not have been through clinical trials for the specific rare condition.

When people do accept medications, reporting any side-effects can be fraught with difficulty. One woman with MdDS started a prescribed medication and noticed a hike in symptom levels and an increase in her heart rate, coupled with arrhythmia, so she mentioned this to her consultant. He got angry with her and told her that she was ‘psychologically disturbed’. Another person with MdDS told a consultant about some similar side-effects of medication only to find out that he’d forgotten he’d prescribed them. “But Pol,” I hear you ask, “Surely these things happened 30 or 40 years ago? Surely doctors need to know about side-effects so they can collate the information in the absence of formal clinical trials? Especially because people with MdDS have a rare neurological condition that could shed light on more common neurological conditions, via the research? Isn’t that precisely why MdDS is receiving more attention from the scientists, now?”

Regrettably these were not isolated incidents and they happened recently. So I was relieved when I saw this tool-kit for reporting side-effects: http://www.eurordis.org/pharmacovigilance

Great, I thought, now those of us in Europe who don’t want to get a ‘compliance disorder’ label added to our medical records by refusing medications (it happens) at least have an option to donate our valuable patient data when we do accept them. Which, in some countries we have to, to fulfil insurance criteria. But unfortunately nothing is ever as simple as it seems. Discussion of this tool-kit in one of the general rare conditions groups informed me that Eurordis don’t have a mandate to collate data for the UK. At this point I thought ‘OK, I give up. The admin support is either lacking or too complicated for someone with MdDS – a condition that presents like concussion.’

But rare conditions patients are adept at sharing information so the kind lady in that group directed me to the effective way to share such data in the UK: https://yellowcard.mhra.gov.uk/

On the whole I still think that reporting side-effects should be the job of the paid people. But, since they can always argue that it might not be the drug causing the noticeable symptom changes, they tend not to. What usually happens is that the dosage is changed or the patient is switched to another drug. Again, one that may not have been through clinical trials, partly because of the difficulties involved with recruitment for such trials for rare conditions, as outlined in this article.

So we’re back at square one – but, unless section 8 of this changes everything, at least the admin is covered.

But it’s not all confusion and gloom and doom in the rare conditions world. Right now the merry MdDS crew are trying to keep Monique Wilson at the top of the leader board in the 18+ photography section of my current favourite rare conditions tool-kit.

Regular readers of this blog will have seen her work before and if you want to vote for her, here’s the direct link.

More on rare conditions tool-kits next time. If you have a favourite, please let me know – thanks.

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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] I am 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.

Please feel free to share this blog. Disclaimer: All comments and opinions are those of the blogger, and may not reflect Findacure, or our affiliates.

Treasure The Exceptions pt. 8 – Rare Toolkits

by Guest Contributer time to read: 3 min
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