This is our tenth 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.
Treasure the Exceptions. When it comes to sensory processing: We’re Rare and We Rock.*
It’ll come as no surprise to most people who read this that I am no longer surprised about how many people I know with a rare condition. Sarah (not her real name), who I met when taking an MA, is one of them and she has EDS (Ehlers Danlos Syndrome). It is also no surprise to me that many rare conditions – such as EDS and MdDS – share similar, overlapping symptoms.
When I met a genetics professor recently we discussed that – in addition to the main symptoms and presentations within each syndrome – both MdDS and EDS patients can experience symptoms of dysautonomia/POTS as well as problems with temperature regulation. Proprioceptive issues are another common denominator. For people with EDS this can result in increased injuries while for people with MdDS disruption to the processing of proprioceptive input may help explain why we feel that we’re in constant motion when we’re not. Cog fog is another common symptom in both conditions and the impact for EDS patients is outlined here. For many of us with MdDS and EDS, some form of migraine may also be a constant companion. So, given the complexity of EDS it is no surprise to me that the awareness campaigners picked the Zebra as their emblem.
Initially Sarah, like many people with chronic conditions, felt unwilling to talk about her health and preferred to keep her focus on the good things in her life. However she also felt the need to raise awareness so that her family and friends understand what she’s going through and by way of encouraging others to seek the necessary diagnoses. Sarah’s own journey to diagnosis involved ‘hitting a brick wall’ (repeatedly and over several years) via her primary care team and getting misdiagnosed with Sacroiliitis. By chance she saw a post about Joint Hypermobility Syndrome on a friend’s facebook wall and spotted the similarities. At this point, reluctantly, Sarah decided to utilise her husband’s dual health insurance to access a private consultation. Sarah was seen very quickly, diagnosed with EDS3, mast cell activation disorder and POTS. Her treatment started immediately and reaped good results.
Fortunately Sarah did the necessary research and found a consultant who is a world expert in EDS. By doing so she avoided the fate of many EDS patients who have been told their symptoms result from ‘illness behaviour’ or are ‘medically unexplained’ which seems to be a euphemism for ‘we don’t know what’s wrong with you so there must be something wrong with you’. Refreshingly Sarah’s consultant acknowledges that, since the understanding about EDS is still in its infancy, some of the treatments will be experimental, won’t work for everyone and will need adapting as time goes on.
Although Sarah’s treatment is no longer covered by her insurance, she is highly proactive in trying to manage this difficult cluster of conditions and symptoms through diet, physio and medications. But this isn’t easy and it is costly, both with respect to financial outlay and the time it takes to do the necessary research. Her current GP had actually heard of EDS and is ‘fascinated’ by it, yet Sarah still runs into problems because of the multi-specialism approach to her care. She reports feeling very confused as to who she should see for which set of symptoms and feels that this confusion is shared by some of her clinicians. Sarah has to wait to see ‘consultant a’ who then says “Oh, you need to see ‘consultant b’ for this” etc. Often these consultants then don’t give her key consultant – or her – the information needed to help guide her treatment overall.
I wish this lack of co-ordinated care was a surprising rare occurrence for patients with complex rare conditions. But there is nothing exceptional about it.
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 firstname.lastname@example.org. 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.
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