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Living with Ehlers-Danlos Syndrome and Mast Cell Activation Syndrome: Rachel


I visited Rachel in her cosy Surrey home on the day of the Royal Wedding; she was excited because she is soon getting married herself, to her fiance Matt.

Rachel's friendliness and extremely positive attitude despite her difficulties is something that will stay with me; it was impossible to take a non-smiling portrait of her for the cover photo. Read on to get a glimpse into her world and her thoughts about living with her conditions, blogging, Disney, and most importantly, tea, of which she consumed several cups while I was there!

Ehlers-Danlos Syndrome Facts

Prevalence: Approx. 1 in 5,000 but can be much lower for rarer forms of the disease
Cause: Genetic
Description: The Ehlers-Danlos syndromes (EDS) are a group of thirteen individual genetic conditions, all of which affect the body’s connective tissue. Connective tissue lies between other tissues and organs, keeping these separate whilst connecting them, holding everything in place and providing support, like the mortar between bricks. In EDS, a gene mutation causes a certain kind of connective tissue – the kind will depend on the type of EDS but usually a form of collagen – to be fragile and stretchy. These are complex syndromes affecting many systems of the body at once, but despite this EDS is often an invisible disability.
Symptoms: Depends on the sub-type, but includes long-term pain, chronic fatigue, dizziness, palpitations and digestive disorders; complications in pregnancy; hypermobility and joint dislocations
Treatment: Carefully managed exercise and physiotherapy, and drugs to alleviate pain
Sources: www.ehlers-danlos.org / www.nhs.uk

Mast Cell Activation Syndrome Facts

Prevalence: No definitive number - the disease was only formally recognised in 2007 and is still often undiagnosed
Cause: Genetic; known to be often linked to Ehlers-Danlos Syndrome
Description: Mast cells, a type of blood cell, play an important role in the body’s immune system. They react to foreign bodies and injury by releasing a variety of potent chemicals, such as histamine, when activated. In a person with MCAS these chemicals are inappropriately triggered and released. Amongst the triggers are a variety of different foods, exercise, chemicals, fragrances and stress. Many sufferers struggle to identify their triggers and continue to discover new triggers for many years after diagnosis.
Symptoms: Often similar to allergy symptoms such as swelling, itching, vomiting and inflammation; in rare cases anaphylaxis
Treatment: Avoiding triggers in the first place is best, but anti-histamines and mast cell stabilisers are available if triggered.
Source: www.mastcellaction.org


"Tea - the universal go-to for comfort! I love my tea. This is my guilty pleasures cupboard..."

 

"Tea is my kind of liquid lunch! That's all I've had today to 'eat', and some vitamin pills, because recently it's been painful to try to eat. I've been having trouble swallowing and have pain in my stomach too, so I have to force feed myself sometimes to get some nutrition. At times I can't eat or drink anything at all for up to a week and end up in A&E on drips..."


"My fiance Matt is great; at first of course my condition was a challenge in our relationship, and he was frustrated about seeing me in pain and not being able to do anything about it. But over the years he's become really good at things like calling ahead when we go out to check there's something I can eat there; checking if a place is wheelchair friendly in case I need to use one that day; things like that make a big difference."


"I'm a paediatric nurse on an acute ward. [Note: it was unfortunately not possible to document Rachel at work due to issues around the privacy and comfort of the children] It can be very physically challenging and there have been some difficulties with requesting accommodations in light of my condition, but I love it. I was advised to stop nursing and change careers to protect my health, but if I can't do the job I love, then what's left? I'll go on doing it until I physically can't any more. The problem is that mine is very much an invisible disease to outsiders... I've had nasty looks thrown at me several times for using my blue badge in car parks."


"I first got ill when I was 16; my heart didn't feel right, it was beating hard and I was in pain. I was told it's anxiety, and was put on beta blockers, then they thought it might be panic attacks. As for my hypermobility, at the time people just laughed and thought it was cool how I could do weird things with my fingers."


"At the age of 21 I was at a clinic and, randomly, there was a substitute doctor there from the US who saw me instead of the usual doc. He diagnosed me in about 15 minutes and sent me for tests to confirm. I was lucky that I finally got my diagnosis then."


"The mast cell disease makes you allergic to pretty much LIFE. Everything. And it changes all the time. Your face just swells like a balloon... it's horrible. I have to be really careful with what I eat."


"This is my beloved toolbox! My dad taught me how to DIY from a young age - he always showed me what he was working on and helped me learn it too. I'm definitely the handy one around the house and since I spend so much time here I like being able to make it as homely as possible - at one point, Matt had to call me because he had trouble installing a toilet seat!"


"I'm blessed to have someone stick with me, to stick with all this. So I've just got to enjoy the now, and try not to worry about the future. I try to stay upbeat and happy because that's what powers me. I feel like if I stop being positive, stop running ahead of my disease, it'll catch up and consume me, and I can't allow that. But if I could choose for my family to know how I'll progress without me having to know, I would, because then they could be prepared and there for me when I need it most."


"I feel like the younger you are with EDS, the more help you get, which dwindles as you get older. The only gastroenterologist who could've helped me at one point was asking £400 just for a consultation. I can't afford that, and I'm not sure how many people can."


"I'm part of a list managed by an EDS charity that lets you find people in your local area with the disease, for support or a chat. I told them I'm here for a cuppa if anyone ever wants a chat... so many young people are walking into this journey and they deserve so much more than what I had available to me at the time."


"I've only fully dislocated joints three times in my life, so I count myself lucky on that front; I mostly get subluxations which are partial dislocations. What I'm more worried about is my eyesight. I've started to go blind in my left eye already. Matt says he can't bear the thought of me not seeing our children... but to be honest, with my disease I will be happy if I can even safely have children in the first place, because it's not a given for us. I can worry about seeing them afterwards!"


"I'm a massive Disney fan. I'm really looking forward to going to Disneyland Paris after the wedding - I've never been!"


"Blogging about things I like, things I find pretty or inspiring, is my hobby. There's a lot of pink on there! I'd love for it to be an actual job but that's really hard to achieve these days, there are so many people out there trying to make it as bloggers. I don't want to put that pressure on myself."


"This is where and how I take photos of products for my blog."


"This item is a vegan, cruelty free makeup brush set that I love. The company used my photos of it on their social media!"



"Some days it really hits me. Agony, headache, no energy - those are wheelchair days. I spend a lot of time here at home actually, because I get tired easily even on better days. And when I'm pain, I have to just get through it on my own - I don't like taking painkillers because not only do you get used to them after a while, but the idea of a loss of control and possibility of addiction bothers me. I'd rather be strong without them as long as I can."

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If you've enjoyed this glimpse into Rachel's life, and want to spread awareness of Ehlers-Danlos Syndrome, Mast Cell Activation Syndrome and rare diseases in general, it's really easy to show your support by sharing this article simply by clicking one of the social buttons below!

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Donations are also very welcome both to Findacure and EDS Support UK to support their efforts.

Donate to Findacure | Donate to Ehlers-Danlos Support UK

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