Rare Disease Day | Ehlers-Danlos Syndrome

Hello! So, it has been awhile since I've blogged but I'm all cozied up in a remote cottage (recovering from a relapse) and thought it was the perfect time to write a little article on Rare Disease Day.

So, as you may have guessed, today is Rare Disease Day. I am a lovely complex mixture of both rare and more common chronic illnesses, but I wanted to write about one of the main battles I face - Ehlers-Danlos Syndrome. I'm trying to keep this a short + simple version, but if you'd like to find out more about EDS I'll put some links at the end of my blog.

What is EDS?

EDS is a hereditary disorder of the connective tissue. Connective tissue supports the tendons, ligaments, skin and bones so this means that EDS can affect nearly every part of your body.

What are the main symptoms I suffer with?

• Joint dislocations - for example my shoulder will dislocate around 12 times (plus) a day. I get full dislocations of my hips, wrists and ankles on a daily basis. All the rest of the joints are less often thankfully!
• Easy bruising - I cannot kneel on the floor as it would cause my legs to bruise horrifically. My friend calls me 'peach' because if I even have a small impact I'll bruise significantly. Sometimes for no reason!
• Joint hyper mobility - my joints have a massively extendable range of motion which they shouldn't have. It was a pro when I was dancing but now it causes problems
• Joint pain and tiredness - I get severe fatigue so currently can only do one hour of 'activity' a day and use my wheelchair to mobilise. I get pain in my legs and head especially too.
• Gastrointestinal problems - I've had severe problems with my digestive system for years which sees me drop stones of weight in a few weeks and stop eating. I'm currently on a tablet which is acting now as a pacemaker for my intestines as they don't work properly but we still have major issues. We've had everything from internal bleeding to my stomach making it's way through into my ribcage!
• Dysautonomia - I have vasovagal syncope which causes my blood pressure to drop suddenly. My heart really struggles pumping blood around my body so it pools to my feet which causes me to feel very dizzy and/or faint so that's always exciting.
• Other symptoms I have include things like stretchy skin, urinary problems, heart murmur... Everyone can experience different symptoms and of different severities which makes it extra difficult with it being an invisible illness

How did I get diagnosed?

There is a test for EDS which is made on clinical features. I personally had to travel all the way down to London about 4 years ago to get my diagnosis.

What is the treatment?

EDS is lifelong and has no cure. I received my diagnosis then basically got left which was very difficult when I had so many problems. The North-East has a major lack of EDS resources so it's sometimes a postcode lottery situation. We now see specialists for each area of symptoms, go to an amazing  clinic called CRESTA which has a interest in EDS and I try keep my joints in place as much as I can by doing very gentle pilates-like exercises to build up my muscle strength. This is a life long condition and I will have to work hard every day just to keep some of my joints in place. Research/treatment/knowledge, especially in the North, is very limited so it makes it difficult. So sometimes it's a bit of a guessing game for both me as the patient and the doctors.

What can you do to help?

Educate yourself about EDS. Read more about it here and just have more knowledge on the condition. If you know someone who has EDS, or any chronic illness, support them by even just popping in for a cuppa. You don't know how much it means. And if you're feeling especially kind - donate to an EDS research charity. Or, you could buy something like a Spoonie Survival Kit (seen here) who are selling their kits to raise money for EDS UK. 

So, you've got a rather short explanation of EDS (which I suppose is a perfect read for anyone who suffers with it - not too tiring!) and I hope this can spread a little knowledge today.

Kate x