Rare Disease Day 🎉

Happy Rare Disease Day! Said no one ever. 😂😂😂

I know this blog is called Hankie’s Brain but today I’m going to write about my (decrepit) body… 
I’ve got 2 rare diseases (that have been identified so far…), the 1st is called Ehlers Danlos Syndrome Hypermobility Type and the 2nd is called Ankylosing Spondylitis. Fun, huh? 

The 1st time I remember chronic pain being an issue was when I was around 13 years old. I went to the Dr’s who referred me to a Rheumatologist. After some blood tests they said I had Raynaud’s Syndrome and growing pains… except I’m 5ft, I’d stopped growing by then 😂  I accepted what they said because I didn’t feel able to question that or go back to the Dr’s about my constant pain and joint issues 😟 I felt that they tell me they’d investigated and made their diagnosis and I was wasting their time.  I lived on over the counter co-cocodamol. 

Eventually in my 20s I started to go back to the GP to complain about my backache and they prescribed much stronger codeine but they didn’t seem to think this constant, and at times crippling, backache was an issue/unusual or anything that warranted investigation. 

Ehlers Danlos Syndrome Hypermobility Type  (EDS HT)

A couple of years ago I decided to start researching causes of joint pain. I was constantly in pain, exhausted and feeling unwell and I’d had enough. I trawled through information comparing my symptoms and discarding possible ailments, nothing seemed to fit. Until I came across Ehlers Danlos Syndrome Hypermobility Type. 

Ehlers Danlos Syndrome Hypermobility Type covers so many of my symptoms, from the obvious (wobbly joints) to the obscure (hernias/gastro issues). 

EDS is condition which affects your connective tissue, the human body is made up of so much connective tissue – when there’s something wrong with it you know about it. EDS is a systemic disorder, meaning it affects your whole system, from joints to organs.

The first thing that made me consider EDS HT as a relevant diagnosis was the fact that I’m hypermobile and my joints move about too much. Despite being hypermobile I’m not actually that flexible. My muscles, tendons and ligaments have to work so hard to keep my joints in place that I feel very stiff all the time and often feel like I’ve done a massive work out, when I’ve all done is rest. It’s exhausting.

It’s also pretty scary at times too. My joints tend to subluxate which is a partial dislocation. My collar bone is permanently subluxated and can’t be put back – it’s the opposite end to a “normal” dislocated collar bone. Many people with EDS often get full dislocations too. Whilst a subluxation may not sound awful it really hurts. It can happen to any joint – including my neck. That is scary. It doesn’t take any extreme movement or stretch to feel the joints in my neck pull apart – that pain lasts for days and the fear lasts for longer.

With my research and discovery of EDS HT came so many lightbulb moments, the main was that I was born with Bilateral Inguinal Hernias (hernias on both sides of my groin); I had them repaired when I was 5. This type of hernia is very rare in the general population, extremely rare in girls but very common in people with EDS! I would have never my connected my hernias to my joint pains! I kept coming across seemingly random things which were mentioned in relation to EDS HT and thinking “that’s me!”. 

It took quite a while to pluck up the courage to approach my GP about this because it is a rare condition and I thought they would just dismiss me. I spent a long time researching and gathering my symptoms and made a table on Word  (ha ha!), and took that along. The GP was brilliant and referred me to all Rheumatologist without hesitation! The Rheumatologist investigated and has sent me to the specialists in London.

EDS HT also causes chronic fatigue and flu-like symptoms. I often feel like I’m the verge of coming down with something awful. That can be very depressing. Now I know what is causing the fatigue and unwell feeling it has helped me to accept it and not fight myself so much. I used to sit there wondering what was wrong me, getting fed of hearing myself tell my family I didn’t feel well and trying to keep it all to myself, whilst berating myself. I’m still not great at expressing it but at least now I don’t feel like a hypochondriac or that people will just roll their eyes or think I’m making it up. 

(Apologies to actual hypochondriacs, hugs).

There are 6 or 7 types of EDS and you can read more about EDS HT HERE

Ankylosing Spondylitis  (AS)

As part of the EDS investigation the Rheumatologist sent me for a barrage of blood tests and X-rays, one of the blood tests was for a gene called HLA-B27 (snappy, huh?). I’d never heard of this gene but it came back positive. It turns out this gene is linked to a condition called Ankylosing Spondylitis. I had presumed that all of my pains were connected to EDS and it didn’t occur to me that there could be something else wrong, it came as bit of a horrible surprise. 

Ankylosing Spondylitis is a type of autoimmune arthritis affecting the spine, sacroiliac joint, rib cage and tendons (anywhere). It explains the severe pain in have in my sacroiliac joint- I didn’t even know there was a joint there! 

Picture from corewalking.com

AS also causes me awful pain in my heels (plantar fasciitis) because the tendons become inflamed; any of the tendons in my body can become inflamed at any time – joy. I get horrible pains in my rib cage which stop me expanding my rib cage properly and therefore my breathing can be a bit off. 

I have constant – literally non stop- backache. It’s always in my lower back/lumber region but increasingly I’m getting pains further up my spine and into my neck.  

There’s a risk with AS that the spine can fuse and I really don’t want that to happen. I have lost some movement/range in my spine but I don’t know if that’s permanent, I hope not! Stretching helps and I’ve been finding Pilates really good. I like Yoga but that’s not so good for the EDS as it has a tenancy to over extend the joints and obviously that causes issues and pain for me. It’s a juggling act! 

AS also causes extreme chronic fatigue. It’s a wonder I’m ever awake! Ha ha! There was a day recently where I woke up at 11, stayed at wake for about half an hour and then slept all day.  I could not stay awake. I managed to wake up from about 5pm to 7pm but then fell back fast asleep. It’s horrible. I think people must think I’m lazy; I’m shit company and that I have a choice in it. Luckily my husband and family are supportive. 

I’m due to have an MRI on my spine and sacroiliac joints to see how much inflammation/damage there is, I’m nervous about that 😟

I wear a back support and sacroiliac belt to help support my joints and keep them in place. That helps, as does Turmeric! Turmeric is a natural anti-inflammatory and I was sceptical but it does actually work! I can’t take things like ibuprofen due to a stomach ulcer and asthma so a natural alternative that actually works is fantastic! 

You can read more on Ankylosing Spondylitis HERE

Overall I cannot imagine what it is so like to be pain free. I can’t believe that this isn’t normal for everyone, I guess that is partly what caused me to suffer without diagnosis/help for so long. 

I would love to be able to sit or lay down without pain or being hyper-aware of my body, I just can’t imagine it! Instead, I’ll just guzzle a couple more Tramadol and snuggle with my dog 😍 xxx