Hypermobile Ehlers Danlos Syndrome – Diagnosed

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Here goes! I wasn’t sure how to even start with this post as I’ve shared my health journey with you (see previous posts here) for the past few years now. Obviously I have suffered my whole life and have looked at many different avenues to find out what could be wrong, and after 29 years (very nearly 30!) I finally have a diagnosis. It’s been a really long journey and one that’s been incredibly complex and challenging, but I’m hoping now that I might be able to start getting the help I need and be able to live a bit more of an exciting life. So, without making this too long, I will start.

I was diagnosed with Hypermobile Ehlers Danlos Syndrome.

Hypermobile Ehlers-Danlos syndrome is an inherited connective tissue disorder that is caused by defects in a protein called collagen. It is generally considered the least severe form of Ehlers-Danlos syndrome (EDS) although significant complications can occur. Common symptoms include joint hypermobility, affecting both large (elbows, knees) and small (fingers, toes) joints; soft, smooth skin that may be slightly elastic (stretchy) and bruises easily; and chronic musculoskeletal (muscles and bones) pain.

Although hypermobile EDS is thought to be a genetic condition, the exact underlying cause is unknown in most cases, but is often due to a mutation in one of more than a dozen different genes. The specific gene affected determines the specific EDS. Mutations in these genes usually alter the structure, production, or processing of collagen or proteins that interact with collagen. Collagen provides structure and strength to connective tissue. A defect in collagen can weaken connective tissue in the skin, bones, blood vessels, and organs, resulting in the features of the disorder. People may be misdiagnosed with hypochondriasis, depression, or chronic fatigue syndrome.

So those are a few pieces of medical information I put together in the quote to explain exactly what it is. Hypermobile EDS is something I was born with, and as there’s mild hypermobility on both my mum and dad’s side of the family (no EDS though), I inherited a gene from each of them which I believe is why it came out a lot stronger in me. Like it says above, I was diagnosed with M.E./Chronic Fatigue Syndrome when I was 14 and that’s plagued my life since, however I do believe I was wrongly diagnosed because I wasn’t given a reason as to why I had it, but now I know. There’s been so many things I’ve been diagnosed with separately over the years and nobody has ever connected them together, until now.

As you know, I paid to see Dr. Alan Hakim who is one of the UK’s leading experts in rheumatology and is heavily experienced in EDS. I did see a guy here in Bath back in November on the NHS, but unfortunately it was useless. He just told me I had hypermobile joints and that was it. He only spent about 10 minutes with me and I felt extremely dismissed. After having read on up on EDS for many years, and hearing other people’s stories, I felt it was so similar to what I was going through, which is why I saved up my money and waited numerous weeks for my appointment in London. I was pretty nervous about it, but that was soon put to rest when I met Dr. Hakim. He was instantly friendly, kind, reassuring and I felt safe in knowing he knew what he was on about.

We spent a good while discussing my symptoms and what I’ve been through in life, connecting the dots. He then examined me for quite some time, checking my joints, my structure, my skin etc. and even noticing things on me that were apparently not normal (even though I thought they were), so I actually felt like I was being taken seriously for once and not dismissed as a hypochondriac all the time. It was so nice to speak with someone who understood everything I mentioned and could even spot the problems himself just by looking or checking. He said my joints were unstable, they sublax all the time and they pop and crack, due the collagen deformity and not being able to hold them stable. My skin is stretchy and extends further than most peoples, and I suffer a lot of autonomic symptoms because my autonomic system malfunctions. There’s a lot to go into with that as it controls most of your subconscious bodily functions like blood pressure, sweat glands, heart, temperature, digestion, urination etc. so if you want to know more about it, click here for a detailed article to see what’s affected. Dr. Hakim said it was no wonder I was exhausted all the time and used the term ‘Tired but Wired’ which I thought was the perfect description.

There’s so much more to Hypermobile EDS than people realise though, as a lot just assume it’s being flexible and stretchy, but that’s only the surface since there’s a lot going on internally and behind the scenes that you can’t control. He’s recommended me some things to help and I will soon be seeing a chiropractor and physio to try and help with my joints and skeletal issues, and I’m currently going through tests on my heart to see if I have POTS (click here for a description) and just got finished with a 72 hour heart monitor that was on me over the weekend.

I will of course keep you updated on everything going forward, but I wanted to make everyone aware of the disorder because I’ve been in the dark for so long with everything, and if I can help anyone else out there, I’m more than happy too as it’s not easily recognised it seems. The good news is that Dr. Hakim did say that with the right treatments in place, there’s no reason why I can’t try to live a fairly normal life and I might not be in a wheelchair too early on in my life, so I’m quite pleased about that. Obviously that’s not set in stone as the future is unpredictable, but I’m hopeful. So, let me share with you my symptoms and what I go through in case anyone else out there is suffering.

My Hypermobile Ehlers Danlos Syndrome Symptoms:

  • Hyper Mobility Syndrome (joints extend and bend further than normal)
  • Sprained and pulled muscles (regular even from walking)
  • Sub lax dislocations every day (especially hips and jaw. My ring finger often locks)
  • Painful joints in general, they ache and pop, regularly are sore
  • Extremely painful knees if it’s damp or cold, aches in the joints (hot water bottles help)
  • Writing is difficult with a pen as my fingers and wrist hurts within a minute
  • Reading out loud for a while hurts my jaw and causes a dull ache, as does chewing
  • Can’t walk hills because of my hip joint (some sort of impingement)
  • Stretchy Skin, skin takes forever to heal, blisters and bruises extremely easily
  • Acne (since I was 13) (made worse by nuts, certain fruit, sugar, hormones etc)
  • Used to have nose bleeds all the time as a child up until 18
  • Ingrown hairs regularly
  • Irritable bowel syndrome, bloating, had SIBO which was treated
  • Gluten, lactose, sugar and egg intolerance’s and cornflour allergy
  • Light headed, dizzy regularly & nausea, tendency to pass out
  • Lower blood pressure, faster heart rate, can often be tachycardic
  • Vertigo sometimes/extreme motion sickness (especially boats)
  • Heart palpitations (more common around my period of with certain foods)
  • Nerve pain (especially on my arms and scalp, feels like burning skin)
  • Chronic Fatigue / M.E (diagnosed at 14)
  • Don’t tolerate exercise well at all (struggle to breathe and then get painful muscles and exhaustion)
  • Mild asthma
  • Cystitis regularly (can only drink filtered water and a lot of it to keep it flushed)
  • Migraines and tension headaches
  • All chemical sensitivity (can’t tolerate sprays, paint, nail polish etc)
  • Sensitivity to light, smells and loud sounds
  • Poor circulation (regular cold hands and feet)
  • Back pain, especially lower, and upper shoulder blades
  • Accessory navicular bone in right foot (an extra bone that grew)
  • Muscle spasms and jerks
  • Severe heat intolerance (I get exhausted, angry, extreme sweat, can’t move and feel ill)
  • Severe cold intolerance (I sort of shut down and enter a mild hibernation state)
  • Can’t regulate my temperature well, it takes ages
  • A couple of minutes in water and my hands and feet wrinkle so much it’s painful
  • Temporary paralysis (read more on that here)
  • Irregular heavy periods and female related issues
  • Weight gain issues even though I don’t eat much
  • Adrenal fatigue, constant Anxiety, panic attacks, social phobia (under control now)
  • Sweat a lot even if it’s cold
  • Tablets/medications effect me differently to normal people
  • Overactive immune response (a simple cold is more like a severe flu for me)
  • Sensitive teeth
  • Stretch marks since I was a child even though I shouldn’t have got them
  • Concentration issues sometimes as I can’t focus or take anything in at all
  • Memory problems sometimes
  • Sore throats
  • Swollen glands in neck (often, have a permanent pea size one)
  • Sometimes can be very clumsy

So as you can see, there’s a lot of symptoms here. Most of them are daily, or if not, they’re regular weekly so I never really have a string of good days in a row. There are private symptoms as well that I’m not willing to share as they’re personal. I even learned that anxiety is a part of it because of the adrenaline and overactive response system in my body, meaning my generalised anxiety is actually because of the EDS and that’s why I can’t just calm down. The fact that I’m basically 30 and I look about 18 is also connected to it because of the collagen. I’ve been told I will age really slowly so it’s going to take quite some time for me to look older, which I know I will appreciate when I’m older, but right now it is a bit of a hindrance, ha ha. Even my digestive issues are because of it. There’s so much to it that it’s been pretty overwhelming and it’s taken me a week to write this article.

I’m lucky that I’ve been able to create my job from home and become self employed because there’s no chance I can ever go out to a physical job in person as I just wouldn’t be able to do it. Just from walking too much (a regular amount to normal people) causes me pain and aggravation to the point where I’m limping about with hip and back pain, needing to rest for days after. Then I start to get blood pooling in my legs and arms which swells them up and causes throbbing and so much discomfort that I can’t even move them, like their disconnected from me. There’s a lot going on and I can now finally start making progress with planned treatments. Obviously there’s no cure and it’s something I have to manage and live with for the rest of my life, but I know that progress can be made to at least improve the quality of my life now – I hope.

I did want to point out that on my blog, I know I always show my best self, the version of me that’s always healthy and looking well, so a lot of people don’t think anything is wrong, but I class photoshoots in a similar way to acting as you portray a certain look in the photos. I’ve always been extremely conscious of my joints and skin in angles and pictures and on so many occasions I put any photos that show my joints hyper-extended in the trash can. I’ve received abuse in the past for the way my knees look or other skeletal issues that I cannot help, so I’ve just preferred to keep it hidden, however now that I know exactly what’s wrong with me, I say screw the haters and the abuse, I’m not worried anymore about showing my joints bent in a funny angle. I am me and this is how I was born, so any insults from anyone are not taken on board because I know they’re ignorant. Life is too short for nonsense like that. I’m thankful for all of the support that the rest of you give me though, so much so, that I am now comfortable sharing my problems with you all online, for the world to see.

Now regarding pictures, I haven’t got any in this post of my joints because I wasn’t sure how many of you would want to see. I’ve heard bending joints etc can make people quite squeamish and sick, which is why I wanted peoples opinion on if you want to see or not. I plan on doing another post next month with some updates on it and I can include photos there. I would love to know if any of you have Hypermobile Ehlers Danlos Syndrome or another type of EDS, or if any of your friends/family do as I’d love to be able to compare notes, chat, anything like that. I’ve found some forums, which have been great to read as I feel so familiar with other people already, however I haven’t joined up yet. Anyway, let me know what you think. Lorna xx.

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