Why Does It Take So Long to Be Diagnosed with EDS?

It has taken me 39 years to be diagnosed with EDS even though I have known I’ve had it for years! Currently the diagnosis I have is Hypermobility EDS but let me make it clear, I am still yet to see an NHS EDS specialist in person due to Covid. So whether that may change, is a different matter but as of right now, I’m happy with diagnosis of Hypermobility EDS (HEDS). You may think that’s a bit weird but when I explain that people like me have fought battle after battle their whole lives in the war against the medical profession, you may start to understand a little more.

Did you know that the average age to be diagnosed with any type of EDS is over 40 years old despite us being born with it. You may wonder how on earth that can be true. In my opinion it’s a combination of reasons, from patients giving way to much deference to doctors, not using the right language, GP’s involvement, the fact that the NHS can’t cope with rare diseases at all, the style of teaching for new doctors, plus lack of communication amongst doctors, specialists and  A&E staff etc.

Let me use myself as an example to show you in very basic terms, the struggle that many go through and then I will give you my advice on how to speed things up. So read till the end because I don’t want you to have to wait so long for a diagnosis.

Lea age 0; born and rushed away from her mother because my legs looked wrong, I was yellow and basically not doing well. All the doctors tell my mother is that they thought my hips were dislocated on birth and I was jaundiced (we suspect my hips were dislocated but popped back into place with manipulation). 

Doctors Thoughts = Well she is fine now so lets ignore it. 

Side note – My mother was from a generation where Doctors were revered, you trusted them without question and obeyed faithfully. They were gods. And I was born In 1980 so there was no internet to do your own research.

Lea age 0-9; Random swelling joints, constant pain, nose bleeds, eczema, asthma, nodules, bursurs, joints getting stuck in positions, gastro problems, random allergic reactions and deformed fingers.

Doctors Thoughts = We have no idea, lets just treat one thing at a time.

Side note – Gp’s are in no way able to do more than fix very common problems so I was way out of their league. 

Lea age 10; Same issues as above including eyesight getting bad, Infections, fingers are extremely deformed, teachers see I’m super bendy but gymnastics, ballet and any sport hurts me as does playing musical instruments and causes massive bruising and swelling. 

Doctors Thoughts =  A rheumatologist declares I have Juvenile Chronic Arthritis and puts me on anti inflammatories, extremely strong painkillers, steroids and antibiotics to counter all my infections.

Side note – We had entered the 90’s. I am still too young to be able to communicate things correctly and I trust my parents who trust specialists. They don’t ask enough questions even though I don’t fit the mold of this illness. I never had red hot swollen joints.

Lea age 10-13; Same issues as above. My symptoms persist despite medication and physio. Infections hit me hard including getting Shingles. I’m in and out of hospital as they inject me with cortisol, my asthma degrades, i begin fainting. 

Doctors Thoughts = Change the name of my diagnosis constantly to things like Idiopathic Arthritis or Stills Disease to try and explain my random symptoms. I’m told i’ll grow out of it at 16. I’m put on Methotrexate. 

Side note – I am more able to think, question, read and communicate but i’m not listened too because i’m a child. I’m constantly shown off to medical students like a zoo animal, they focus on my ‘swan neck’ fingers. NO ONE EVER MENTIONS HYPERMOBILITY!

Lea age 13-15; Same issues as above. Jaw issues to the point a surgeon wants to operate, I refuse. I pick up every infection from glandular fever to tonsillitis and eventually i’m struck with chronic fatigue. My hair starts falling out. I feel wrong. Finally I’m old enough to force doctors to listen to me and my symptoms and I’m told methotrexate is a low form of chemotherapy. In one fell swoop I came to the realisation that doctors were doing more harm to me then my illness. I disobeyed. I stopped taking every bit of medication because the side effects ie, heart attacks, liver failure, destroying my immune system etc, wasn’t worth it. I choose pain over that.

Doctors Thoughts = I’m right and you’re wrong, I’m big and you’re small, and there’s nothing you can do about it. (Roald Dahl, Matilda)

Lea age 15-17; Same issues as above. I spend time learning how to cope with pain. (I promise I will write about this another time) I suffer from chronic fatigue badly.  But i’m happy. I feel in control. I rest a lot, I’m careful with my body.

Doctors Thoughts = You grew out of it!

Side note – I haven’t. I still have all the symptoms I have always had, I visibly have weak skin, bruising, sores, swellings, bones not in the right place but no matter how visible this was, as long as my joints aren’t red and hot, it wasn’t arthritis so therefore they didn’t care. I began to see doctors only cared about what they specialised in and if you don’t fit the box, they just dismiss you and call it growing pains. They also don’t read your notes. So basically they have selected memory to make their lives easier.

Lea age 17-29; Same issues as above. I faint a lot, my skin burst open to the point where I have bad scars on the back of my knees, I get mild anaphylactic reactions to random things. My fingers dislocate a lot but this is misdiagnosed as arthritis so they inject me in the palm of my hand but it does nothing.

Doctors Thought = You’re depressed and/or faking it. Plus you are an adult now so no more physio because you grew out of it. You are on your own… Oh wait…Your blood test is a bit weird… You have Rheumatoid arthritis! You won’t take pills? Well fuck you, no physio or anything for you.

Side Note – I grew up with a mother who had anxiety and depression. I know intimately what that looks like and I don’t have it. I’m annoyingly optimistic, chirpy to the irritation of others, I’m extremely social and confident. The fact is, nothing phases me or worries me cause I’ve spent my life with ill kids and people who have it way worse in life then me. I have an excellent perspective and don’t get depressed because of it.

Age 30 – 40; Same issues as above but I’m really bad, the worst in my whole life. I’m in and out of hospital because of ‘gastritis’ to the point that on one occasion I hemorrhage blood and another time I’m critical because I dehydrate quickly. My tonsils are finally removed because they are so damaged they are close to becoming tumorous. My nose is cauterised because I cant stop having nosebleeds. My body feels so broken it’s refusing to work. I start fainting every time I poop. My heart skips beats and it hurts. I have constant abdominal pain.

But things begin to change with a few of the doctors I see. Gp’s are useless as always, in this modern era they are nothing more than glorified first aiders and administrators, not their fault of course, their hands are tied with bureaucracy. Yet the periphery of the medical professions have begun to step up. It was a Podiatrist who first told me I was hypermobile and I needed to see a specialist, it was a physiotherapist who did the Beighton test on me and demanded I get diagnosed.

In the end It was actually my heart specialist who coincidentally specialised in hypermobility in the heart, who after long chats and looking me over declared she was sure I had HEDS, (I already knew exactly what the was but that’s a story for another time). She referred me to a geneticist and the hypermobility clinic in london. (Both referrals got lost)

But it’s the NHS and everything takes time. I have also had five referrals lost because of poor administration. So nothing gets done. And without that diagnosis from a specialist, I was getting nowhere. SO I CHEATED!

In July my mum died. We are very poor. She left me 800 pounds and I did what she always told me to do. I saw an EDS specialist privately. In August I was diagnosed with HEDS and told by the specialist to get a referral to her via the NHS because I was going to need help. It cost me £300 and was worth every penny.

With her letter I went to a new NHS rhumatologist (while literally hiding from my old one who had been dealing with me since I was 10, who was in the next room!) and showed it to him. He listened to me and then checked me over. Then he explained how obvious it was that I had EDS, I was textbook! He cringed when he saw what his colleague had missed. (said idiot had seen me two years previously and told me to get pregnant, it usually helped!!!!) Instantly he referred me to Stanmore hypermobility/eds unit, dermatology, physio, orthotics, hand specialists and heart specialist.

The moral of the story? Cheating works! And this is my advice to you too.

But we are in a pandemic. The NHS is overworked and my heart goes to doctors and nurses. This means that two of my referrals have been lost (yup it’s a running theme even when I have proof of referrals), specialist physios don’t even exist at the moment they have been redeployed (and mormal physios don’t even know what EDS is). I did see orthotics and I had a phone consultation with an EDS specialist that was great. I’m being referred to Stanmore for an in person appointment, there was talk of hospital stays, referrals back to gastro and a new one to urology. I have my heart appointment in February which I’m hoping they don’t cancel.

Patience is a virtue, I know, but so is initiative. So this is my advice to you. Don’t wait. Do your research about EDS. If you feel you have it, then just save up and go to a private specialist. After that life will be a little bit easier. But the war will continue.

I will be writing more about my experiences in this and you can tell me what you would like to know more about on Twitter and Instagram. I’m always happy to talk.

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