My Journey: Being Diagnosed with Ehlers-Danlos Syndrome


My Journey: Being Diagnosed with Ehlers-Danlos Syndrome

One evening, I stood up, felt sharp needles being hammered into my legs and feet, I fell back in bed, my legs didn’t feel like mine anymore – they’d given way. I was 31 and I’d had Ehlers-Danlos syndrome all my life and I didn’t even know it. Read on to know my journey which might help you or someone you know…

If you would like to watch a video version of this post then you can here, or just scroll past to read on 🙂

A Series of Mis-Diagnosis

It was October 2015 and my fingers started hurting.

Nothing else hurt but my fingers – I couldn’t even use a pair of scissors.

Soon, my lower back felt the pain.

I decided to check my temperature and saw that I had fever yet I didn’t feel it, so I went to my GP as I started to believe that all this wasn’t some regular viral.

He ordered the standard blood tests for typhoid, malaria, dengue and chikungunya – all of them were negative. We still didn’t know what I had yet I had persistent fever and random pain in my hands and back.

He prescribed antibiotics for a regular viral infection and asked me to rest in the hope I would get better.

A few days into the antibiotics and with an increasing feeling that I should rest, I lay down… twiddled my thumbs (mentally though because my fingers were hurting).

With the desire to get up and go to the bathroom, I stood.

I stood and fell back in bed.

My legs were in excruciating pain – pain that I would describe as bone crushing with sharp needles being hammered into my legs and feet at the same time.

And I’m not even exaggerating – that’s exactly what the pain was like.

Now I knew now that this wasn’t a regular viral.

And so my journey of mis-diagnosis began.

I was wheeled around from one department to the next, one hospital to the next with a lot of unknowns in the air, perfect blood tests and failing legs which were swelling up and going purple.

I was struggling to breathe while chewing – eating was proving to be tougher each day.

Eventually a chest CT scan showed that I had lesions in my bronchi and fluid around the heart.

Diagnosed with Tuberculosis – Poncet’s Disease

The chest physician suspected that I had a rare form of Tuberculosis – Poncet’s disease. If you look it up, it definitely seemed plausible.

I was tested for tuberculosis – a skin test, a blood test and a sputum test. I wasn’t coughing any sputum and I also had supposed lesions so an endoscopy was done.

The lesions were tested and so was the sputum.

While we waited on the test results, my doctor felt it was necessary to get me onto anti-TB medication for a nine month course and low-dose steroids.

The results were in – it was all negative, I didn’t have TB but now I was a month into the course of meds (which couldn’t be left once started) and if I have Poncet’s disease then I should start getting better in another month.

My face was full of acne, my hair was rapidly greying plus the hair fall was scary.

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Month two, three, four… all were passing by. I was still struggling.

Nine months were over and now my chest physician was unsure of where to take this.

He referred me to an infectious diseases specialist.

Diagnosed with Lyme Disease

Seeing that I had been to the US in 2015 – a few months before my symptoms began, I was ordered a basic test for Lyme Disease. A condition not known to be prevalent in India and the test not commonly done either.

This basic test came back positive.

The infectious diseases specialist wrote my life off to a world of doom.

He didn’t want to see me again believing that he can’t help me. I now look back and feel that he just didn’t know enough about the disease and instead of being honest that he doesn’t treat enough Lyme disease cases, he added fear to my tenacious psyche.

After a lot of research, I found a testimonial of a girl who was bitten by the Lyme disease tick during her travels in the US and when she came back to India, she got sick and met an infectious diseases specialist in Bengaluru.

I decided to contact the same doctor – Dr Swati Rajagopal who did the most amazing consultations over the phone. (If you are in India and are looking for someone who does understand Lyme disease then she could be helpful).

She understood my case, put me on medicines for Lyme disease and asked for retesting of my blood for the various markers indicative of Lyme.

The tests had to be sent to the US and this whole process took a couple of months. I had to be tested three times because of some new test addition or just to double check the previous results.

In the meantime, Lyme medicines were throwing me into a further slump – I have no idea how many with Lyme take those meds – you don’t feel like yourself any more. I was at my worst ever – unable to do the little I could do before.

The final blood test results were in – I didn’t have Lyme disease.

Yes, that’s right – I did NOT have Lyme disease.

Dr Rajagopal was pro-active and helpful – I couldn’t have asked for more, but it was March 2017 and still no diagnosis, so Dr Rajagopal advised me to see a rheumatologist.

Being Diagnosed with Ehlers-Danlos Syndrome

When I initially got sick in October 2015 I had seen a rheumatologist who was struggling to figure out the reason for my symptoms and the strange contortions of my feet.

I was tested for at least 12 to 15 medical conditions but all were negative and then with my chest physician being so confident of me having Poncet’s disease, I never went back to see my rheumatologist.

18 months after my initial symptoms, new issues had emerged.

I was constantly dizzy or feeling like I was regularly riding over speed bumps along with the fever which hadn’t gone since day one – and till today, over four years on, I still go through fever every single day.

The rheumatologist re-evaluated me right from the beginning, checking my skin, my feet and shins where my pains were the most.

Something about my history, the state of my legs, how I was struggling to walk, my movements and my varying blood pressure based on whether I was lying down, sitting or standing – somehow that day all this made her believe I had Hypermobile Ehlers-Danlos Syndrome with an Autonomic Dysfunction (POTS = postural orthostatic tachycardia syndrome).

She was so confident of her diagnosis but still decided to take my file and discuss this with her group of doctors.

I was told to see her after one week.

A week later she confirmed that her diagnosis of Hypermobile Ehlers-Danlos with POTS was what she was sticking with. (If you are based in Mumbai and wish to know my doctor’s name and details then do get in touch).

18 months after October 2015 I had a diagnosis.

In May 2017, on a trip to London I went to the Hypermobility Unit at St. John & St. Elizabeth Hospital.

My history was re-looked at where I explained my entire 18 month ordeal all over again. My joints and skin was evaluated under the Beighton test, my blood pressure was taken while lying down-sitting-and standing.

I received another confirmation of my diagnosis – I had Hypermobile-EDS with POTS.

Ehlers-Danlos Syndrome (EDS) is a genetic connective tissue disorder, in which there is a defect in the structure or processing of the protein collagen.

Symptoms of Hypermobile-EDS can range from chronic joint and muscle pain, loose joints, skin fragility, scarring, slow healing, fatigue, osteoarthritis and dislocations amongst many other symptoms.

 

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As for POTS, according to Cleveland Clinic:

“Postural orthostatic tachycardia syndrome (POTS) is a condition that affects circulation (blood flow). POTS is a form of orthostatic intolerance, the development of symptoms that come on when standing up from a reclining position, and that may be relieved by sitting or lying back down. The primary symptom of an orthostatic intolerance is lightheadedness, fainting, and an uncomfortable, rapid increase in heartbeat.”

“People with POTS cannot coordinate the balancing act of blood vessel squeeze and heart rate response. This means the blood pressure cannot be kept steady and stable.”

Since receiving this diagnosis, I’ve had my multiple falls from the POTS, had random rib slippage, jaw issues, multiple elbow subluxations… not to forget the persistent body pains, legs going through their own craziness (I now use walking sticks to help me) and my skin hurting (was eventually diagnosed with fibromyalgia).

It’s been a maddening ride in which I have had to learn so much very quickly yet trying to maintain my sanity when I would struggled to chew and swallow my food – it was a steep learning curb but today the following things help:

1. My team of doctors – my rheumatologist, my physiotherapist, my gynaecologist… every single porter and nurse at the hospital in Mumbai.

2. The treatments under the guidance of my physiotherapist – kinesiology taping, building muscle strength and aqua therapy.

3. My diet change

4. My walking sticks

5. And most importantly – the company of my family and friends. I don’t know how they managed to cope with the helplessness of seeing me the way they did yet keeping their humour alive to help me get through it all.

6. Oooo I almost forgot! How could I forget Google and Instagram. Researching what I was going through helped me to stay sane and reading how others were managing by reading their Instagram posts was an incredible eye-opener.

It encouraged me to share my journey on Instagram too.

My Learnings

1. After reading up more about EDS, I have come to realise that when the 9 year old flexible me who did gymnastics complained of knee pains which were dismissed as growing pains was actually a sign that I could be a Hypermobile-EDS patient.

Just the fact that I was so bendy should’ve been sign enough when I complained of pains all throughout my life… but sigh… wasn’t to be. It took for me to end up unable to stand and in a wheelchair for us to get there.

So the learning here is for doctors – don’t be dismissive – don’t look for the easiest diagnosis – look beyond especially if your current treatment is failing.

2. As a patient – If your diagnosis isn’t feeling right, trust your instincts and question it. You live with yourself 24 hours of the day – you know what you’re going through – don’t dismiss it – trust it.

3. Allow the doctor to complete their investigations, but ask what’s on their mind.

4. If the doctor is seeming unhelpful – change the doctor. You don’t need to see someone who is forgetting to treat you like a human being.

5. Know what medicines you are taking and why.

6. And finally be acknowledging and grateful towards those who are helping you, those who are on your side. Also, a good pep-talk to yourself also goes a long way.

That’s it from my journey. If you would like to share yours then you can comment below or why not share through a guest post? You can email me on [email protected] and we can discuss this further.

Thank you for reading… take care 🙂

If you’re a social media person, then you can follow me on Instagram, Twitter, Facebook, Pinterest or YouTube.

I have a podcast too. You can check them out here along with their transcripts or if you don’t wanna read them then they’re available on Spotify and Apple Podcasts too.

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Disclaimer: I am not a medical professional. I am a patient and have created this platform to share my experiences. This is all purely informative and in no way am I providing medical advice. Please consult a medical professional. 

4 thoughts on “My Journey: Being Diagnosed with Ehlers-Danlos Syndrome

  1. There seem to be so many similarities between AS and EDS. Reading through your story, now I know why EDS is always in the back of my head. A lot of crossover. I also did gymnastics at a young age and with severe spinal damage, I can still do things that a lot of folks can’t do. The flexibility is still there, but docs here haven’t discussed EDS with me. I’m learning with you with each post! Thank you for being so thorough! My friend’s 14 year old daughter was just diagnosed, so I’ve sent her your site details.

    1. Hi Carrie! I did gymnastics in school too! (now I’m wondering if I’ve mentioned that in this post of mine – I doubt though). I loved playing sport and being very active, which changed with my endometriosis issues at age 11.

      It’s so interesting to know how similar your symptoms have been yet you haven’t been considered for EDS. But that’s what they say with EDS – it may not be a rare disease, it’s just rarely diagnosed. Thank you for taking the time out to read what I put out. I’m really glad it’s fulfilling its objective of being helpful.

      Thank you for referring your friend – I’ve received her comment on one of my posts and I will reply to her in detail. I will do whatever possible to give her any information that I have that could help her daughter. It’s definitely not a nice feeling to get sick when you’re so young with so much yet to understand (although it’s not nice to be unwell at any age). Fingers crossed things do get better for her.

      A big hug for your kindness and support. xx

  2. Loved your story. It took me 3 years to get diagnosed after a coexisting fibromyalgia diagnosis as well. One night at work, I felt a sharp pain in my abdomen and found out a major ligament holding my uterus in place ruptured. My gyn said all the surrounding ligaments disintegrated while trying to be cut. Turns out, my uncle has it, my sister and 3 of my 4 children have it as well. I was wondering…where did you get that awesome sweatshirt? My whole family has issues with our tissues

    1. Hi Kathy, experiencing everything that you have done must’ve been so scary. I’m so sure the problem with EDS is that it’s not that it’s rare but rarely diagnosed. I hope you’re able to now manage your EDS?

      O’ and the sweatshirt – check out this link: https://www.instagram.com/graceandbrace/

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