My Journey to Diagnosis and Beyond

by Lyndsay McIntyre

My HSD first became apparent when I was three. Well apparent to me anyway. At birth, doctors were concerned about my hips, then quickly dismissed this. By age three, I discovered that my thumbs bent back and that some of my other fingers could ‘lock’ (swan neck deformity). There was always talk in the family about my elbows and how it appeared that my arms were backwards, but the doctors didn’t seem concerned about any of this.

Around age 8, I decided to join the running club at school. This was very short lived as after training, and the one competition I went to, I was in so much pain with my ankles. The teacher who ran the club told me it was ‘part of the fun’ and tried to convince me to stay despite the pain but thankfully my mum backed my decision. She took me to the GP to discuss the pain in my ankles and knees, and the fact that my joints clicked, and I would often click them to try to ease the pain. At this time I was advised that it was growing pains and weak ankle joints. Nothing unusual.

The pain continued, but since nobody listened, I just got on with being a child. When I was 12, one day around Easter time I felt sick and started to get stomach pains. The pains never left, and 20 years on I still get daily pain. Another trip to the GP and no diagnosis. I had the symptoms of Irritable Bowel Syndrome but I was ‘too young’ and this was dismissed as a symptom of anxiety. For the next two years I went back and forth, until again I gave up on this and learned to live with the pain.

Over the years, I developed new symptoms – neck pain, shoulder pain, pelvic pain, ‘popping’ shoulders (later found out it was subluxations). I tried physio, GP visits etc but no diagnosis, no help. Due to the IBS – or not IBS as it was at the time, I am sensitive to painkillers. So I muddled on, went to University and on to work without much support.

In 2015, one day I became unwell and was in severe pain. A trip to the GP and I found out I was pregnant. This was quite a shock and the pain was so bad I was sent to the Early Pregnancy Assessment Service to check the pregnancy wasn’t ectopic, which thankfully it wasn’t. The pain over the next few weeks was so bad, I had to be signed off work and was eventually advised to go to A&E where the doctor diagnosed bowel spasms. I was prescribed children’s paracetamol to manage it and eventually after around five weeks of days spent lying on the bathroom floor, the pains eased. Around week 18 of the pregnancy, I fainted. Not uncommon in pregnancy, so I wasn’t worried when the GP asked me to come in for a blood pressure check. I left my work saying ‘I’ll be back in an hour’ and didn’t return for almost 13 weeks.

When I arrived at the surgery they ran the usual tests for blood pressure etc, then the doctor had a listen to my heart. At this point, I was told I had to go straight to the hospital and if nobody was able to pick me up, I would be going in an ambulance. I spent the rest of the day having ECGs carried out and was told that they were detecting a heart murmur, which could be pregnancy related, and to await a follow up with cardiology. I had further ECGs and an ECHO carried out over the next 12 weeks and was told they couldn’t confirm anything until after the baby was born.

At this point, I was also referred to the hospital for maternity care as a ‘high risk’ patient. Any hope of a water birth was gone and I was advised that I would need to be on a heart monitor during my labour. During my pregnancy I spoke to the GP and midwife about the severe pain I was experiencing in my hands which I was advised was Carpal Tunnel Syndrome – common in pregnancy, and would hopefully clear up on its own.

Three months after the birth of my son, I went back to cardiology who diagnosed me with a First Degree AV Block – a condition which should not be noticeable, but for some reason I do get symptoms from time to time. The doctor at the time did say he would discharge me, but after confirming I might have more children, booked me in for a check up two years later. After this, I went to the GP due to experiencing a flare-up with my stomach. It was at this point, 16 years after my initial appointment, that I was diagnosed with with IBS and prescribed medication.

A few months later I went back to the GP about other symptoms – the continuing pain in my bones, specifically my hands, and the fatigue I was feeling. Without any examination or further discussion, he confidently told me that my problems were all related to my diet, which he had not even asked me about.

As most people with EDS and HSD will understand – I gave up. Lived with the pain and got on with things. The following year, in 2017, I was sitting one night when I realised I had a problem with my vision. I was seeing flashes (like a camera), could not see properly and had lost the feeling in my left arm. This wasn’t the first time, the same thing had happened in 2011, but due to the symptoms I contacted NHS 24 who sent me to hospital. The consultant on duty advised that it was a migraine (same as last time) however this consultant insisted that I come off the pill. He advised that I could not take products with Estrogen in them due to having ‘sticky blood’ and that this put me at high risk of a stroke. My pill was changed to progesterone only and that was that.

I went back to the GP again as the pain in my hands was becoming unbearable at times. This time she ran through some questions and determined I definitely did not have Carpal-Tunnel Syndrome, and she would test for Rheumatoid Arthritis. The results came in – no Rheumatoid Arthritis, but I did have a Vitamin D deficiency, and was told this would account for the pain.

Life went on, then in 2018 I went for my check up with Cardiology. This time, I met the consultant who first wanted to know why I there were two years between my appointments, and informed me that the last doctor was wrong, and I would not be getting discharged but rather I would be getting yearly check ups, and should I feel any symptoms or develop new symptoms, I would have checks carried out in between. The consultant, one of few who has ever shown me any time and who I have a lot of faith in, explained my condition to me. The easiest way to explain it is at times, for no known reason, my heart rate drops, particularly overnight, and has been recorded as low as 30 bpm.

In 2018, I also approached the GP regarding my anxiety. I was offered talking therapy, CBT or medication. I decided against the talking therapies and the GP wasn’t keen on medication, which left CBT. I was told to try an online course or buy a book and taken off my pill in case this was affecting my mood. Online CBT did not work so after a few months I went back as my anxiety was worsening. I was put on to anti-depressants, however due to my heart condition, I was advised I could not take SSRI’s which narrowed the choice of medication down to one. I took this for six weeks, however this did not agree with me and I was taken back off it and advised that I should be referred on, but as I was due to move out of the area soon, that I should seek help off my new GP.

Fast forward three months – moved house and met new GP who referred me for face to face CBT. Only it wasn’t face to face, and in fact was telephone CBT, which did not feel like an option for me. A few months later, I attended a free workshop being ran by a local psychotherapist on pain management, which gave me the push to go back to the GP.

The GP thoroughly inspected my hands and advised she felt I had some type of ligament problem and would refer me on to the physio. We discussed my other issues and my anxiety which was still no better. Then we had the lightbulb moment and I don’t think I’ll ever forget this. She looked on the system for medication that would work with my heart condition.

‘Heart condition, bowel problems, and your bendy bones……..Ehlers-Danlos Syndrome. I need to refer you Rheumatology.’

Queue a lot of googling and freaking out. Eventually the physio referral came through and I met a wonderful physio who scored me 8/9 on the Beighton Scale, although as she said she’s sure I would be 9/9 if she left me long enough to reach the floor. She explained that some of the problems I was experiencing with my shoulders and knees were subluxations. She gave me splints for my hands, confirmed my hypermobility in all my joints, but told me that due to changes in diagnostic criteria that I would likely not get an EDS diagnosis. She was right. I spent around five minutes with the rheumatologist, a lovely but extremely patronising woman who dismissed my pain, told me I did not have EDS without asking me anything, and referred me on to ‘specialist’ physio.

By the time I met the physio, I discovered I was pregnant again. The physio told me that I had no pelvic or hip problems, despite the pain I was in. Advised me that most of my pain was my own fault due to my posture, gave me a few exercises and advised that I refer to maternity physio, and she could not work with me until baby was six months old. She also advised me of how ‘lucky’ I am to ‘just be hypermobile.’ I did refer to the maternity physio who confirmed what I had said – my pelvis was out of place and there is a slight difference in my leg length which was more noticeable due to my pelvis being out. She rotated my pelvis back into place – but confirmed this will likely be a reoccurring issue for me in life.

This time my heart was monitored closely throughout and I learned that I had an ECG aged 11 which showed the problem. This is apparently very interesting as it’s unusual to show so young and therefore signals I have likely been born with this. It’s not a condition many people are born with. The cardiologist confirmed my symptoms are similar to POTS …. without the tachycardia, my problem is bradycardia. My condition has not changed since the first ECG at 11 and one cardiologist was keen to do an MRI in future to look at the make up of my heart and body as a whole, however due to budget cuts I don’t know how likely this is, and due to the lack of doctors, my next check up isn’t until July 2021. Like POTS, I struggle to stand for long periods of time and I struggle with changes in temperatures.

In this pregnancy, I escaped the bowel problems from pregnancy one, then around 20 weeks I took a visual migraine. I had a partial blindness, numbness and confusion for around an hour. I put it down to pregnancy hormones and got on with my day, but two days later it happened again. One trip to the hospital later, I was advised it was likely due to pregnancy hormones and speak to the consultant at my next maternity appointment. The migraines continued – averaging one a day for nine weeks. They caused partial blindness, pain and numbness. I couldn’t drive for months, had to stop working and was referred to neurology. That was in December when I was 21 weeks pregnant. My baby is 8 weeks old and I have heard nothing from them.

So here I am! This is me: Hypermobility Spectrum Disorder, Irritable Bowel Syndrome, First Degree AV Block. Pain varies day to day but I am in pain every day. I have good days and bad days and days were I am frustrated by the limitations of my condition, but I know I am still very lucky to have the health I do have and the life I have. One thing about diagnosis is that it has given me access to organisations that support people with EDS and HSD and it has given me access to information and experts on the condition.

The information I have been able to access has finally provided an explanation to so many things and I just hope that one day, people will be able to access support and information through the GP and that doctors will start to listen and stop being so dismissive. The diagnosis of HSD has helped to make sense of the hypermobility, the full and partial dislocations, the pain, the bowel and bladder issues, the hernias, the skin problems, the anxiety and the resistance to local anaesthetics. HSD affects my whole body.

EDS and HSD Awareness Month is so important as so few people know anything about these conditions, including medical staff. I look young (although I’m not as young as I look), I look healthy, I have a family and I work so I appear capable, but what people don’t see is when my husband has to lift me up, when I do basic housework and have to lie down, when my mum has to come around to help me with my shopping and housework, or the days when I struggle to hold and feed my baby due to the pain.

Making our invisible visible is so important to make people aware and to stop others suffering in silence.

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