Hello everyone, my name is Alexandra Elaine Adams, and welcome to my Instagram takeover for Rare Disease UK for this Rare Disease Day 2022. Over the next hour, I will be taking you through a bit of my rare disease journey. My journey as the UK's first deafblind person trained to be a doctor. My thoughts and experiences on the diagnosis of rare disease.
And ultimately, my perspective as a rare disease patient. If you have any questions on anything I share today, or if you just fancy joining in on my journey, you can follow me on my Instagram account, Alexandra Elaine Adams, and my Twitter account, Alexandra underscore DBMed. So, let's get started.
I have a number of rare conditions, but the main focus of today will be Ehlers Danlos Syndrome, and the conditions associated with it. But it's important to touch on everything else in order to put together the bigger picture. As a medical student training to be a doctor, I've always been taught to look at one, or a group of symptoms, and then to try and piece them together to make one big jigsaw puzzle.
But sometimes, some symptoms are coincidental, perhaps an outlier, and so it's important not to exclude them. All these separate symptoms are in fact part of many different and separate puzzles, not just one. It can be confusing, frustrating, and emotionally draining for both the medical professionals, the detectives, so to speak, but also for the patients and their families, the caregivers, and the ones at the core of this rare disease journey.
So, on the subject of puzzling puzzles, here's my story. I was born deafblind. From birth, I've had just under 5% central vision in my left eye and none in my right, as well as sensory neural hearing loss in both ears.
I got my first pair of hearing aids at the age of two years old. Without them, I am completely deaf to the world. But it was during childhood that we began to suspect other things were going on.
My vision loss consists of micro-ophthalmia, bilateral retinal coloboma, cataracts, dislocated lenses, and nystagmus. The micro-ophthalmia and retinal coloboma alone has an occurrence of 1 in every 10,000 people. A rare disease is considered as any disease that has a frequency of anything less than 1 in 2,000 people.
Although we knew I had congenital deafness and blindness, we had no identified cause or reason. It was unclear whether my parents were carriers of the disease I now had, or whether if this was as a result of a genetic mutation, I would pass this on to my future children. By the age of nine, I began developing respiratory and urinary problems.
After some investigation, I was later found to have only one kidney, and was prescribed my first inhaler for presumed childhood asthma. Despite this, I was a very active child, and by the age of 11, I was selected to train and compete on the British swimming team, later gaining sponsorship for the London 2012 Paralympic Games. Of course, being sporty, I was more prone to frequent sprains, kidney joints, and fractures.
But we thought nothing of it, given my high activity levels. I have also always been very low-tone and easily bendy, and was known to be a floppy baby, unable to sit up straight, and was delayed for some of my physical milestones. Again, we thought nothing of it.
If anything, I saw my bendiness as a superpower, and was always showing off my party tricks at the dinner table. With this new discovery, I was put under the care of a paediatric nephrologist and a geneticist. It was initially thought that perhaps a lack of development in my eyes, ears, and kidneys were all linked, hence various scans and investigations were ordered to rule out any obvious syndromes that might be explaining this.
One syndrome that was explored was CHARGE syndrome, which stands for coloboma, heart defects, choanal atresia, which is the congenital narrowing of the back of the nasal cavity, growth retardation, genital abnormalities, and ear abnormalities. Although I ticked some of these boxes, I did not tick all of them, so to now, CHARGE was ruled out. But interestingly, scans showed that a part of my brain, the corpus callosum, was also underdeveloped, as was my kidney, eyes, ears, and hip socket.
It has become more obvious over the years that one side seems to be more affected than the other. I also have a cafe au lait birthmark. This is a type of coffee-coloured birthmark that appears in flat patches across the skin.
Although birthmarks are normal in most babies, a cafe au lait birthmark can be a sign of a genetic abnormality. Hence, this was another clue, or piece of the puzzle, that was then added to the jigsaw. At 13, I frequently had to sit out a PE lesson due to painful hips, knees, and ankle joints.
I suffered my first hip dislocation during a school PE class. I was mid-air, halfway over a hurdle, and, to put it bluntly, the landing was rather nasty, and so was the process of relocating the hip. What started out as respiratory problems then led to gastrointestinal problems.
I was found to have to bear reflux and difficulty absorbing food, as well as developing a hernia. All this meant that I required major surgery on my stomach and oesophagus at the age of 16. I was expected to make a full recovery so that I could return to schooling, and, more importantly, my swimming career, where I had soon hoped to compete at the London 2012 Games.
The surgery went very wrong. I had three operations in one week, but by that point I couldn't even swallow. I lost three stone in a matter of months, and my surgical wounds were really slow to heal.
Multiple surgeries, and over a year in hospital later, I was left with a feeding tube and a venting tube for the next five years. My sporting career was also well and truly over. By the time I started medical school, things weren't getting much better.
If anything, things that were expected to lessen in severity as I grew up in childhood only got worse. I could barely get to lectures due to fatigue and malabsorption. I was found to be severely anaemic and was constantly getting random infections.
Some so bad that I required general surgery to remove septic abscesses. And yet every intervention led me back to the ICU as I suffered a reaction to the general anaesthetic. My blood pressure was consistently and dangerously low.
I began experiencing terrifying seizures and amnesia. And more recently, I began experiencing palpitations and arrhythmias so bad that I had been found unconscious on the roadside with the lowest GCS score before being taken back to the ICU. I have since been fitted with a heart monitor known as a loop recorder.
Nothing ever made sense or seemed to be straightforward. Both myself and my parents underwent various genetic testing and I was selected to be part of a worldwide genetic database to explore and identify rare genetic diseases. This is called the 100,000 Genomes Project.
The 100,000 Genomes Project has around 85,000 NHS patients currently enroled onto its database, all of whom joined the project by December 2018. Although the project is still ongoing, around 25% of patients have already received a genetic diagnosis, which has enabled the advancement in clinical decision making. With this project, there is hope and an overall aim for whole genome sequencing to become part of routine healthcare so that patients with less common disease transportation can be helped.
Genomics England has said that this project and its participants have already helped us find actionable results for many patients with rare diseases and cancer. My genetic investigation is still ongoing, but in October 2020, I received a new significant breakthrough in my rare disease journey and hence the prognosis. I was diagnosed with the rare disease Ehlers-Danlos Syndrome, or EDS for short.
This all happened during my 14-month hospital admission, where I was bedridden for the entire time, undergoing various interventions and surgeries, contracting COVID-19, and also sexed at several times. With an additional three-month hospital admission on top, after a few more ICU stays, I eventually came home from hospital just in time to see in 2022. But in many ways, my EDS diagnosis has changed a lot of things.
Prior to this, I experienced a great deal of uncertainty, but more so disbelief from a number of healthcare professionals. Sadly, patients who present outside of a so-called textbook of common conditions experience medical gaslighting and dismissal from their doctors. The EDS Support Charity echoed this, describing how many patients whose diagnosis time takes on average about nine years are told it's all in their heads.
I definitely experienced a lot of this. In the first three months of my long hospital admission, I had the same consultant tell me every morning ward round that I wanted to be in hospital, but I made myself come in. When I tried to explain everything that had been happening and how I was feeling, people just shrugged.
As a generalist, I could really tell that this doctor didn't care. But I wasn't textbook. I was rare.
And some healthcare professionals just sadly don't have the time or resources to correct. The whole process was deeply distressing, and it felt like nobody believed me or was listening to me. It was even harder that this was all during a time when my family couldn't visit or help advocate for me in the middle of the pandemic.
Eventually, my parents had to send in photocopies of old clinic letters and holiday photographs just to prove my past symptoms and the amount of weight I'd lost. And how the years of misdiagnosis or non-diagnosis has affected my body physically. There are 13 subtypes of EDS, and it requires a number of investigations for a confirmed diagnosis.
The Beighton score is a screening tool used to define generalised laxity in a person's joints, and is often performed by a rheotologist. A score of 5 or higher out of 9 is suggested with some level of hypermobility. But EDS isn't just about hypermobility, stretchy skin, or bendy, clickety joints.
Genetic testing is required to identify mutations which result in faulty collagen, which is the main player in all types of EDS. Because of this, and because collagen makes up pretty much every part of our body, it affects anything and everything, from the skin, joints, musculoskeletal system, the heart and lungs, the G.I. tract, the bladder and the kidneys, the process of wound healing and bruising, and also the brain and nervous system. It can be anything from mild to severe to fatal, and different patients experience different degrees of symptoms, some with just one or two systems affected, and others having every organ affected.
Hence, when I received my EDS diagnosis, everything just clicked into place and seemed to make so much more sense. It's common for EDS patients to also have postural tachycardia syndrome, or POTS, dysautonomia, mast cell activation syndrome, or MCAS, gastroparesis, intestinal failure, detrusor failure, spinal involvement, and other cardiovascular presentations, to name just a few. All of which I had been experiencing.
But you know, the most interesting thing of all was the fact that I noticed a sudden difference in the way healthcare professionals were treating me. All of a sudden, they were taking me seriously. But it's sad though, isn't it, that patients have to have a name to their symptoms, a definitive diagnosis, in order to be believed, to be validated, to be listened to.
At the height of my hospital admission, my mobility was completely nil. I was too weak to move or to sit up in bed, let alone walk. And my hips and shoulders would constantly be dislocating between 10 to 20 times a day, even at a simple log roll or movement.
As a sort of domino effect, it also affected my bowels even more. And it really wasn't uncommon for me not to go to the toilet for up to three months. In one spectacular episode, actually, of medical gaslighting, I can remember being in so much pain that I had to chew up my hospital pillow to stop the pain and tears.
My bladder was spasming so intensely that I somehow managed to push the entire balloon capital out. And my stomach was just grimacing. I'd asked for a bedpan in case I needed to go to the toilet.
I had lost all awareness or ability to go at this point. But whilst trying to go to the toilet from the bed behind the closed curtain, a nurse came to my bedside and whipped the curtain open to the ward and shouted at me. She said, you need to stop crying, shut up and be quiet.
It's not fair on the other patients. I begged this nurse for a bit of privacy. The lack of bowel motility meant that I needed to manually go to the toilet, which involved gloves, pumps, gel.
But this nurse just shouted at me again. She said, well, why can't you just use an enema like everybody else? This nurse just didn't understand that enemas don't make a difference. And so just as I went out to reach for my phone and call my mum in between tears, she grabbed the phone out of my hand and placed it out of reach, as was my call bell.
And I was left in my cubicle with a bed pan of poo inside for the rest of the night. And then on another occasion in medical gaslighting, I found that being a young female patient with a rare condition, we're often undermined in the severity of our symptoms. And often left to last because we are presumed fit and well young, hence are able to wait.
And I can remember one evening in the hospital, my hip was fully dislocated and I was in a lot of pain. I pressed the call bell to ask for help relocating it and to be rolled over to relieve some of the pain. But this nurse comes and she just looks at me and she simply says, I could be seeing lots of other patients right now.
I could be doing lots of other things, but instead I'm standing here in front of you. And so I politely pointed out that they surely wouldn't leave another patient lying in pain. But their response? Yeah, but we're not talking about other patients.
We're just talking about you. And so I was left, hip still very much dislocated. I waited 10, 15 minutes before pressing the call bell again, hoping that somebody else would answer.
But the same person returned and this time just squished my call bell off without saying a word and then walked away. So I had no choice but to try and pull myself over. I managed to get the side rail down so that I could stick my leg out into a position I could then try and relocate my hip.
But as I did this, the call bell swung back. So I had to reach over a little further to retrieve it. Only with my leg already halfway over the bed, I fell out completely and onto the floor.
And I lay there for a good 20 minutes before staff came and found me to help hoist me back into bed. I later found out that it was recorded in my notes that the patient put herself on the floor. I had to wait to go for a precautionary x-ray, which took five hours of waiting on the ward.
And in this whole time, I was putting a neck collar on a spinal board so that I couldn't move. But with frequent projectile vomiting, nobody was there to tip me to my side. So I ended up choking and struggling to breathe.
Thankfully, though, the x-ray of the neck was fine. But it did indicate that my hip was well and truly dislocated. But why then did nobody believe me or take me seriously in the first place? Now, on another note, as someone with EDS and having just recently received my new diagnosis, I was difficult for any form of vascular access.
But when I say difficult, I mean so difficult that not even skilled anaesthetist or intensive care consultants could get access. Ultrasound scans showed I had nothing. And later, a full vascular screening of my entire body showed that I have no patent vessels left in my body.
This means irreversible deformity of my vessels. And so I can no longer have any more dental lines, hip lines, hip lines, and so on. And this poses a very dangerous and ethical dilemma when it comes to needing emergency and surgical intervention.
But again, despite telling person after person after person, please don't attempt the needle again after the 50th time, I'm just told, oh, it's fine, I can see your veins. They don't understand. They don't listen to us, the patients.
And the day after my fall from the bed, I raised my concern, after having done so multiple times that same week, about a worsening pain in my neck. It was red, hot, swollen, and I now couldn't even move my shoulder. And a response to no surprise was, for God's sake, your neck is not fractured, you can move it.
And it was brush off. After all, I was just a young female patient, supposedly otherwise fit and probably just over-exaggerated. That same night, I developed a fever of 41 degrees Celsius.
It was delirious and very calling. I was taken down for an emergency CT scan in the middle of the night, and they discovered I had a cluster of septic blood clots in my neck, where I'd been complaining of the pain for days prior. I also developed atherosclerosis pneumonia and pulmonary embolism, from where I had breathed in vomit while wasting on the spinal cord.
But again, nobody had listened to my initial concern. My lack of and late diagnosis, plus very little knowledge and education surrounding it, amongst the people looking after me, had a significant impact on my mental health, my confidence, and most of all, my trust for the medical profession. It's since resulted in me having awful PTSD, which still affects me on a day-to-day basis.
And then you've got the added complication of me being a medical student, training and working in the exact same environment. It just gets challenging and upsetting at times. But I wanted to emphasise that it is completely normal and okay for your rare disease journey to affect your mental health.
The lack of answers and faith in our experiences naturally leads to anxiety and uncertainty for the future. And until we start exploring the fact that there may be more zebras than you think when we hear those hoofbeats behind us, I think the psychosocial impact will continue being a major player in many patients' lives. But please, don't be afraid to ask for help and to seek support.
Truthfully, I had nobody to properly sit me down to explain my diagnosis or talk me through the management or next steps. I was very much left to fend for and find out things for myself. I mean, one doctor even told me, you're a medical student, surely you're competent enough to work it out for yourself, right? And then he left.
And so the question is, whose responsibility is it? And the simple answer is that it's everyone's responsibility. And having one consultant overseeing it all, acting as an umbrella to everything and everyone, can actually make a huge difference in not only how the patient feels but also how their future can ultimately be laid out. You can find out more about the Ehlers-Danlos Syndrome as well as its useful resources on the EDS Support UK website,
www.ehlers-danlos.org. It provides more information on the different subtypes, it shares insightful educational resources led by leading healthcare professionals in the area and also provides links to support groups for anyone struggling to come to terms with their diagnosis or even getting that diagnosis in the first place.
Something I found to be a lifeline when I was first diagnosed. One of my favourite aspects of the EDS Support Group is their mascot, the zebra. As previously mentioned, and the quote that's associated with it.
As a medical student, I can tell you that we are too often taught the phrase when you hear the sound of hoof beats behind you, think horses, not zebras. In other words, we are told to only look for the common thing, not the uncommon. But what if it's a zebra? The more I learn, not so much as someone training to be a doctor, but more so as a patient, I realise that just like a zebra stripes, medicine is neither just black on white or white on black.
There are still so many grey areas and unsolved puzzles and frustratingly, we as the patients and caregivers are at the centre of it. So, where am I now? Well, despite the diagnosis of my EDS and its associated comorbidities, something that has definitely made the path look a lot clearer, I am still waiting on other diagnoses. Finding the answers and the solutions to rare disease takes time.
It takes many different people, all coming in from many different angles. Sometimes we may not even find the answers in our lifetime. But in the meantime, we still suffer.
Not only from the consequences of the disease itself, but also from the misunderstanding, the misdiagnosis, the dismissal and the disbelief from healthcare professionals. Especially when you're that very small striped zebra in a large crowd of horses. As a medical student, I feel we still have a very long way to go.
But my own experience and listening to others has inspired me to advocate more for the rare disease community. And I hope that you can join me in doing this. Because rare is many, rare is strong and rare is proud.
So then, let's rewind. I'm Alexandra Adams. I am the UK's first deafblind person trained to be a doctor.
And I have EDS, POTS, MCAS, gastroparesis and intestinal failure, to name just a few. And this is my rare disease story. Thank you for listening.
As well as my Instagram and Twitter accounts, you can also find me on my blog site, Setting Sights, where I often talk and write about my experiences as a disabled medical student and a patient navigating the new world of rare disease. Have a great day.
