Authors Note: A Message of gratitude from Ellie, Creator and Author of A Note of Hope.
"In this week's inspiring interview, Emily—who is currently a neuroscience student at Sussex University—shares her journey with Thoracic Oulet Syndrome (TOS), Functional Neurological Disorder (FND), and Hypermobile Ehlers-Danlos Syndrome (hEDS). I had the pleasure of speaking with her via video call at the end of March, and as we talked for over an hour, she opened up to me about the numerous obstacles she has faced, including dismissive healthcare professionals and the emotional toll of managing misunderstood and overlapping conditions. Emily was only 17 when she was thrust into the world of chronic illness - an experience I can relate to as I was 16 when my own health journey started. I think Emily's story is a poignant reminder of the resilience and strength that young people often need to summon in the face of unexpected health challenge.
Despite these setbacks, however, Emily continued her education, maintaining hope and looking towards a future filled with promise and she is now studying at Brighton University here in the UK. Her support network, including friends, family, and her boyfriend, played a vital role in her ability to navigate these tumultuous times. Furthermore, Emily has also started a podcast to amplify the voices of others with chronic illnesses showcases her commitment to advocacy and community-building. She is a true inspiration - and her story is the epitome of what I try to promote at A Note of Hope. I hope her story resonates with you, as much as it did with me." - Ellie Howe, creator and author of 'A Note of Hope.'
Emily’s story begins just before her 17th birthday, a time when most teens are focused on school and social life. However, for Emily, the onset of persistent and troubling symptoms marked the beginning of a challenging medical journey. Before this, Emily's days were filled with dancing and teaching dance classes. She was in the middle of her GCSEs and was also preoccupied with the typical concerns of a teenager—deciding on her A-level subjects and contemplating her university future. Health issues were the last thing on her mind.
“I guess it all started when I was around 17, in year 12, during the COVID pandemic. I began learning to drive with my dad, and things were going relatively well. However, I started experiencing significant joint pain in my hands. At the time, I didn’t think much of it.”
As a Year 12 student navigating life during the COVID-19 pandemic, she started experiencing severe joint pain in her hands as her father was teaching her how to drive. She initially dismissed the pain, attributing it to overuse or stress. However, as the pain persisted, she decided to consult both her general practitioner (GP) and a rheumatologist. Initially, they diagnosed her condition as Raynaud's phenomenon, a familiar term to Emily. Raynaud's phenomenon is a condition where small blood vessels in extremities such as fingers and toes constrict excessively in response to cold or stress, leading to pain and discolouration. Emily had been told she had Raynaud's since she was 11. She recalled the excruciating pain in her hands while skiing, which her GP had attributed to this condition. The rheumatologist confirmed this diagnosis again, explaining that this joint pain was likely a symptom of Raynaud’s.
However, in the spring of 2021, Emily's health took another troubling turn. She began experiencing episodes where her left eye would randomly turn inward toward her nose, causing her vision to become extremely blurry. These episodes, which lasted for a few minutes, occurred multiple times a day. At first, Emily thought it was a one-off incident, but as these episodes became frequent, they started interrupting her daily activities and causing significant distress. Despite consultations with various medical professionals, including a GP and an ophthalmologist, the cause of these episodes remained elusive.
Whilst preparing for medical school entrance exams, Emily experienced another severe episode at school. She was attending a full-day UCAT prep course when her vision blurred, and she felt nauseous. Struggling through the rest of the school day, she went home in tears, overwhelmed by the situation. Her parents took her to A&E, where she spent hours waiting to be seen. The doctors ran various tests and discovered they could trigger the eye episode by bringing a finger close to her face, but they seemed perplexed and moved on without a clear diagnosis.
She was referred to a same-day emergency care unit (SDEC) the next day, where she underwent a series of tests, including a CT scan, blood tests, and a urine test. Despite the thorough examination, these tests still produced no conclusive answers, leaving Emily and her doctors in a state of uncertainty. Nevertheless, a junior doctor decided to start her on a medication called Lamotrigine, which is typically used for epilepsy. Despite not having seen a neurologist, Emily was prescribed this medication to manage what the doctors suspected were migraines, a condition that often doesn't show up on standard testing.
As Emily began taking Lamotrigine, she was instructed to gradually increase the dosage, eventually reaching 100 mg. However, shortly after reaching this dosage, she developed a rash, a known side effect of the medication. Concerned, Emily called 111 (a free number in the UK to call when you have an urgent healthcare need that isn't a life-threatening situation) for medical advice. They advised her to taper off the medication gradually to avoid any severe reactions.
During this period, an error at the pharmacy added another layer of complication to Emily's journey. She was mistakenly given a medication intended to lower blood pressure, which caused her to feel faint and added to her distress. Despite this mix-up, her episodes temporarily ceased, prompting her doctor to consider blood pressure medications as a potential solution for her symptoms.
This period of trial and error was challenging for Emily. The frustration of dealing with side effects, combined with the lack of clear answers, took a toll on her mental and physical health. However, her temporary relief from the episodes gave her a glimmer of hope that there might be a solution on the horizon and encouraged her to keep pushing forward.
Emily underwent extensive testing to try and figure out the root cause of her symptoms
In the following months, Emily underwent a tilt table test and various cardiac assessments, including ECGs and blood pressure monitoring, as her doctors sought to understand the underlying cause of her persistent symptoms. Despite these efforts, her condition did not improve, and the origin of her symptoms remained elusive.
In February, Emily's health took another troubling turn. She began experiencing episodes of zoning out and paralysis-like symptoms in her hand became regular. These episodes were severe enough that her school had to provide accommodations, and she was advised to stop driving. One of these alarming incidents occurred while she was at work in a cafe - during one of her shifts, she looked down at her right hand to discover it was grey and ice cold. Her manager sent her home, and her concerned dad took her to A&E once again. But, due to lengthy A&E waiting times, by the time she was finally seen by a doctor, her hand had returned to normal. This prompted Emily to take matters into her own hands and she ended up buying a pulse oximeter to use and monitor her condition at home during these episodes. This revealed extremely low oxygen levels (20-30%) and pulse rates in the affected hand.
Concerned about these new symptoms, Emily's incredibly supportive GP referred her to a vascular surgeon. However, during the consultation, the surgeon made dismissive comments about her diet and appearance, which was disheartening for Emily. Emily recalls his comments about her vegetarian diet, “when I went to see him he started by asking me what was my diet, and so I told him I was a vegetarian. And he was like ‘well Emily, you need to stop looking at girls in magazines and trying to be as slim or as skinny as them’ he was basically labelling me as anorexic, when really, I am naturally slim, and I also used to dance a lot. I couldn’t believe it; my family and I were completely shocked”. Such experiences are unfortunately common for many young women navigating the healthcare system, as doctors often make biased judgments based on appearance or other discriminatory factors such as age or gender, adding an emotional burden to the already challenging process of managing a chronic illness. It is a well-documented and widely acknowledge issue in our society. Despite the surgeon's lack of sensitivity, however, he did end up referring her for further tests.
These tests eventually led to a diagnosis of arterial thoracic outlet syndrome (TOS). This diagnosis validated Emily’s symptoms, confirming that her condition was not "in her head" but a genuine medical issue requiring surgery.
Thoracic Outlet Syndrome (TOS) is a group of disorders characterised by the compression of blood vessels or nerves in the space between the collarbone and the first rib, known as the thoracic outlet. This compression can lead to pain in the shoulders and neck, as well as numbness in the fingers. The condition may result from various causes, including anatomical defects, poor posture, trauma, repetitive activity, or sometimes an unclear cause.
There are three main types of Thoracic Outlet Syndrome. The most common type is Neurogenic TOS, which involves the compression of the brachial plexus—a network of nerves originating from the spinal cord that controls muscle movements and sensation in the shoulder, arm, and hand. Venous TOS occurs when one or more veins are compressed, leading to symptoms like blood clots, swelling, and pain. Arterial TOS, the least common type, involves compression of one or more arteries, causing pain, coldness, and paleness in the arm. Although most people usually only present with one type of Thoracic Outlet Syndrome, Emily’s doctor believes that hers may actually be a combination of all three. Treatment for TOS includes physical therapy, medications, and, in severe cases, surgery. Physical therapy focuses on exercises to strengthen and stretch the shoulder muscles, improving range of motion. Medications such as pain relievers and anti-inflammatory drugs help manage symptoms. When conservative treatments fail, surgical procedures may be necessary to remove the source of compression and this is what doctors are likely suggesting to Emily due to her having all three types, however, she is still undergoing testing to confirm this.
To find out more about TOS, click the link below:
Thoracic Outlet Syndrome (TOS)
Thoracic Outlet Syndrome (TOS) is a condition involving compression of the nerves, arteries, or veins in the thoracic outlet, the space between the collarbone and the first rib. This compression can lead to a variety of symptoms and is categorised into three main types based on the structures affected.
While Thoracic Outlet Syndrome (TOS) is treatable, its diagnosis can be challenging due to its diverse symptoms and overlap with other disorders. This complexity, however, does not excuse the numerous obstacles Emily faced in being taken seriously by the medical system, particularly given her concurrent diagnosis of Functional Neurological Disorder (FND), which she received at the beginning of her A-levels around the same time her TOS symptoms began.
FND is a condition characterised by neurological symptoms that cannot be explained by conventional medical tests. These symptoms can include seizures, movement disorders, sensory disturbances, and cognitive impairments. Around the same time as her TOS symptoms started, Emily also began experiencing seizures, with the first seizure occurring at school just weeks before her A-level exams, further compounding her stress levels. It was following this incident, that Emily was referred to a neurologist who diagnosed her with FND.
To find out more about FND, click the link below:
Functional Neurological Disorder (FND)
Functional neurological disorder (FND) is a condition characterised by neurological symptoms, such as weakness, movement disorders, or sensory disturbances, that are not attributable to a clear structural or organic cause but are instead related to abnormalities in how the nervous system functions.
While receiving this diagnosis provided a name for her symptoms, it also introduced her to new challenges. Unlike conditions with clear structural or biochemical causes, FND is thought to arise from abnormal brain function rather than damage. This often leads to misunderstanding and stigmatisation, as the symptoms are real and distressing, yet they do not show up on standard neurological tests, which often left Emily feeling invalidated and dismissed by some healthcare professionals.
"I had to explain that I have Functional Neurological Disorder (FND), which carries a stigma and is not well understood by many doctors. A lot of people think it's all in your head and that you're faking it."
Navigating the healthcare system has been particularly difficult for Emily due to her FND diagnosis. "One of the first questions I would be asked is ‘what is your medical history,’ so I would have to explain that I have FND," Emily recalls. "As soon as I said that the response was often dismissive, with the assumption that my other symptoms were just part of that condition. Many people think it's in your head and you're faking it when you mention FND."
This pervasive scepticism haunted Emily throughout her medical journey towards her Thoracic Outlet Syndrome diagnosis. Before the final appointment where she was finally diagnosed with TOS, Emily told her parents, "I don't even want to go. Can we just cancel it? Because there's no point going to these things." Her parents insisted, but Emily was dreading being accused of lying, faking it, or being a hypochondriac once again. "I didn’t want to deal with that anymore," she says.
Thankfully this wasn’t the case as mentioned earlier, however, Emily's story highlights the significant challenges faced by patients with overlapping and misunderstood medical conditions, emphasising the need for greater awareness and sensitivity in the medical community. The dismissal she experienced due to her FND diagnosis not only delayed her TOS diagnosis but also added to her emotional and psychological burden, underscoring the importance of validating and thoroughly investigating all patient symptoms, regardless of their complexity or overlap with other conditions.
Additionally, Emily’s school experience was significantly impacted as she navigated her health challenges, as she encountered conflicts with school staff over the necessary accommodations for her condition. Some teachers struggled to understand the severity and legitimacy of her symptoms, leading to frustrating and demoralising interactions.
Emily experienced her first seizure at school, and despite informing her course director immediately, they responded with indifference, stating there was not much to be done at that moment. Shortly after, Emily had another seizure while studying in an unsupervised room and, following this, Emily was told she could only attend school if always supervised. She was not allowed to stay for lunch, break, or after school without supervision, disrupting her usual study routine. One day, after staying slightly later to return a folder, the course director reprimanded Emily for staying late without supervision, causing her to leave school in tears. Fortunately, her friends and boyfriend at the time supported her by moving to a local café to study together. Despite these challenges, Emily had a close-knit group of supportive friends, some of whom she remains in touch with.
"I think the biggest challenge is making it known that just because I'm disabled, it doesn't mean I'm not capable."
These experiences deeply affected Emily self-confidence; she says that currently her biggest challenge has been combating the misconception that disability equals incapability. It wasn’t just her school experience that made her feel this way - Emily recalls an incident at work, where her hours were cut and she was eventually let go, because of the impact of her health conditions. She says, “I also got my hours from my job reduced to four hours a week, as opposed to what I was doing previously, and HR got involved, and they basically stopped me doing any work and everything, and basically forced me to quit.”
Initially, Emily’s seizures were not very violent, but they gradually worsened into convulsive seizures. This understandably affected her performance in her A-levels; during a biology exam, for example, a seizure prevented her from finishing her paper. Feeling discouraged, Emily nearly gave up on her A-levels but still managed to achieve the grades needed for her first-choice university. The first semester of university went smoothly for Emily. However, during the second semester, a severe flare-up caused her to have up to six seizures a day. Living alone in student halls made this period particularly challenging, marking the worst her condition had ever been. Emily entered a depressive state, feeling anxious and isolated. She rarely left her flat, avoiding even the communal kitchen out of fear of being a burden to others. Consequently, she ended up neglecting her self-care and well-being.
This difficult period persisted until the summer break, when Emily was able to take some time off from university. Over the summer, she focused on improving her mental and physical health. She also learned to be kinder to herself, including the acceptance and use of mobility aids. Emily now sometimes uses a wheelchair or canes to get around, which helps conserve her energy. She has learned to pace herself, a strategy she picked up from a support therapy group for people with chronic illnesses. This group taught her various techniques for managing her condition, including how to balance activity and rest to prevent flare-ups.
Recently, Emily encountered a recurrence of joint pain, a yearly occurrence that typically persists for an extended period before easing. Upon discussing her symptoms with her doctor, Emily was referred to a rheumatologist and received a diagnosis of hypermobile Ehlers-Danlos Syndrome (hEDS) earlier this year. This connective tissue disorder affects her joints, causing chronic pain and joint instability and explaining so many of her symptoms that have gone unexplained for years.
To find out more about hEDS, click the link below:
Hypermobile Ehlers-Danlos Syndrome (hEDS)
Hypermobile Ehlers-Danlos syndrome (hEDS) is a connective tissue disorder characterised by joint hypermobility, frequent joint dislocations or subluxations, chronic musculoskeletal pain, and skin that is often soft or velvety in texture. Additional features can include easy bruising, gastrointestinal issues, autonomic dysfunction, and fatigue.
Despite the challenges posed by her health conditions, Emily is now in her second year of university, and she reflects on her journey with a sense of perseverance and optimism.
"I think what stands out most is that I've kept going," she shares. "Around this time last year, I was in a really dark place. I would often tell my friends that I felt like the earth just needed to swallow me up because I couldn't deal with everything. But I kept going, and now I have a future to look forward to. I'm doing job interviews for summer internships and planning to pursue a PhD."
This year, Emily is living with one of her best friends from university, Clara.
“Whenever I'm not feeling well, she'll cook for me or do something kind. She loves to bake, so she often makes delicious treats that always make me feel better. I often ask, 'Clara, can you make me some muffins?' and she's always happy to do it," Emily says, highlighting how having a support network, especially when living away from home at university, is invaluable.
"Growing up, I was a dancer and did a lot of music, especially playing the piano. Whenever I'm going through a hard time, if I can get to a piano, I'll sit and play, and it always makes me feel a lot better."
Music and dance bring Emily joy. Growing up, she was a dancer and played a lot of music. "For me, it's the piano. Whenever I'm going through a hard time, if I can get to a piano, I'll sit and play, and it makes me feel so much better," she shares. During a particularly tough period, she attended her dance class every single week, participating in Ballroom and Latin dance despite sometimes having seizures in class. "I insisted on going because I wanted to be there," she emphasises.
Her friends at dance are always there for her, and her flatmate helps her when she's too ill to cook, either making food for her or staying in the kitchen while she clumsily tries to do things herself. "Ultimately, while I enjoy these activities, it's really about being with those people that makes it so special," she reflects.
Emily's boyfriend, who was just a friend during her first year, has also been incredibly supportive. "We lived in the same area of flats, just a two-minute run from each other. I have an alarm on my phone that alerts if I'm going to have a seizure, and he would come over no matter the time of day, sometimes five or six times a day, every single day for the whole semester," she recalls. "He would even stop going to his own commitments if I needed help. Eventually, I had to tell him not to cancel his plans for me, but he always showed up when I needed him. He's truly amazing, and now he's my boyfriend," Emily shares.
Emily has a great friendship group and support system
Emily considers herself fortunate for not losing many friends through her journey. "It has shown me who my real friends are." she says. She met most of her close friends at university after she was already diagnosed, and while she did lose a few friends during sixth form, her true friends remained by her side.
"I've been lucky not to lose many friends through all this. If anything, it showed me who my real friends are. I've met mature people, especially in university after my diagnosis, who stuck by me and made me feel valued."
"I've come to accept that my challenges won't necessarily go away, but there are things I can do and people in my life who will help me keep going and achieve what I want in the future."
Initially, Emily believed her seizures and symptoms would eventually subside. However, she has now come to accept that they might not. Instead, she focuses on the things she can do and the supportive people in her life who help her keep going and achieve her goals. "The fact that I've made plans for the future is an achievement in itself," Emily notes. "This time last year, I wouldn't have even considered planning anything."
Emily's journey through chronic health conditions has inspired her to create a platform for others facing similar challenges. Motivated by her own experiences of not being believed by medical professionals and having to fight for the support she needed, Emily started a podcast to amplify the voices of those with chronic illnesses.
In her podcast, Emily interviews individuals who are navigating life with chronic health conditions, offering them a space to share their stories and experiences. "I started my podcast because I realised if I get treated like that, then other people do as well," Emily explains. "I wanted to create a space where people can feel heard and validated."
Each episode features candid conversations about the struggles and triumphs of living with chronic illness. Emily's empathy and understanding, born from her own experiences, allow her to connect deeply with her guests, fostering a supportive and informative dialogue. Through her podcast, Emily aims to raise awareness, break down stigmas, and provide a sense of community for listeners facing similar battles.
If Emily could write a note of hope to her past self or to others going through a similar situation, she has plenty of wisdom to share. Reflecting on her journey, she recalls a TikTok post she made about what she would tell herself a year ago. Her message is clear and resolute: "If you believe something in your gut, go ahead and fight for it. If you believe something is wrong or you need a specific accommodation or support, fight for that because someone will listen at some point."
Emily's journey through these health issues has been incredibly challenging, but it has also been a journey of resilience and advocacy. From misdiagnoses and dismissive doctors to supportive GPs and eventual correct diagnoses, she has learned the importance of persistence and self-advocacy in the face of medical adversity. Her words serve as a beacon of hope and encouragement for anyone facing similar challenges.
Emily is a beacon of hope!
"If you believe something in your gut, go ahead and fight for it. If you think something is wrong or need a specific accommodation, fight for it because someone will listen eventually."
Thank you Emily for sharing your inspiring story for the 'A Note of Hope' project.
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