I was twelve years old when I was diagnosed with Neurofibromatosis Type 2 (NF2) . My dad had it, and with a 50% chance of passing it on, my family always knew it was something we needed to watch for. Still, nothing could have prepared us for how my life would unfold. A Childhood Marked by Tumours and Treatment My first MRI revealed a tumour growing on my vestibulocochlear nerve. I had just turned thirteen when I began my first twenty‑eight sessions of radiation . Within month

My name is Reshmie , and I live with multiple rare diseases. Over the years, I have faced thyroid cancer , undergone a splenectomy , and had a portion of my pancreas removed in a pancreatectomy . My medical challenges have been heavy, unpredictable, and often overwhelming—yet I am not alone as I continue fighting. Every day I remind myself: I am still here, and I am still going. What Does “Equity” Mean in My Story? For me, equity begins with simply being heard . The hardest p

As the last‑born daughter of Thomas and Nombulelo Sidzamba, I, Zintle , never imagined how dramatically my life would change after being diagnosed with Spinal Muscular Atrophy (SMA) Type 4)  in 2015. SMA Type 4 is a rare genetic disorder that affects the nerve cells responsible for voluntary muscle movement, causing progressive muscle weakness and atrophy. Before the Diagnosis Before SMA entered my life, I was active, energetic, and constantly on the move — playing tennis, da

My name is Ruhan Adendorff , I’m 34 years old , and I have a rare condition called Sotos Syndrome . I want to share my story with the world to spread motivation, encouragement, and Sotos love to all my wonderful Sotos people across the globe. My Journey with Sotos Syndrome I was diagnosed with Sotos Syndrome when I was five years old . Growing up as a child with Sotos was not easy. In fact, it was very hard. At school I was bullied and made fun of. People would say things lik

When Aiden was born, we had never heard of Epidermolysis Bullosa (EB). The condition causes severe blistering and shearing of the skin. Aiden’s first blisters appeared when he was just five days old. Our doctors here were at a loss. He was treated with antibiotics because they believed it was an infection. We eventually got an appointment with a specialist dermatologist when he was eight months old. A skin punch biopsy was taken from his hand, and that’s when the diagnosis of

I have been living with a clotting disorder for 16 years. I was only 20 when I experienced my first DVT and pulmonary embolism—and I didn’t even realise what was happening at the time. I was very active, so I assumed I had pulled a muscle in my leg. I was limping badly, and my mom told me that if it wasn’t better in three days, I needed to see a doctor. I brushed it off, insisting it was just a muscle strain. On the third night, while bathing, I noticed my leg had a bluish co

During the first three months of my pregnancy, I contracted Covid‑19. At the 12‑week blood tests, the results showed a low risk for Down syndrome but a high risk for Trisomy 13 and Trisomy 18. At that stage, the fetal specialist did not observe anything unusual. As the pregnancy progressed, however, my gynaecologist noticed that the baby was falling further and further behind on the growth chart . We returned to the fetal specialist around 22 weeks. He detected a small hole i

My journey started in 1992, and it took around seven years ( and three miscarriages ) to receive a proper diagnosis. During my first pregnancy in 1992, my gynaecologist suggested that I take half a Disprin under my tongue each morning to prevent high blood pressure, so I did. My baby was born three weeks prematurely by C‑section after going into distress. They managed to save her, but we both developed a severe infection. The doctor said they could not determine the cause

A general pre‑race checkup in May 2019 turned my life upside down. I was training for my first marathon, which was meant to take place in Paris, France, and my focus was fixed on that dream run along the Champs‑Élysées. Even though I was heading towards a very fit fifty, I was feeling unusually tired, but I put it down to a frantic business acquisition, lack of time to train, inadequate sleep, and dealing with a recent death in the family. Hills were becoming harder to run, m

From an early age, I began finding lumps under my skin or deep in my muscles. At first, I was told they were simply fatty lumps and nothing to worry about. That explanation worked until I developed one under my left armpit. I had it removed, and only then was I informed that it was a schwannoma. Later, another lump formed on my upper leg, and this time it was the size of a tennis ball. That triggered a deeper investigation, and doctors discovered that it was a growth on my ne

My symptoms began on 13 March 2022.I received my diagnosis on 23 March 2022, so it took ten days in total. The main reason for the delay was a long weekend, which made it difficult to get an appointment with a neurologist. I was hospitalized for three days and treated with intravenous steroids. During that time, I could not walk without a walker, and it took seven months before I was able to drive again. Today, I can walk normally, although my feet begin to burn if I walk too

My symptoms began in childhood, but everyone said it was “growing pains". I went from doctor to doctor, and each one dismissed me. They told me it was all in my head, that I was depressed, that I was a hypochondriac who wanted attention. At one point I was even told I had fibromyalgia, but deep down I knew that was not the answer. I had a gut feeling that something else was wrong. After years of being unheard, I finally gave up searching for help at age thirty. It was only af

I was born with something I did not choose. It is a rare genetic condition passed down and written into me before I ever had a say. TMAU. For a long time, I did not know its name. I only knew the feeling of being different, even when I could not explain why. When I was younger, it was not so obvious. I could blend in. I could feel normal. But as I grew older, the condition grew with me. The odor became stronger, harder to control, and harder to hide. No matter how much I tri

In June 2024, our three‑month‑old son, Juván , suddenly became severely ill with unrelenting diarrhea. What seemed like a simple virus became a long and terrifying medical journey. After months of hospital stays, countless tests, and endless uncertainty, he was diagnosed with Autoimmune Enteropathy (AIE)  — a rare, life‑threatening condition where the immune system destroys the small intestine, preventing the body from absorbing nutrients. Despite breastfeeding, specialised f

I had issues with my right hand and arm before. It would curl up—like I was having a stroke—followed by about a week of pain and swelling. Movement tests, Nerve Conduction Studies, and CT scans showed nothing. Consequently, I was told it was "all in my head"—probably just stress. Because, apparently, stress makes your hand swell up like a balloon. I eventually gave up investigating. I assumed it was a flaw in my makeup, much like the buzzing in my ears that doctors also dismi

For 10 years I knew I was getting weaker, my legs not being as strong as they should be despite lots of Pilates and cycling. But no one else really believed me until I was strength tested on an exercise machine. Then began the rounds of doctors and tests, everyone still flummoxed.  A respected specialist eventually clinically diagnosed me with the Limb Girdle Muscular Dystrophy but at the time genetic tests were very expensive and there was no treatment for this dystrophy an

In 2012 at the age of 15 I was finally diagnosed with Idiopathic Intracranial Hypertension after years of doctors dismissing my parents concern of headaches and at some point, vision concerns from the age of 8-9 years old. It took far too long to have a diagnosis but all it took was one doctor to listen. They did the relevant testing and found that I had too much cerebrospinal fluid. As the years went on I progressively got sicker unfortunately. I was in and out of doctors o

For years, I was trapped in an exhausting cycle of psychiatric appointments and medication trials, believing that feeling unwell daily, was my new normal. Despite worsening symptoms — fainting, dizziness, tachycardia, fatigue, food sensitivities, exercise intolerance, brain fog and more — doctors were only able to offer ineffective treatments claiming my symptoms were all related to anxiety and depression. I had a psychiatrist tell me that "I just didn't want to get better" ,

A rare disease…   Where do I begin? Sometimes life forces us to live with our pain. No matter how many times you can smile on a random day, there is still that sad part of you that is hidden deep within. You learn to live with the pain simply because the world keeps moving. You go on living your life as if everything is normal but truly speaking, that is isn’t the case. It’s RARE.   The fact that I am able to put down my experience in writing of a part of me that I wouldn’t h

Can you tell us about your journey and how it all began? Most people think a diagnosis is just a word on a medical file. For me, it was a moment that completely changed how I saw my body, my childhood, and my future. At ten years old, I went from standing in line at the movies with my family to navigating hospitals, MRIs, and questions no child should have to answer. Suddenly, my life had rules and regulations — limits on movement, sport, and things I once took for granted. I