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

When Victoria (Vixi)  was diagnosed at just 15 years old  with Behçet’s Disease , everything we thought we knew about her health changed. Behçet’s is a rare, complex inflammatory disorder that most doctors have never seen in their careers. But long before her diagnosis, her symptoms were already shaping her life. Early Signs No One Could Explain Since she was little, Vixi struggled with painful mouth ulcers. We were given many explanations such as stress, vitamin deficiencies

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

From the moment Luke was born, he would scream and scream. All his milk would come back up, and he began to refuse the breast. We tried formula, but the same thing happened. He was hungry, would try to drink, then pull away and cry. I was told it was colic. I was told he was being “naughty” and that it was behavioural. I was told it was allergies. We saw a gastroenterologist when he was 14 months old, and she performed a scope that confirmed EoE. It is a delayed reaction alle

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

I can still remember the day we received that horrific phone call like it was yesterday… Newborn screening tests only started at the specific hospital the year Milandré was born, and they were not compulsory. I thank God every day that I gave permission for that test, even though at the time I had no idea what it was and just wanted the nurses to leave me alone. Milandré was only about a week old, and we were on our way back to our hometown after spending a few days with my p

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

We welcomed our beautiful baby boy at 40 weeks. He was perfect, just as we imagined. At only 6 weeks old, he was admitted for a bleeding gut. Little did we know that his health battle was far from over. At the age of 2, our son woke up in the early hours of the morning unable to breathe. This resulted in us rushing him to casualty every two weeks as doctors worked to stabilise his vitals. After many doctor visits and scans, he was diagnosed with Bronchomalacia , which is a c

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

Having been misdiagnosed, I would have never imagined how life with Pompe would turn out. My name is Michelle Marais and I am a Pompe...