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

Written by Kelly du Plessis - CEO, Rare Diseases SA At Rare Diseases South Africa, we are privileged to walk alongside thousands of patients and families every month. Through our support programmes, awareness initiatives, and community spaces, we meet people at very different points in their journeys. Some are newly diagnosed and frightened. Some have lived with their condition for decades. Some are parents trying to understand what the future holds for their children. Others

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

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