Rare Diseases - More Than You Can Imagine
- Jojo talks med
- Feb 28
- 6 min read
Updated: Feb 28
There would be times when I was unable to stand up straight, unable to keep up with my friends, and unable to walk across the room. Some days I couldn’t get out of bed, walk more than a couple of feet without a wheelchair, or get up the stairs. However, some days I was completely fine. I was given round-the-clock ibuprofen, while my parents jumped from doctor to doctor, searching for an answer they weren’t being given. My symptoms were intermittent, making it harder to come up with a diagnosis. Anna, 17 years old, diagnosed with Chronic Recurrent Multifocal Osteomyelitis. HEROES archive
The word Rare is often misunderstood. When we think of the word “fewer”, it seems to give the vibe of less important or invisible but in the lives of those with rare diseases, that is not the case, rare doesn’t mean insignificant. It doesn’t mean mild and it definitely doesn’t seem invisible to the person living with it every day.
It’s the last day of February and on this day, people all around the world lend their voices to advocate and create awareness for those affected by RARE DISEASES that baffle even the best of scientists out there.
WHAT IS A RARE DISEASE?
A rare disease according to Wikipedia is any disease that affects a small percentage of the population. A type of disease whose rarity results in little or no funding or research for treatments, without financial incentives from governments or other agencies.
The European Organization for Rare Diseases (EURORDIS) estimates that between 3.5 and 5.9% of the world's population is affected by one of approx. 6,000 distinct rare diseases identified to-date.
Rare diseases are mostly genetic, and start during childhood, other causes include bacterial and viral infections, allergies, chromosome disorders, degenerative or proliferative causes.
Many rare diseases are incurable and due to unfamiliarity, highly fatal.
Take a look at some examples of rare diseases recognized globally:
Alkaptonuria – A genetic enzyme deficiency that prevents proper protein breakdown, causing dark urine, joint pain, and early arthritis.
Nodding Syndrome – A poorly understood neurological disorder likely linked to infection or immune response, leading to seizures, head nodding, and cognitive decline in children.
Fibrodysplasia Ossificans Progressiva (FOP) – A genetic mutation causes muscles and soft tissues to turn into bone, gradually restricting movement.
Pompe Disease – A genetic enzyme deficiency leads to glycogen buildup in muscles, causing muscle weakness and heart failure.
Prader–Willi Syndrome – A genetic condition affecting appetite regulation, leading to excessive hunger, obesity, and developmental delays.
Huntington’s Disease – A hereditary neurodegenerative disorder causing involuntary movements, cognitive decline, and psychiatric symptoms.
Ehlers–Danlos Syndrome (Rare Types) – A group of genetic connective tissue disorders causing hyperflexible joints, fragile skin, and chronic pain.
Guillain–Barré Syndrome – An autoimmune response often triggered by infection, leading to rapid muscle weakness and paralysis.
Burkitt Lymphoma – A fast-growing cancer linked to viral infection and immune dysfunction, causing jaw or abdominal tumors and weight loss.
Wilson’s Disease – A genetic defect causes copper accumulation in organs, leading to liver disease and neurological symptoms.
Niemann–Pick Disease – A genetic lipid storage disorder causing organ enlargement, neurological decline, and developmental delays.
Spinal Muscular Atrophy (SMA) – A genetic disorder causing degeneration of motor neurons, leading to muscle weakness and breathing difficulties.
Podoconiosis – Chronic barefoot exposure to irritant soil causes inflammatory leg swelling and disability.
Congenital Adrenal Hyperplasia (Rare Forms) – A genetic enzyme defect disrupts hormone production, leading to electrolyte imbalance and abnormal development.
Mitochondrial Disease – Genetic defects impair cellular energy production, causing muscle weakness, fatigue, and organ dysfunction.
How many of these have you heard of before? I would love your answer in the comments and trust me there are thousands more.
It took a lot of advocacy and tears to ensure I found out what was going on with Anthony. I went to every specialist and doctor I could think of and did not settle when they tried to misdiagnose Anthony. And although Batten Disease is a terminal disease, Anthony is loved and has the best life anyone can ask for. Anthony's mum, Anthony, diagnosed with Batten Disease, HEROES archive.
THE DIAGNOSTIC DELAY
When a disease is unfamiliar, it becomes harder to recognize. When a disease is hard to recognize, it becomes harder to treat. When a disease is harder to treat, it becomes an indescribable weight for the patient to carry.
Rare diseases come with lack of clarity, situations where tests keep coming back “normal” and if they don’t, there’s no understanding as to why the patient is having these symptoms.
Studies have shown that it usually takes 4-7 years and visits to around 8-10 specialists on average to simply accurately diagnose rare diseases in most cases.
This happens due to several reasons including:
The symptoms are often non-specific, masked, or mimic more common, less serious conditions.
Limited knowledge among healthcare professionals due to fewer occurrences of such cases.
Lack of access to specialized centers contribute heavily to delays.
High cost of treatment.
Ignorance and Misinformation especially in underdeveloped communities.
Then you would wonder how affected people actually survive. The impact of diagnostic delay and lack of immediate, affordable care causes great worsening of disease, inappropriate medical interventions, and significant mental health issues for patients and caregivers not to talk of crazy expenses.
I cannot imagine how exhausting it must be to be sick without explanation or intervention, yet millions of people face it every day.
The biggest challenge I’ve had to come to terms with is that I had to live life differently from everyone around me. That I couldn’t always do what my friends were doing. That I struggled trying to follow the ‘normal’ pattern in mundane things like commuting, eating, sports, clothes, to name a few. Nicole, diagnosed with WILD syndrome, HEROES archive.
THE PART WE DON’T TALK ABOUT: EMOTIONAL & SOCIAL COST
Having a rare disease does not just affect organs or cells, it affects identity.
Research shows that 90% of study respondents felt anxious, stressed, or depressed due to their rare condition. Furthermore, up to 36% of patients and 19% of care givers have experienced suicidal thoughts.
There’s having to explain your condition time and time again, that alone is highly frustrating. Then there’s dealing with unbelievers and insensitivities of society.
People with rare diseases are often left lonely, imagine the social isolation that comes from cancelling plans again and again because your body simply cannot cooperate.
They also feel like no one understands what they’re going through, that’s a lot of emotional weight for an individual to carry for no fault of theirs.
To make it all worse, there is the financial strain of ongoing tests and treatments usually over the capacity of the family affected, cue the pain of feeling like a burden to your loved ones..I’m torn.
Many patients with rare diseases become experts in their own condition, not out of curiosity, but out of necessity. They research. They join online communities. They memorize medical terms. They learn to advocate for themselves in rooms where they should have felt safe. It’s honestly heart breaking.
The rare disease journey is difficult. We ask that you show us some love and patience. Show up and ask what we need. Be there for us, even if you may not know us well. Say our children or loved ones’ names, talk about them. Get to know them. Support our efforts to push and fund research. We’re doing everything we can to save our babies and we can’t do it without you. Riaan Family, Riaan 2 years old, diagnosed with Cockayne Syndrome, NORD.
WHY RARE DISEASE DAY MATTERS
Rare Disease Day matters because awareness is often the first step toward survival. When a condition is rare, it is more likely to be misdiagnosed, dismissed, or diagnosed too late, not because doctors do not care, but because systems are built around what is common. Visibility changes that.
It pushes rare conditions into medical conversations, research agendas, and public consciousness.
It reminds healthcare providers to listen more closely when symptoms do not fit neatly into familiar patterns.
It encourages researchers to ask questions that have long been ignored and for patients and families, it offers something just as important as treatment: Validation.
The simple acknowledgment that their experience is real and worthy of attention. We all have a role to play by sharing accurate information, supporting advocacy and research efforts, listening without judgment, and creating spaces where people feel safe to speak about their health without fear of being minimized.
Rare Disease Day is not just about numbers or diagnoses - it is about dignity, equity, and the belief that no illness should be overlooked simply because it affects fewer people.
Heyyyy, It's Jojo,
Thank you so much for reading this, you're helping these people already just by being more aware, I would love to hear your thoughts in the comments!
Have a brilliant sparkly week ahead!
Rare only means that it's important to shed more light on them. And that, is what you have done. Truly a beautiful read
This really moved me. Rare doesn’t mean insignificant, and you captured that so well. The empathy in this piece is just as strong as the medical insight. You’re doing important work here👏✨