I feel like this is where we sit in a circle of chairs and I get up and say: “Hi, my name is Marius Scheepers, and I have Homozygous Familial Hypercholesterolaemia” …
This year I turn 52. I am blessed with an amazing wife and kids (11-year-old twins). Life has always been a bit of a rollercoaster between peace and frustration about why I have this condition and the impact it has had on my life. I’ll share more on that in a bit.
I hope there’s no judge or jury around as the following is hearsay: I was initially diagnosed at the tender age of 2, according to my mum. She noticed I had some yellow growths on my heels and, being a nurse herself, took me straight to our GP – this was back in 1975.
My mum told the GP I had warts and asked if they could be removed. He turned around and said he thought I might have a cholesterol problem – and as they say in the movies, that’s where my journey began.
We were referred to the Johannesburg Children’s Hospital (yes, South Africa – another story for another time). There, we met Dr Harry Seftel. After some blood work – and a two-year-old only has a limited supply – it was confirmed that I had Homozygous Familial Hypercholesterolaemia and was the “beneficiary” of the Double Afrikaner gene. As payback, my parents were also subjected to needles and tubes of blood being drawn, which confirmed they both carried the Single Afrikaner gene. So I was the (un)lucky one. My older brother was also diagnosed with the single.
Over the last 49 years, I’ve been on numerous cholesterol-lowering medications. My earliest memory was the dreadful Questran – if you’ve had it, you’ll know exactly what I mean. I officially became a guinea pig, participating in trials for medications I can barely remember. I have faint memories of high-dose vitamin E, which was like chewing Smarties – though not as tasty.
I spent more time in clinics than at school (which, to be fair, most kids wouldn’t mind), but having needles stuck in my upper arm every two weeks due to a shunt for apheresis was not exactly a fun day out.
In 1988, four of us were fortunate enough to travel to the USA to take part in a trial for a new drug identified during chemotherapy treatment, which showed LDL-lowering effects. For a few weeks, we had a central line inserted and were fed the drug using a device that looked like a Walkman (this was the '80s – no iPods back then).
Around that time, statins emerged – a real breakthrough, delivering reductions rarely seen before. Progress accelerated through the ’90s into the new millennium. Then, around 2015, came another game-changer: PCSK9 inhibitors. I still remember learning how to inject myself – the nurse gave me an orange to practise on. I thought, Wow, that’s a nice change from the usual biscuit at clinic! But I didn’t get to enjoy it. I wiped it with an alcohol swab, injected it with copious amounts of water, then prepared to inject myself. It felt like an episode of Fear Factor.
My school and formative years were hugely affected by the many treatments I had – missing classes for appointments and early morning blood tests. It put me at a disadvantage academically, though I can’t blame everything on HoFH.
I did become quite rebellious about the condition. At age nine, I lost my dad to a heart attack. He was only 43 – in the prime of his life. Losing him was a massive blow, especially being told I might not live to see 18. I wasn’t allowed to do contact sports or overexert myself. No rugby. No cricket (though I played anyway and even made the first team at primary school). I ended up playing chess… Is that even a sport?
Speaking of rebellion – when I left school and moved out, I joined a cricket club and played every weekend. I was a wicketkeeper until the age of 31, when reality hit. I had to undergo triple bypass surgery. My body had had enough. That was a huge wake-up call – and five years later, I needed an AVR (Aortic Valve Replacement).
During those tough years, I met the most incredible, compassionate, and strong woman. She supported me fully, accepted both me and my heart condition – including Homozygous Familial Hypercholesterolaemia. She gave me the greatest gift of all: our twins. They are the absolute apple of my eye.
So how did HoFH affect my career? I worked my way up in my first job – from Purchasing Manager to General Manager – back in South Africa. Work always has its ups and downs, but I was always honest with my employers about my condition. Whenever I had to go for tests, I’d pre-arrange early appointments so it didn’t interfere too much.
I moved to the UK in 2018 for work. I was upfront in my interview – not because they asked, but because I felt it was important. In August 2020, at the height of Covid-19, I had my first heart attack. It was a complete shock – for me and for my wife and kids. I was on a work visa, so if something happened to me, they’d have to return to South Africa – where we had no safety net. My workplace was fantastic – supportive, compassionate, and made sure I only returned once I’d fully recovered. They also supported my family throughout.
One of my biggest dreams growing up was to become a pilot. I’ve always loved aviation. But with HoFH, I’d never pass the medical exams required to be a commercial pilot. So I did the next best thing: flight simulation. It’s been my hobby for many years – the dream just changed shape.
Now, at 51, after a lifetime of drug trials (it's a wonder I don’t glow in the dark), I stand proud – like the Eiffel Tower – a beacon of LIFE. During Covid-19, I lost both my mum and brother. So after being told I wouldn’t see 18, here I am – the only one still standing from my immediate family. For that, I thank God.
Medical science is progressing at such a pace – new treatments and breakthrough drugs are becoming increasingly common. I believe a cure isn’t too far away. The possibilities ahead are truly exciting.
What are my hopes and dreams?
I think I’m already living them.