“Who do you know that has it?”

That was the question asked to my mother in the high street, after donating to a charity fundraising for research into retinitis pigmentosa without asking any questions.

At the time, it was my grandmother, who was completely blind due to this genetic, degenerative disease.

I was 8 years old when I first saw the impact of retinitis pigmentosa.

While on holiday in Zakynthos with my parents, we had booked an excursion to go to the Greek main land and visit Mt. Olympus. The excursion meant we had to leave very early in the morning to make the most of the day there, the sun not yet risen. The hotel we were staying at had a long, unlit driveway between the entrance to the hotel and the main road where the coach waited for us. While I was chattering excitedly to my mum about the adventure that awaited us, my dad was stumbling around, struggling to navigate the path and avoid decorative plants and other obstacles at the edges.

One of the first symptoms to develop with retinitis pigmentosa is night blindness, or struggling with low light contrast. I’d heard about retintis pigmentosa peripherally in conversations about my grandmother and her blindness, but never seen the impact of its development - my grandmother was already significantly sight impaired by the time I was born.

”It’s like looking up through 12 feet of water”

This is how my dad described his vision when he was officially diagnosed with retinitis pigmentosa, and officially registered as legally blind. I was 18 years old.

Now I’m 28 years old. My dad has pretty much no vision left, barely able to tell the difference between light and dark. He was once an avid technologist, playing and tinkering with computers until the early hours of the morning - even decrypting a ransomware infection by hand once when I was younger. Now, he relies on Alexa to have any form of entertainment, and on my mother for anything that Alexa can’t do - including groceries, bills, meter readings, and so much more. He can barely use the technology he spent his life learning about, but he shares his insights with me, my mum, and my mum’s students.

RP affects 1 in 3,000 to 1 in 4,000 people globally. There are three main families: dominant, recessive, and X-linked (passed on by the mother). We’ve worked out that our family’s type is in the dominant family, but the exact nature of ours isn’t something known to us.

This disease is a big part of why I’ve approached my career in cybersecurity and my education the way I have, by studying my degree alongside working and progressing my career while completing classes. While I know there’s assistive technologies available for sight impairment that improve year on year, I’m terrified of what will happen when I start to develop symptoms, of the unknown of what I’ll be able to do, of having to give up things I love simply because I cannot see them any more.

Retinitis pigmentosa, or RP, is mainly characterised by the build up of dark, bone-shaped pigment on the retina.

That’s why it’s degenerative - the pigment doesn’t just show up overnight but gradually becomes more and more over time. With my dad, progression of symptoms took 10 years to rob him of his eyesight. But RP can progress at different speeds and different ways for each person.

Because RP affects over 100 genes, it’s difficult to research. At the moment, there’s no single treatment or cure. Any trials for treatments are difficult to perform because, ideally, participants in the trials would not have the region being studied affected by other issues - but due to the number of genes affected, it’s very common for comorbidities like cataracts to occur.

There’s some promising research that taking vitamin A might slow the progression of some forms of RP, but there are mirrored concerns that high intake may also worsen other eye conditions and the evidence for this is not currently substantial. There’s also some potential treatments and surgeries for specific types of RP, but these are limited.

When my dad was officially diagnosed, I tried to seek out genetic testing to confirm if I had inherited the gene mutations that would cause the condition. The NHS weren’t able to support this request, despite my anxiety around losing my eyesight, because the genes affected cause the testing to be very specialised and therefore very expensive - prohibitively so for confirming inheritance with no present symptoms. I’ve looked into options with private testing, and most don’t test for the genes involved.

This fundraiser is in support of Retina UK, and over the month of February I aim to raise £1,000.

I will be walking, running and/or cycling 49 miles as the activity to support this fundraiser. Retina UK was originally founded in 1976, and this year is its 49th year. Due to the weather, my work schedule and safety concerns, I will be using gym machines rather than completing these miles outside.

If we reach the £1,000 goal, I will extend this to 100+ miles to represent the 100+ genes that affect RP.

At the end of each week (7th February, 14th February, 21st February, and 28th February), I will provide updates of how many miles have been travelled that week, in total, and a breakdown of which type of travel has been used for it. I will support this with photos of the gym machines at the end of a session with the current date visible on a piece of paper to keep accountability.

At the end of February, I will personally donate £2.50 for every mile below 49 miles travelled. If we reach the fundraising goal, I will personally donate £1 for every mile between 49 and 101. This is a personal penalty if I fail to reach the activity goals for this fundraiser; if I don’t complete any miles I will add an additional personal donation of £25.50 - the maximum penalty donation I will personally be responsible for will be £200.