This week’s blog is written by Rhys Holmes, who you may know from Drug Repurposing for Rare Diseases 2022! Rhys was diagnosed with the rare neurodegenerative disease superficial siderosis.
He joined us at #DrugRepo22 to share his rare journey about losing his hearing and how an off-label drug, deferiprone, has improved his quality of life. Rhys summarises his experience at our Drug Repurposing for Rare Diseases conference below!
A change of direction
Unbeknown to me; for many years I’d been living with the rare neurodegenerative disease superficial siderosis, but it wasn’t until 2015 that the symptoms really began to show.
My life at the time heavily revolved around music. I’d played in bands, attended concerts and festivals; it was my sole ambition and hobby. Music was all I ever did and all I ever wanted to do, so when the hearing in my right ear suddenly plummeted, I knew things were about to change and I had to make the most of hearing that I had left.
I resorted to playing acoustically at open mic nights as I struggled to hear in a band environment; but sadly, it wasn’t long before I was profoundly deaf in both ears.
Everything had changed. Countless medical appointments, whilst painstakingly watching my work life, social life and life ambitions fall apart. I was at rock bottom, but once I finally had the superficial siderosis diagnosis my neurologist directed me to a patient group on social media.
Joining the small community online had given me a chance to embark on the new adventure of research, awareness and improving things for the superficial siderosis community, through the Superficial Siderosis Research Alliance (SSRA).
Superficial siderosis is a neurodegenerative disease in which blood infiltrates into the cerebrospinal fluid (the fluid which bathes the brain and spine). Chronic or intermittent bleeding, over many years (often decades) will eventually overwhelm the body’s capability to remove the full blood product.
This enables toxic iron molecules to freely circulate the central nervous system, causing damage to the underlying brain tissue. Not all patients will suffer the same symptoms or the same severity of symptoms, this is believed to be due to location of tissue loss from the toxic effects of the free iron. Some of the most widely reported symptoms include hearing loss, tinnitus, ataxia, balance, and gait issues.
It was my friend Fiona who lives just outside Melbourne that told me about the fantastic work Beacon is doing. Fiona also has superficial siderosis and I met her through the online community. Once I had a look at the Beacon events and saw the drugs repurposing conference, I instantly thought that it was right up our street.
The only treatment available for superficial siderosis is deferiprone, an iron chelator that can cross the blood brain barrier to remove the toxic iron molecules from the central nervous system. It’s off-label for use in superficial siderosis but I’m more than confident that it helps to slow down the degeneration of the condition.
I decided to send an email merely to enquire about the drugs repurposing conference and soon found myself on a video call with Rick and Mary Rose, who invited me to attend as a speaker. It had been roughly 6 years since I’d last been on stage, so having the opportunity to publicly share my rare diagnosis story was both nerve wracking and exciting; especially now that I’m profoundly deaf! I’m quite an ambitious person and was never going to let the nerves get the better of me, so agreed to speak at the conference.
Drug Repurposing for Rare Diseases 2022
My mum and I set off on the Sunday and had booked a hotel a few minutes’ walk away from the conference centre so we could get there first thing on the Monday morning. It worked out perfectly for me because of the mobility issues I have due to the superficial siderosis.
Navigating using a sat nav is next to impossible without having hearing, especially in a busy place like London. My mum kindly drove to London, and what is usually a 3-hour journey from South Wales, ended up being 6 hours due to road closures, so we were both shattered upon arrival.
After having breakfast at the hotel, we walked over to the conference centre, checked into the venue, and were given lanyards. Hannah showed my mum and I into the room where there were stands from various organisations such as LifeArc, University College London (UCL), Medics4Rare Diseases, Rare Revolution Magazine and of course, Beacon.
I brought my laptop along so I could connect to the live stream and enable closed captions to follow the conference. After setting up the Zoom feed on my laptop and saying ‘hello’ to Rick and a few others, my mum and I went into the conference room.
The conference started with an introductory speech from Rick, which straight away grabbed my attention, and confirmed to me that it was going to be a very meaningful event.
The live stream and captions proved to be the perfect counter to my hearing loss. With only one or two mis-captions, although it wasn’t too hard to work out what ‘Bacon for Rare’ was.
Every person that got up and spoke had something that I could relate to, and it was also a learning curve for me. The LifeArc repurposing medicines website is so relevant to what we are doing within the Superficial Siderosis Research Alliance, and I found myself amassing notes to make sure I had all the information to take away with me.
Some of the other elements that stood out to me were the covid nasal spray talk, and when Rosie Lovett, Head of Medicines Repurposing Programme at NHS England mentioned about repurposing of a drug by using a different administration method.
Deferiprone is taken orally, and the only drug of its kind that can cross the blood brain barrier to chelate iron; so there has been a lot of talk about repurposing it as a nasal spray so that it bypasses the gut iron, and the bloodstream which also contains iron.
The theory behind this is that it will increase the chances of it reaching the central nervous system to remove the toxic iron that’s causing the neural damage.
During the tea break after Rosie’s speech, Hannah showed me the clicker and how to change slides, explaining that they would use a QR code for attendees to submit questions to me.
Rick told me to read the question beforehand so everyone would know what I was answering. For me, it showed that there are always ways around being deaf, and I was so pleased that Beacon came up with these great ideas.
Once I was on stage my nerves began to calm, and what was a 20-minute speech felt like it was only 5 minutes. Before I knew it, I’d finished my speech and a few questions were brought to me on paper.
One question that particularly stood out was about social media, because if social media didn’t exist, I wouldn’t have found other superficial siderosis patients, and wouldn’t be at the Drug Repurposing for Rare Diseases Conference.
When I sat back down, I was handed a piece of paper saying that LifeArc are currently carrying out a deferiprone trial for Neuroferritinopathy, saying there might be ways to bring patient groups together.
I found this particularly interesting as a few days before I’d had a conversation with Fiona, who had sent me a medical journal on Neuroferritinopathy by her neurologist, saying that he’d had previous experience with deferiprone before coming across superficial siderosis.
Making all these connections with similar rare diseases is a massive thing in my opinion, especially as we are both looking to use deferiprone to remove iron from the central nervous system.
Upon closing the conference there was a panel discussion to answer questions from attendees; again, everything was very meaningful and relevant to my superficial siderosis journey. Rick and Mary Rose then took to the stage to end the day before the Drinks Reception. A nice touch to a fantastic, well organised day, which has personally given me a huge confidence boost in this new world of deafness!