Portrait: Rhys
This is my story about an acquired neurological condition which was estimated to affect around 1 in 3 million people when I received my diagnosis in 2016. Now, current estimates suggest it could be much more prevalent and affect around 1 in 2000 people, which makes it a borderline rare disease in the United Kingdom.
A little bit about Rhys
I’m Rhys, aged 34, I previously worked in car insurance and was also a musician in my spare time. Growing up, I was an avid footballer but had to stop playing due to having an operation to remove a brain tumor from the back of my head. My dad then bought me a guitar to fill the void that had been left after having to give up my passion of football. This is my story about an acquired neurological condition which was estimated to affect around 1 in 3 million people when I received my diagnosis in 2016. Now, current estimates suggest it could be much more prevalent and affect around 1 in 2000 people, which makes it a borderline rare disease in the United Kingdom.
A rude awakening
Having not long started a new job in car insurance, I suddenly found myself completely deaf in my right ear. I was awoken in the middle of the night by a painful headache, accompanied by hearing loss and screeching in my right ear, which felt popped as if I were taking off in an aeroplane. After some painkillers, the headache subsided and I went back to sleep, but the hearing loss and popped ear sensation would remain when I woke up in the morning. Little did I know this would be the beginning of a journey which I will remain on for the rest of my life.
Appointments, tests, and a diagnosis
Over a year later and I finally had a diagnosis, but it wasn’t easy to come by. It took numerous trips to A&E, appointments with multiple doctors in various disciplines, such as ENT, neurology, neurosurgery, rheumatology, and ophthalmology. Whilst I was attending all these appointments, my current symptoms were worsening and new symptoms appearing, including progressive hearing loss in my other ear, dizziness and imbalance and an onset of double vision amongst others. The fourth neurologist I saw carried out a series of lumbar punctures which showed ‘old blood’ in my spinal fluid and an MRI scan showed iron deposits on my brain. I was given the diagnosis of superficial siderosis.
What is superficial siderosis?
Superficial siderosis is a rare neurological condition caused by persistent bleeding into the cerebrospinal fluid or CSF (the fluid which the brain and spine bathe in). The body releases a protein called ferritin which is a neuroprotectant, but eventually ferritin production becomes overwhelmed and neurotoxic free iron from the blood can then freely circulate the central nervous system via the CSF, causing damage to neural tissues and cranial nerves. The most widely reported symptoms are hearing loss, ataxia and myelopathy.’
Rewinding the clock
My neurologist told me he would carry out another MRI scan to look for the source of bleeding into my CSF. He explained that superficial siderosis can be found in patients who have had neurosurgery or trauma to the head or spine. Having been well for many years, I had no idea that an operation I had to remove a brain tumour when I was eight years old would come into question. Eighteen years after the operation that saved my life, the repercussions of brain surgery had come back to plague me in the form of superficial siderosis.
Plugging the progression
Thankfully, when I was rushed into hospital with complications of raised pressure in my head (which can be fatal if left untreated), I met a new neurosurgeon who took over my care. He carried out a cranioplasty to plug the hole at the back of my head that had been left after I had the brain tumor removed when I was eight years old. Not only did the operation stop a leak of spinal fluid at the back of my head, but also stopped the bleed that caused the superficial siderosis. I did however endure further problems with intracranial pressure, but my hero surgeon also sorted these by performing an endoscopic third ventriculostomy (ETV), where a hole is made in the third ventricle of the brain so CSF can drain and reduce the pressure.
Stabilization
Since having the cavity at the back of my head closed, I’ve had a few lumbar punctures which show my CSF is now crystal clear with no blood, and the ferritin level continues to reduce. Ferritin is used as a biomarker to determine iron levels in either blood, or in this case CSF. Just knowing this is a huge mental boost, but I know I still need to manage the multiple symptoms that I am left with. I’m also taking a drug which can cross the blood brain barrier and chelate (remove) the iron. I’m confident the surgery, and the medication are complementing each other and keeping me stable.
Determination
After using a wheelchair for a few years, I had to relearn to walk again and daily physio and balance exercises are a must to maintain this. It’s quite a full-on task having to plan my day around the symptoms including chronic constipation, nerve pain and fatigue, which I currently rate as the most bothersome three. By the end of 2018, I was completely deaf in both ears, but in April 2023, I had a cochlear implant inserted. The cochlear implant has given me the ability to communicate by conversation again, but it’s still not a replacement for natural hearing, as much as I want it to be. As a former musician, I really miss playing in bands and writing songs but I’ve come to the realization it’s not going to be possible, at least not until technology improves, which I’m hopeful it will one day.
Making connections
Talking to other people who have superficial siderosis has been a huge part of the recovery and learning process. We share our stories, coping methods and discuss our problems. Now that I have stabilized, through the Superficial Siderosis Research Alliance, I do what I can to give back to the community that helped me get to where I am.