By Rhys, Superficial Siderosis, United Kingdom, February 5, 2020
When I was 8 years old I was diagnosed with a brain tumour at the back of my head. I was rushed to the hospital to have it removed. The neurosurgeons advised the tumour was benign, and the consultant told us it was a textbook operation. A day after being discharged I was readmitted with meningitis, and following multiple types of antibiotics the doctors finally managed to clear it. For the next three years I was pretty good, enjoying school and playing football for my local side, Newport school boys and training at Cardiff City Soccer School of Excellence.
In 2001 at 11 years old I started to get similar symptoms to when I had the tumour, and found myself back at the neurosurgery ward in Cardiff. I was told I had a condition called hydrocephalus in which my brain was producing too much Cerebral Spinal Fluid (CSF) and that I would need to have a drain inserted to relieve the pressure. A VP shunt was then inserted which relieved my symptoms completely. Between 2002 and 2004 the shunt blocked 3 times and I had to have it ‘revised’, each time bringing on the same sort of symptoms as before. In 2004 the surgeons added a second valve to the shunt which seemed to stop the issue of it blocking. I was finally symptom free and could get on with my life.
For the next five years I was doing well, achieving good grades in my A levels, and studying on a popular music course at university whilst playing the guitar. Seeing all my favourite rock and heavy metal bands all around the UK was my main hobby at the time. Unfortunately I contracted bacterial meningitis, in which the neurosurgeons were uncertain of the cause. Following this I decided to drop out of university as I had missed too much. I then went full time in what was previously a part time job.
Things were going pretty well for me in 2015; I’d just started a new job working in car insurance which I was really enjoying, and my rock band was also starting to take shape. I had minor hearing loss from what the doctors told me was likely to be from the episode of bacterial meningitis that I had in 2009. Even with the hearing loss, I was managing to get by using hearing aids to compensate for the difficulty I had understanding speech. I was really looking forward to gigging with my band and progressing in my new job.
It wasn’t until August 2015 I began to notice that something wasn’t right. I was on a team building afternoon out at an archery range with my work colleagues; but when pulling back the bow string I began violently shaking, mainly from my legs. I had a few goes, but still I persisted to shake until the instructor took the bow out of my hands for health and safety reasons. An elderly gentleman who was watching passed me a large bar of Tesco Value milk chocolate, in case I was shaking due to low blood sugar level. Eventually the shaking calmed down and I was able to take part in the next event which was clay pigeon shooting.
A month on into October and I hadn’t had any more shaking experiences like on the afternoon out with my colleagues. After finishing work around the end of the month, I woke up in the middle of the night with screeching in my right ear, pain at the right hand side/back of my head, and my right ear felt like it was popped. I took some paracetamol and went back to sleep as soon as the screeching and pain had died down. Upon waking up in the morning my right ear was still popped, but whatever I did I couldn’t un-pop it. Due to this I booked an appointment with my local audiologist who tested my hearing and confirmed a 20 decibel drop in my right ear. He then wrote a letter to my GP advising a referral to the hospital ENT unit.
Before I managed to get a referral to the hospital, I was in work and my colleagues noticed my balance seemed way off. Around the middle of November 2015 I still hadn’t had my referral to ENT and my team manager advised I should go to A&E. Upon attending A&E I was seen by multiple doctors, and the prognosis was that I would be kept in for monitoring and testing. I underwent multiple CT scans, a lumbar puncture, CT angiogram and my ears were checked by ENT. They couldn’t see that anything was wrong except that there was fluid in my right ear for which I was given a steroid nasal spray. Before I could start the steroid nasal spray my VP shunt blocked, which was confirmed by another CT scan. I was then blue lighted to the University Hospital of Wales for an emergency shunt revision.
After surgery I can remember waking up in a cubical and a nurse bringing me toast. I said ‘thank you I love marmite’ only for her to say there was no marmite on it, and offer me fresh toast as it was burnt. A day later I was discharged from the hospital.
Even after the shunt revision my symptoms persisted, my ear was still popped and appeared to be getting worse. My balance was all over the place and at the beginning of January 2016; my GP then sent me to A&E as I had not had a follow up with the neurosurgeons. A CT scan and other tests were carried out but no cause was found for my symptoms. I gradually got worse and my GP again sent me to A&E where I finally got a referral to see a neurologist for further investigation.
During the consultation with the neurologist I can remember him saying his car was stolen and we were interrupted by a phone call from his car insurance. He apologised, and advised I would see a second neurologist within his team to get a second opinion, as they could still not work out what the issue was.
By the time I saw the next neurologist I had now developed double vision. I might have had it slightly before, but I mainly noticed it looking left whilst waiting for the bus to work (as I had to surrender my driving licence due to the neurosurgery). I told the neurologist that I had this onset of double vision, in which he carried out a series of eye examinations and confirmed it, stating it is possibly a 6th nerve palsy. He advised he would write to his colleague to suggest carrying out a lumbar puncture to see if it relieves any pressure behind my eyes.
In April 2016, I then had the first appointment with the neurologist who’s care I am still under. He went through my symptoms, medical history and devised a plan which included carrying out a lumbar puncture as suggested by the second neurologist. I’d started to notice my sense of taste and smell were also weakened by that point, and was having great difficulty carrying a coffee at my favourite coffee shop due to my balance. Over the next few months my neurologist carried out a series of lumbar punctures and was particularly interested in the yellow tint in my CSF (Cerebral Spinal Fluid). The various junior doctors carrying out the lumbar punctures would always show me the sample and ask if it’s normally this colour.
Toward the end of September 2016 following my most recent lumbar puncture, I began to feel unwell suffering from vomiting and dizziness. My parents called the hospital and my neurologist saw me straight away and admitted me to the neurology ward. One of the neurosurgeons then took CSF directly from the shunt reservoir in my head. I was told that I would be having an MRI scan in due course, and my neurologist had told me he was suspicious of thickening at the back of my head that showed on a CT scan.
Eventually after a few days (which seemed a lot longer than it was) an MRI scan was carried out, and my neurologist informed me he thought he knew what is wrong. I was advised that there was iron deposits on my brain, and that was most likely to be the cause of my hearing loss amongst other symptoms (kind of ironic as I was always a metal head when it came to music and my favourite band is Iron Maiden). I was discharged and told I would get a follow up very shortly.
At the beginning of October 2016 I had an appointment with my neurologist to discuss the findings. He advised me I had a really rare condition called Superficial Siderosis and told me to look up the charity called ‘The Silent Bleed’, and he would discuss the diagnosis with my consultant neurosurgeon. At the time I was really relieved to get a diagnosis, but I did not expect anything of which was to come in the near future. After looking into the condition I could see that the iron deposits on the brain were caused by a slow often intermittent bleed leaking into the Cerebral Spinal Fluid. The spinal fluid becomes almost saturated with blood that it cannot clear the blood product completely, thus causing the iron to settle on the brain and spine.
A short while later I had a full MRI of my spine and was told I had a pseudomeningocele (abnormal collection of CSF) at the back of my head. My neurologist advised he would discuss with my neurosurgeon about closing the pseudomeningocele at the back of my head, and that it was caused by operation to remove the brain tumour when I was 8 years old. The surgeon offered me an operation but advised the risks were really high, and we agreed I would start medication to remove the iron from my brain beforehand. The risks I was given involved brain damage and the back of my head collapsing (hence why I turned down the operation).
The medication is what is known as an iron chelating agent. The biggest issue is that it is taken orally and will more than likely target the blood before it can get into the central nervous system. Although this is a big issue, the drug is one that can penetrate through the blood brain barrier, giving superficial siderosis sufferers some hope of it working. A strict diet is needed, and the world leading expert recommends not eating iron two hours before or two hours after taking the drug so it does not bind to iron in the stomach. Regular blood tests are also carried out to ensure that the blood iron has not been depleted too much, potentially causing anaemia.
Fast forward into 2018, I had a new surgeon and a CT cisternogram (dye inserted into the spine to help show up any leaks) was carried out and confirmed a leak at the back of my head at the pseudominigocele. By now I was completely deaf and had left my job due to the issues of the condition. My surgeon advised he would close the pseudomeningocele at the back of my head using a PEEK implant. Obviously I was a bit worried due to the risks I was given in 2016 from my previous surgeon. My new surgeon reassured me this was a much safer operation and the risks were much lower. The operation was carried out by my surgeon and his registrar (who I had previously met in 2016 when he took fluid directly from my VP shunt), I was then discharged following a further CT cisternogram which showed the leak had stopped.
In September 2019 I underwent another lumbar puncture which showed my CSF was completely clear, suggesting closing the pseudomeningocele had stopped the bleed (and source of the Superficial Siderosis) at the back of my head. Now I can concentrate on other matters such as taking the drug to remove the iron from my brain and spine, but until the iron is completely removed my condition will continue to deteriorate as the iron is toxic to the nerves in the brain and spine.
Superficial Siderosis affects around 1 in 3 million people worldwide, but with modern MRI technology more people are being diagnosed all the time. It’s a neurodegenerative condition, meaning that it will progress over time.
These days I spend my time exercising and battling the endless symptoms of the condition. I also spend a lot of time liaising with fellow sufferers here in the UK around the world, sharing stories and advice. A new charity, the Superficial Siderosis Research Alliance, has recently been created in the USA, giving further hope in finding improved treatments and a cure.