My Life With Superficial Siderosis

In 2016 I was diagnosed with Superficial Siderosis, a rare degenerative neurological condition which is caused by bleeding into the cerebrospinal fluid over a sustained period of time. I had a brain tumour removed from the back of my head in 1998 when I was eight years old; this is believed to be the cause of my Superficial Siderosis.

The blood which leaks into the cerebrospinal fluid eventually overwhelms the body’s capability to remove it completely, leaving iron deposits on the surface of the brain and spine. The iron is toxic to the nerves of the central nervous system (CNS) and causes all sorts of mostly irreversible, damage.

In 2018 I underwent an operation to seal the back of my head. It appears to have stopped the leakage of blood into my cerebrospinal fluid. The issue I have now, like most people with Superficial Siderosis, is removing the iron from my brain and spine, as it will continue to cause deterioration until it is completely gone. Sadly not every sufferer can have their bleed location found, or if it is found, it may not be operable.

There is currently no cure for Superficial Siderosis, and the only treatment available is a drug called deferiprone which can cross the blood-brain barrier to chelate (a process of removing metal from the body) the iron. Although this is good news, it takes many years to remove the iron, and deterioration will continue until the iron is entirely removed.

Some patients cannot tolerate the drug for various reasons, and even if a patient can take deferiprone, it doesn’t come without its risks which can potentially be life-threatening. Deferiprone will not just chelate the iron attached to the brain and spine; it will also remove iron from the blood and may cause anaemia. Another severe side effect is neutropenia, which is the lowering of a specific white blood cell that fights off infections, are also a known side effect of deferiprone.

Not everyone with the Superficial Siderosis will have the same symptoms; it is dependent on the amount of iron on the brain and spine, as well as the location of the iron. Sufferers may also have different severities of the symptoms, again depending on how long the iron has been in a specific area. One of the most common symptoms among sufferers is hearing lossOverview In approximately 95% of superficial siderosis patie.... Other symptoms may include double vision(diplopia), ataxiaOverview Ataxia is considered a symptom of your superficial ... (muscle coordination problems), headachesOverview It is challenging to pinpoint the exact cause of su..., loss of smell (anosmia), neuropathic pain (nerve pain), bowel and bladder function and much more.

My daily life

Getting into a routine to combat and minimise the persistent symptoms was one of the hardest things I have ever had to do. Due to my complete deafness, I cannot hear the alarm on my phone, so I had to invest in an alarm clock with a vibrating pad which goes under my pillow. It can give me quite a fright, but at least it wakes me up. Back a few years ago, when I was able to work, I was slightly late on one occasion as I did not hear my alarm go off; I had previously never been late for work.

I have to put my glasses on straight away, as I have short-sightedness and double visionOverview Diplopia, commonly known as double vision, happens ... which can make me feel very nauseous. I also have slight nystagmusOverview Nystagmus involves the involuntary and uncontrolled..., which is the involuntary movement of the eyes.
It takes a while for me to come around after waking up due to the extreme fatigueOverview The brain plays a crucial role in regulating sleep ..., and the constant tinnitusOverview Tinnitus, often experienced as a soft indication of... never fails to remind that I have Superficial Siderosis. Once I do come around (which takes about an hour) I get up and have my breakfast which consists of an iron-loaded smoothie (to help keep my blood iron level intact and counteract the deferiprone) and a high fibre cereal to maintain bowel movement. I also take a tablet to help with bowel movement.

Exercise is essential to remain as mobile as possible, even more so with Superficial Siderosis. I try to exercise twice a day to stop my legs seizing up, starting with stretches to get my joints and muscles warmed up. I can’t run anymore, so walking on the treadmill is ideal, but even then, I still need to hold onto the handrails due to my poor balance. The issue with walking around the estate is that I don’t know how far I can go before my legs give up; at least with the treadmill I can stop when I need to.

I also use the stationary exercise bike and do exercises using dumbbells. A morning and evening exercise session is always my aim, but sometimes it’s impossible with the pain and fatigue. Once I’ve finished exercising, I drag myself for a shower and have a bit of a lie down to recover.

At 10 am, two hours after my breakfast, I take the first dose of deferiprone. The deferiprone regime is extremely strict as the drug must be taken with a two-hour window on either side of eating iron, zinc and vitamin C. For example, if I have my breakfast just before 8 am, I will take the deferiprone at 10 am and then can eat again at noon. The reason for this is the drug will bind to any iron or zinc in the stomach from recently eaten food. Still, as Superficial Siderosis is iron on the brain and spine we need to avoid this as best as possible, so to give the drug the best chance of reaching the iron in the central nervous system it’s best to wait for food to digest first.

After I’ve taken my deferiprone, I’ll have a cup of green tea which is anti-detoxing. Green tea is known to cross the blood-brain barrier, but it is not known whether it can help with Superficial Siderosis iron deposits. There are currently theories about it helping, but until they’re disproven, I’ll continue to drink it as I wouldn’t say I’m a fan of it.

Most of the day then, I will either be attending or chasing hospital appointments, but because I’m entirely deaf I’m restricted to using email to chase these unless my mum is around to use the telephone for me. I have my blood taken once a month to monitor the iron levels and white cells to make sure they are not depleted from the deferiprone. My veins are so poor it usually takes multiple attempts before the nurse or doctor can get any blood, I’ve even had to go back a different day on a number of occasions as they have not been able to take blood.

Obviously, the condition never switches off. It would be nice, but it just doesn’t happen. If I think about it too much or try to relax, I get overwhelmed by various sorts of tinnitus, hissing, buzzing, humming- all sorts of sounds. Sometimes I even get musical hallucinations where the tinnitus sounds like it’s playing a song, usually songs I’m not a fan of.

The headaches are also on and off all day, sometimes getting to a solid 10/10 where I need to take pain killers and lie down. I generally find pain killers don’t help at all. I’ve tried all sorts from opioids to neuropathic painkillers, I now take only paracetamol and ibuprofen and hope the headache eases after lying down.

My social life has completely gone backwards; I was previously an outgoing person and liked to get out of the house to be with friends. I use a wheelchair a lot of the time when I go out. As with exercising, it’s impossible to know how long I can stay on my feet. I am also very unsteady on my feet.

My passion, music, was completely taken from me due to the hearing loss, so I can’t do that anymore. Luckily, we have social media so I can stay in touch with my friends; otherwise, I would be even more depressed than I already am from having this condition. As well as having impacted my social life, I can’t go out on my own due to the deafness and mobility issues which on their own wouldn’t be as bad, but together they are much worse. My mum takes me out now and again. I have also lost the ability to drive as it would be dangerous for both myself and other road users.

I do have moments where I try to relax a bit, but they are few and far between. I like to write, and play video games as I find they have much better subtitles than the television. The only things I really watch on the TV are quiz shows and football (soccer for those in the U.S), as I don’t need subtitles for the latter. I have my dinner around 5 pm-6 pm, again with high iron food or smoothie, and lots of vitamin C, which helps to absorb the iron.

Going to the toilet is another chore, due to the damage caused by the iron on the tenth cranial nerve which controls the digestive tract, including the bowel muscles causing severe constipation. I have a high intake of vitamin C and insoluble fibre to help with this. I’m currently seeing a nurse who specialises in this sort of issue with people who have spinal injuries.

I get my second daily exercise at around 8 pm and do the same sort of routine as in the morning. At around 10:30 pm, I’ll take my second dose of deferiprone. I read a book to try and switch off to fall asleep. Continuous tinnitus, pain and anxietyOverview Superficial siderosis progression may have profound... make falling asleep both hard and frustrating.

This is pretty much my routine Monday to Friday, but even when I’m trying to relax on the weekend, the symptoms don’t go away.
It’s not fun. It’s not nice, and it makes every day a chore. But I’m determined to keep going and help others. We live in exciting times regarding medical technology and research. I’ve made some wonderful friends across the world who are going through the same thing, which gives me a huge mental boost. I’m hopeful we can improve quality of life, and treatments for all the sufferers of Superficial Siderosis and to help others get a diagnosis a lot earlier, so they have a better chance to limit the progression of the condition.

You can learn more about Rhys diagnosis journey here.