Narratives

On this page, several patients share their experience of living with infratentorial superficial siderosis (iSS)

Narrative 1

"After a sudden drop in my right sided hearing, I knew something was wrong. My audiologist made an urgent referral for me to be seen by ENT at the hospital. My local hospital carried out numerous tests, but due to my VP shunt blocking I was rushed to another hospital for neurosurgery to revise/unblock it. My symptoms persisted to worsen and I was now struggling with my balance and persistent headaches. My neurosurgeon at the time could not find any issues, and my CT scans were all okay. It wasn’t until I saw a neurologist at my local hospital that he noticed I had slight double vision, so he referred me for a lumbar puncture. My current neurologist undertook the lumbar puncture at the University Hospital of Wales. The CSF samples had a yellow tint to them, and I was told this was old blood. After a few more lumbar punctures were carried out showing my CSF was yellow, I had an MRI scan which showed hemosiderin deposits on my brain. My neurologist then diagnosed me with superficial siderosis." 

Rhys Holmes

You can also watch the video here

Narrative 2

"The future of your life should be full of hope and opportunity. Big dreams and aspirations. When you’re staring down the barrel of a gun, the future feels bleak. I am facing more hearing loss, the possibility of developing ataxia and a lifetime of migraines, medication and constant doctors appointments. Living with something like superficial siderosis is bleak. It takes away hope, it takes away independence. Ultimately it is miserable.

On the flip side, you do find that you want to take every opportunity to live your life to the fullest. So, paradoxically you have a chance to develop a strong positive outlook as a result of the diagnosis."

Narrative 3

"The experience for me has been quite constant and consistent. Balance remains my number one issue and concern. I rely on crutches which is not always easy, but obviously a need. My bladder function has also become affected and I really hope it does not get any worse. I am still quite young and have two children that depend on me, I just hope this rare condition does not make my health deteriorate too fast."

Narrative 4

"I consider myself fortunate that my condition is not as severe as others who have been diagnosed with superficial siderosis. My concern is that my symptoms may worsen, debilitating me further and adding other complications from the long list of known side effects. At the moment my condition is manageable and I’m hoping that I can continue with my independence and cope through to my elderly life.

In the summer of 2013 my head and neck pain became unbearable. Initially, this seemed quite normal. Occasionally, pain from an operation on my spine in 1995 would flare-up but this was different, the sudden stabbing pain was intense and more frequent than usual. Compounded with hearing and worsening balance, overall, I was feeling very low. I wasn’t sleeping, was always tired and couldn’t concentrate at work. 
It wasn’t until the following summer, after numerous visits to my GP surgery, that a request was made by a sympathetic doctor to see a neurologist. It was thanks to Dr. Oliver, the neurologist at St. Thomas’ Hospital, that the superficial siderosis was diagnosed after having an MRI. Together with Prof. Werring, a series of tests followed to assess my condition and established that the C1 ependymoma in 1995 was the probable cause. 
I have since been attending Dr. Oliver’s clinic where my condition is constantly reviewed for any changes to my wellbeing. I am grateful to everyone involved in the care and support I am receiving.

Dexterity & Strength
My dexterity allows me to do most tasks but the numbness in my fingers and fluidity in my hands and arm can make it difficult. Tying shoelaces, doing up shirt buttons, typing or writing are simple tasks that need to be deliberate and require concentration. As a result, I sometimes become very frustrated at not being able to do the tasks quickly or well enough. The strength in my arms and legs is also weaker. I struggle when standing for long periods, going up flights of stairs or lifting “heavy” objects.

Hearing
I have a hearing aid and was doing well but because of pain to my inner ear, I’ve not been able to use it regularly. This, I hope can be resolved once Covid allows it. For now, repetition is the norm. Trying to follow a conversation in a crowded and nosy environment is difficult and missing or misunderstanding words or sentences can be embarrassing. As for the tinnitus, this is very mild but is present at most times during the day and it’s not too much of a problem sleeping with it at night. Although, occasionally, it’s louder than usual. 

Balance
My balance is the most affected condition and I have to be cautious not to move abruptly. I’m still able to walk freely. Walking can start normally but as I tire, I tend to stagger and drag my left leg. I also have difficulty on public transport, the sudden stop start affects my equilibrium.

Pain
The neuropathic pain is controlled with medication. Although I can manage the pain during the day, I can sometimes find it difficult at night. On occasion, when my day has been particularly active or labour intensive, the pain is more prevalent."

Narrative 5

"Hi, I have had iSS for a couple of years now, and these are my experiences so far...

As a child (60 odd years ago), I was always called Gawpy, as despite sitting in the front row of the class, I didn’t really catch what was going on, and was a bit slow on the uptake.  At home it was different as nobody expected anyone to hear, since the whole family suffered from a generational curse of deafness.  My grandpa at that time could only be conversed with by scribbling a message on the back of an envelope, so we all knew what to expect in that department.  We were told to get on with it and make the best of what we had got, which in retrospect seems a good way to go forward.  Nowadays I have a pretty peaceful time, and just watch TV with the sound off and enjoy the sub-titles (ok, with the sweet tunes of tinnitus).  Of course these days nobody scribbles on envelopes anymore, and everybody spends their entire life jotting notes to each other on their little screens, and the ancient art of oral communication seems to have got lost along the way.  I guess that if you have a newly acquired deafness after previously having had good hearing, that music might be a greater loss.  In my case it is hard to say how I feel about music.  There are obviously technological routes to compensate and to avoid the difficulties of anti-social noise levels, but it all ends up being too complicated to be worth the candle.

Recently when I was referred to a neurologist for an opinion on my ‘funny turns’ he said ‘You’re deaf, and the scan shows siderosis on the brain’.  So I said ‘Of course I‘m deaf, have been all my life, and Ok it’s got worse over the years, but what does one expect?  And the siderosis, well that’s just a left-over from the neurosurgery that I had 20 years ago to remove a benign spinal tumour’.  So what are the funny turns?  ‘Well’ he said, ’we needed to do some more tests, an EEG, and we will book you back into the clinic in a while when we have the result of that’.

He did write to the GP, and looking at my copy of the letter, the Diagnosis was ‘Superficial Cirrhosis’, so probably the consultant’s secretary had never heard of siderosis, or maybe the word hadn’t been incorporated into the spell-check yet.  Politely, the neurologist (bless his soul) wasn’t to be drawn on the nature of the funny turns, so as far as I know the GP just thinks I drink too much, who knows?

What were these funny turns?  After several attempts to describe them, my nearest written approximation reads like gobbledegook, and there is no point of showing you that, as you would just blame that on the spell-checker, or this geezer’s bumbling confusion.  Let’s say they were on a par with consciously riding on a wave of salutatory 60’s rock, being drawn in slow motion, inexorably, reluctantly, terribly, precipitantly, down the slide into a black hole.  The attacks only lasted a couple of minutes max, so what’s the big deal, everybody should be able to fit a couple of minutes into their day!  Actually the couple of minutes were followed by a couple of hours of feeling like a bus had just run over you, so given a half dozen of those, and it wasn’t such a great day….
About that time, in the misery of it all, I willingly agreed to be put on the waiting list of a rather cavalier consultant cardio-thoric surgeon, for major open heart surgery (aortic valve and aortic root replacement and Maze procedure).  This gave me the comfort of thinking that if only he would be unfortunate enough to lose me on the operating table that at least I might get some relief from my torment.  When the admission date for surgery came up, my good wife wasn’t having it, and we know who is always right, so it never happened, and by God’s grace I am still here to tell the story.
The neurologist insisted that he couldn’t give me any treatment until the EEG had to be done and reported.  As far as I know, if you pitch up at A&E with a possible heart attack, you don’t get told ’We will arrange a routine out-patient appointment for an ECG and see you in the clinic in a few months to see what the reports says’.  Maybe there isn’t such a thing as an urgent EEG, but perhaps someone could invent one?

When at last it was decreed that some ‘empirical treatment’ with Lamotrigine pills might be tried, the relief of swallowing the first pill was a tangible lifting of a dark and heavy weight off the top of my head.  As the dose was increased the funny turns gradually dwindled away, and I haven’t had one for a year now.  
    
Along the way, some other discomforts have nudged their way in.  The memory loss, the cognitive dysfunction (can’t even do simple sums now without a calculator), the loss of  sense of where I am in the world:  that’s always a boy’s thing anyway, and I used to think that you could drive me blindfolded around the back-streets of Baghdad, and I would still be able to find my way home.  At its worst a year or so ago, I got lost round the corner where I live, and if driving a couple of miles from home, I wouldn’t know where I was or have any idea of how to get to my destination.  The dementia is a sorry thing to live with, and with the deafness makes one a double burden to those who have to put up with you…

Things have looked up since, with some recovery of the worst excesses.  It makes me think that a lot of the dysfunction of the brain is secondary to a grumbling sub-threshold disturbance which never reaches the mind as a conscious ‘funny turn’.   My wife said I was deteriorating for a couple of years even before I had my first identifiable ‘funny turn’, so maybe a spot of empirical treatment wouldn’t come amiss even in those not overtly having epilepsy?  Not that anybody has been so ungracious as to burden me with the epithet of temporal lobe epilepsy.

Well, also, there is the ataxia, no really I don’t drink, the falling over backwards, and oh, I forgot to mention the memory loss.

That’s my tuppence worth of misery for what its worth, but remember: ‘this is the day that the Lord has made, we will rejoice and be glad in it’.  My thanks to all the caring people who have looked after me.  May the Lord bless you."

You can also watch the video here

What is the most bothersome symptom for you that is part of iSS?

"The most bothersome symptom of Superficial Siderosis for me has to be the hearing loss. Being a former musician it has completely rendered useless my hobby and passion of music. Communicating with others is also a big issue as I find not everyone has the patience to repeat things or make the extra effort so that I can understand what they are saying. Having total hearing loss makes it difficult to sleep alongside the tinnitus as I cannot play background music or use relaxation apps on my phone to help me sleep. Medical appointments are another issue as I feel that I do not always understand and/or absorb what is going on."

"Hearing loss is, my understanding the most common symptom and I find it the most difficult thing to accept because of how it affects your day to day."

"Balance and bladder issues."

"My balance is most bothersome."

"Really the cognitive decline is the most tiring, both in the here-and-now, and in its future omen."

What impact has iSS made on your life and day-to-day activities?

"I am near enough constantly in some sort of pain, whether it be a headache or neuropathy it has a big impact on my daily routine. Keeping in a routine is something I like to do, but I often need to have rest periods when I get very fatigued. I surrendered my driving licence based on medical advice, and can no longer pop to the shop when I need something. I am heavily dependent on my parents to help with certain things as I can no longer carry out simple tasks such as carrying a drink without spilling it. The biggest impact is when my head gets really bad and I basically have to rest and cannot do anything productive, thus in turn sets my anxiety off as I like to be productive and feel I am not getting things done, its like a vicious circle."

"I have become much more quiet – I don’t involve myself in conversations and don’t interact that much in shops. I often remove myself from those situations."

"The main impact is having to do things a lot slower, which can be quite annoying." 

"I am able to cope with most day-to-day activities but need to be cautious with moving abruptly. Tasks are slower, require concentration and have to be more deliberate."

""My memory loss has made me curtail the charity medical work that I have been doing overses since retiring in the UK. It has also put a spanner in my hobby which is micro-electronics, as I can no longer do mathematics in my head, nor am able to carry on complex problem solving without getting lost off in the mental weighing up. The memory loss is also a trial for my wife who lives with me, and who has just finished a protracted period of full-time caring of her mother, who had fairly severe dementia in the last few years before her recent death."

What is the biggest challenge you have living with iSS?

"I feel that it is such a rare condition that not much research has gone into it until recently, so there is still a lot to learn. I often find myself finding better information from the online community than that of what my doctors have told me. People with iSS sharing their personal experiences is the biggest and most helpful thing I have come across. I’ve made friends all over the world with iSS, and sharing information via social media is such a great thing. I think the combination and variety of symptoms which affect so many different things is very hard to tolerate, it’s not just hearing loss, it’s, mobility, muscle weakness, eyesight issues etc."

"Trying to maintain a positive mindset. Looking at my future knowing that things could become difficult is a very daunting and depressing idea."

"The fear of it getting worse."

"Trying to keep doing everything as normal as possible."

"Facing the future and deciding when it is time to quit."

What should the iSS-related research focus on?

"I think the biggest aspect is to remove the iron and stop further deterioration, so these are two areas I feel should strongly be pushed in research. Nerve regeneration and protection from further hemosiderin would prevent so many patients from going through the awful experience of the many symptoms. Deferiprone is such a slow acting drug in removing iron from the CNS, I feel there could be more efficient ways to administer the drug rather than oral medication. When administered orally the drug will go straight to the blood iron and iron left in the stomach from food before it crosses the blood brain barrier, so this is something that clearly needs to be heavily researched."

"Fixing the bleed (if necessary), mental health and support for the patients moving forward with the condition and of course a potentially quicker way of removing iron deposits."

"Potential future cures or ways to help progression of SS (slow the rate of SS)."

"Gathering more data."

"Well I am fascinated by how, during the protracted prelude before I had any overt symptoms, and during the intervals between the fits of the temporal lobe epilepsy, there must have been presumably some background grumbling dysrythm emanating from the areas of the brain that were affected most by the siderosis.  The fact that I immediately felt improvement in myself (though in a way that was hard to put my finger on) when I started lamotrigine therapy might also bear this out.  
I am curious as to how much the epileptic attacks perpetuate or exacerbate the brain damage.  It makes me wonder whether empirical treatment with lamotrigine might be worth a trial even in those who do not have overt epileptic attacks.  
I am no doubt a better person than I was a year ago, my place-disorientation is much improved, and my ataxia slightly improved, but the other symptoms about the same.  The improvement has been since simultaneously upping the dose of lamotrigine significantly, commencing deferiprone therapy, and being locked down.  I have had no further fits or even auras during the past year.  Is the improvement due to one or other or both drugs?  Might it be that the possible inflammatory process in the brain has burnt itself out?"