This week’s blog was written by Rhys Holmes. In 2016, Rhys was diagnosed with Infratentorial Superficial Siderosis.
In this blog he shares the importance of raising awareness of his rare condition.
My name is Rhys, and in this piece (this isn’t going to be a rap I promise) I’m going to talk about how it is crucial to raise awareness of a rare disease, which I will demonstrate through my experience of being diagnosed with Infratentorial Superficial Siderosis.
What is Superficial Siderosis?
Superficial Siderosis is a rare neurological condition caused by iron toxicity from chronic bleeding into the cerebrospinal fluid (CSF, the fluid that the brain and spine bathe in).
Most causes of Superficial Siderosis are attributed to previous brain or spine trauma and surgery, but on some occasions a root cause is never found.
My story (in short)
After struggling to find out why my right sided hearing had dropped to nothing, my balance was declining, and I was now seeing double (amongst other symptoms); the third neurologist I saw decided to do a lumbar puncture, which showed blood in my CSF.
Three repeat lumbar punctures later and I found myself in admission on the neurology ward waiting for an MRI scan. It seemed like the longest wait of my life; hoping there was a way to stop whatever was going on and reverse the symptoms I already had.
Finally, after two weeks of waiting I had the MRI scan. Straight afterwards my neurologist came to my bedside and said he could see iron deposits on my brain.
‘I don’t believe it’
At the outpatients’ clinic a week later I was told I had Superficial Siderosis, and my neurologist said he didn’t know of anyone else in Wales that had it. This is when my inner Victor Meldrew kicked in.
Yes, I was very relieved to get a diagnosis, but not for one minute did I think I was the only one in Wales with the condition.
A few years in…
After getting an understanding of Superficial Siderosis and the causes of it, my point was proven right, when I connected with a lady from Swansea whose husband also had the condition.
However, it didn’t stop there. I asked my neurologist if I could add his details to the Living With Superficial Siderosis physician directory, and a few months on, he told me he had a few more patients ‘because of me’.
It felt empowering in a way, as it’s good to help people get diagnosed after the awful trouble I had trying to find out what was going on.
Estimates believed it to be a 1 in 3 million condition when I was diagnosed in 2016, now in Wales alone it’s already less than that based on the population of Wales being just over 3 million.
Connecting the dots
It’s believed my Superficial Siderosis was caused by a brain tumour removal I underwent at 8 years old. I’ve written blogs for both Brain Tumour Research and The Brain Tumour Charity because although a rare occurrence, it’s still possible to develop Superficial Siderosis from a brain tumour resection.
The operation I had to remove the tumour is a craniectomy, where the bone is removed and not replaced; this is to relieve pressure on the brain. The procedure is still carried out today, and always has me wondering how many more patients who’ve had craniectomies at the back of their head will go on to develop Superficial Siderosis.
Sky’s the limit
There’s so many ways of raising awareness, and having the opportunity to speak at the Beacon Repurposing Drugs Conference was another great opportunity.
It fit the bill to a T because the only medication used to treat my condition is an off-label drug called Deferiprone.
With awareness, comes more diagnosis, and with more diagnosis shows there’s ever more need for funding from governments.