A lot of Movement in Little Time

Back in March 2020 we shared Rhys’ story about his ‘Long Road to Diagnosis‘. Now we get the chance to see what life is like for Rhys almost two years on.

Where we left off

In my last blog for Rare Disease UK I talked about the difficulty of getting a diagnosis for superficial siderosis. Current estimates suggest it affects around one in three million people, but personally I think it is more common than we know, and just under-diagnosed. The reason being is that medical advances in MRI technology have enabled doctors to see hemosiderin deposits on the surface of the brain, spine, and spinal cord. Hemosiderin is a compound which is formed when toxic iron molecules enter the spinal fluid via a chronic or intermittent bleed. The body releases a protein which binds to the iron and forms the hemosiderin; the iron however, is toxic to the nerves and surrounding tissues and can affect various functions, depending on where it settles in the central nervous system.

The condition will worsen over time, and there is no cure.

A Glimmer of Hope

I’ve had some good news in that the bleed which enabled the toxic iron to enter my spinal fluid appears to have been stopped. This is likely to be the result of the brain surgery I had to close the cavity at the back of my head, which was caused by a brain tumour removal when I was eight years old. I’ve still got the hemosiderin deposits in my central nervous system. Therefore, the damage will continue, but it’s reassuring to know the deposits will no longer increase due to the bleeding being stopped. I continue to take the iron chelation drug, which will hopefully be more effective in removing the iron now that that there is no fresh blood leaking into my spinal fluid.

Rhy stood at the gym with a superficial Siderosis Research Alliance t-shirt on

Keeping up the Fight

The pandemic has been quite a setback for everyone in one way or another. I was quite lucky in that I found a specialist neuro-physiotherapist centre which helped me so much with my mobility issues. It’s so hard to keep up the physical rehab exercises on days when the pain is extremely bad, but it has boosted both my physical and mental wellbeing. I’m really trying to make things easier on myself, but still struggle every day now that I’m totally deaf. These days you’d think most places would be able to accommodate deaf people, but I still find myself having to rely on others (particularly my mum) to make a phone call. It really was a huge leap going from a hearing, abled musician to being totally deaf in such a short space of time.

Raising Awareness

When I was initially diagnosed in 2016, my neurologist told me that I was the first person in Wales he had come across with superficial siderosis. At an appointment this year, he told me the awareness raising I have been involved in was ‘brilliant’. He went on to say that he now has a few other patients with superficial siderosis, purely because I had asked him if I could add his contact details to the LivingWithSS website. This information website really gave me such an insight into my condition, and now I am in frequent contact with Rori, the lady in Texas who started it.

I really do owe a lot to that website as it not only helped to educate me, but my neurologist as well.

On to Bigger Things

This year I’ve been liaising with the Superficial Siderosis Research Alliance (SSRA), a volunteer run charity formed in the U.S when Kyle Dempsey met Rori Daniel – they both have relatives fighting superficial siderosis. I decided to help raise awareness in the form of writing articles and organising global meetings via video call. It’s hard to keep to a firm schedule with the relentless symptoms of the superficial siderosis, but I really hope my experiences can help others who are going through this awful ordeal, and one day we can find a cure. Alongside Rori who is the Vice President of the charity, I helped produce a UK information leaflet about superficial siderosis which has now been approved by experts in London. My hope is to find as many undiagnosed patients as possible, and to make it an easier journey for both them and all the friends that I’ve made around the world, who are currently battling superficial siderosis.

My name is Rhys Holmes and I’m 31 years old. In my spare time I enjoy watching my favourite football team, Liverpool FC and advocating for superficial siderosis. You can find me at @rhysholmes.

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