I’m Sarah Louise Cleary, 37. Born in Switzerland, raised in Norway, and also spent 12 years in Ireland, where I got my Master’s Degree from University College, Dublin. Actress, wannabe writer, bookworm, animal lover.
“NF2. Neurofibromatosis, type 2.”
“Ah. Could you spell that?”
This was not a conversation I had with a person on the street. This was in the A&E department of my local hospital last summer, with the on-call doctor. I had to get picked up in an ambulance as I couldn’t move with pain, and I still didn’t know if it was NF2-related.
I’m used to confused doctors, though. It’s such a rare illness, I have yet to meet anyone else who has it – face to face, I mean. The numbers differ, but around 1 in 35,000 people have it, according to The Neuro Foundation. The Neuro Foundation is the sole advocate for raising the profile of neurofibromatosis in the UK.
I was diagnosed at 23 years old, but in truth, the diagnosis meant nothing to me at the time. I had never heard of it, no one I knew had heard of it, and I was given very little information by my doctors. They told me not to Google anything, which might seem like sound advice, but in retrospect, I wish I’d found out more, instead of staying in the dark about my own illness.
NF2 causes tumours to grow on nerve endings throughout the body, most notably, and dangerously, on the brain and spine. I had noticed a gradual hearing loss accompanied by tinnitus in my right ear and was only sent for an MRI to “rule things out” but was quickly recalled by the hospital when they discovered a 4cm tumour, an acoustic neuroma, attached to my hearing and facial nerve. This was partly removed, resulting in facial palsy and total hearing loss in my right ear, but they later discovered a second, 2cm tumour on the left-hand side, and a 4cm tumour at the base of my spine, along with 37 small tumours all along the spine.
It was only then that the severity of my condition actually hit me. I was not going to get well from this. It would only get worse. The life that I had planned for myself was not going to happen, and there wasn’t a thing I could do about it.
The physical aspect of a rare condition is horrific enough. A chronic illness is a full-time job. There are no days off, and there is no payment. What makes it so much harder, though, is having an illness that most people have never heard of. If you tell someone that you’re suffering from something they’re familiar with, it makes the conversation a lot easier.
When you have a rare disease, a feeling of loneliness is never far off. I can never see my GP to talk about how I’m feeling or discuss a possible new symptom because they know nothing about my illness. Very few doctors do- which The Neuro Foundation and Professor Gareth Evans (Medical Advisor for The Neuro Foundation and National Lead for the National NF2 Service) are working to change. Since 2010, they have run a nationally funded NF2 national service to ensure sufferers of this condition like myself receive the highest standard of care.
On Christmas Day, I had a bad episode and had a really hard time getting help – it was frustrating, exasperating, and isolating – feelings I’m sure are quite prevalent in anyone with a chronic illness, rare or not. So, obviously, anything that raises awareness is most welcome.
For anyone suffering from a rare disease, it’s always a positive if people have heard of it, no matter how superficially, so getting the word out is important. Rare Disease Day does just that. It extends an opportunity to share stories and experiences and hopefully gets people asking questions around the world. May you have an inspiring one, wherever you are.
The Neuro Foundation’s vision is to improve the lives of those affected by neurofibromatosis. You can find out more HERE.
by Sarah Louise Cleary about living with neurofibromatosis