Wyburn-Mason syndrome: A condition so rare you probably haven’t heard of it
Friday, 15 September 2017
Dan Jeffries has written a memoir about living with Wyburn-Mason syndrome. Here he answers 10 questions about what it's like to have his extremely rare medical condition.
1. What is Wyburn-Mason syndrome?
Wyburn-Mason syndrome is a non-hereditary condition that affects the vascular system, causing arteriovenous malformation (AVM) of the eye and brain. An AVM is a tangle of abnormal and poorly formed blood vessels. In my case, it involves the optic disc, retina and the midbrain, which is important to the movements of the eye and visual processing.
2. When did you first develop Wyburn-Mason syndrome and how long did it take to get the diagnosis?
My dad is partially sighted and when I was four, he took me to an optician just as a matter of precaution. The optician looked into my eyes and saw this huge mass of enlarged vessels and, not knowing what it was, referred me to Bristol Eye Hospital. And that’s where the journey started.
3. How much can you see?
I’m completely blind in my left eye. I can’t see any light or shade, nothing. My right eye is short sighted (around -7) and I have poor peripheral vision due to also developing acromegaly (a benign tumour in the pituitary gland) in my twenties. It’s likely that it rested on the optic nerve and once it was removed, my peripheral vision was damaged.
4. Do you know how many people have the condition in the world?
It’s thought there have been fewer than 30 reported cases worldwide in the last 50 years. If you round that figure up for ease, to 100 cases; it equates to about one in 70 million. It’s strangely empowering to be that rare!
5. Have you ever met anyone else with Wyburn-Mason syndrome before?
“Unbelievably, yes! After I published my memoir (Me, Myself & Eye), a lady from the US contacted me to say that she had found me online after doing a search for Wyburn-Mason syndrome. She happened to be on a course in London and we arranged to meet.
“Knowing how rare this encounter would be, and to celebrate the occasion, we recorded a video.”
6. Was there much information about Wyburn-Mason syndrome when you were growing up?
“We had very little access to any information about my condition, save for what we were told by Bristol Eye Hospital. We knew how rare this was, so we didn’t expect to find much and we just carried on with life as usual.
“Thankfully, the internet and social media have widely opened up knowledge streams for people with rare conditions, by providing information and a support network. I have now setup a Wyburn-Mason Support Group on Facebook; we have five members.”
7. Are there any treatments for Wyburn-Mason syndrome?
“As far as I know, there are no treatments, not for me anyway. It would be far too dangerous to try and operate on vessels so intertwined with the brain. I’ve learned to live with the fact that it will never be fixed and that I will never see out of my left eye.”
8. Are there any unique talents or skills you have because of the condition?
“I seem to be particularly good at pool and snooker. I think having "tunnel vision" helps when looking down the cue. I’m also lucky to be very creative too (I write music, DJ and have written a book), though whether this is down to my condition or not, is hard to know.”
9. What's the strangest question you've been asked about Wyburn-Mason syndrome?
“I can’t think of any particularly strange questions. However, whenever I go to Bristol Eye Hospital, there is almost always a queue of students and specialists wanting to see my condition as they know it is highly unlikely that they will ever have the opportunity to see it again. In fact, my acromegaly was diagnosed by a group of fourth-year students doing their final year exams.”
10. Does Wyburn-Mason syndrome stop you from driving or having any particular hobbies?
“After my acromegaly, I lost more peripheral vision and the doctors told me I would never be able to drive. It saves me lots of money, but it’s a shame as I would love to have that freedom. I even had a few lessons when I was 18, but reversing round corners was nigh on impossible. My instructor would constantly nudge the steering wheel to avoid me hitting parked cars. One day I’m going to pay for a driving experience round a race track.
"The only other obstacle is based on not being aware of what’s around me, so sports such as football and rugby are a no-no. I think I’ll stick with snooker.”
RNIB has a directory of charities and support groups who are specialists in helping people who have rare eye conditions.