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Patient Experience: Living with two rare diseases

Published on 18/03/19 at 12:03pm

Dan Jeffries was diagnosed with the ultra-rare condition Wyburn-Mason syndrome at a young age, leaving him blind in one eye. But this occurrence, at a prevalence of one in 70 million, was compounded later in life when he found he was living with not one, but two rare conditions, complicating treatment and leading to some very close calls.

How did you originally come to be diagnosed with Wyburn-Mason syndrome?

I was taken to an optician’s as a matter of precaution at the age of four, just to get my eyes checked out. The optician looked at my right eye, and then my left eye; as he looked at my left eye he saw this huge mass of blood vessels around the optic nerve, and obviously freaked out a bit! I was referred to Bristol Eye Hospital, who diagnosed me with Wyburn-Mason syndrome, which is more technically known as an arteriovenous malformation, or retinoencephalofacial angiomatosis – that’s the really long name.

There was a degree of vision in that eye, although I don’t remember it, and I was diagnosed as being short-sighted in my right eye as well. Over the next four or five years I underwent lots of tests and check-ups; they asked me to wear a pair of sunglasses with a patch over the right eye to try and encourage the left eye to work, but that didn’t happen. So I eventually got a proper pair of prescription glasses when I was about seven, and at the age of nine or ten I was told that I was fully blind in my left eye. Of course, I’d never really experienced sight with it, so I didn’t really know much difference.

Did the condition progress as you got older? Did you experience any notably impactful symptoms beyond the loss of sight?

In my teens my eyesight settled down; I was eventually diagnosed as being about -7 in my right eye, and my left eye just stayed dormant. One thing I did used to suffer from a lot was nosebleeds; they would be really bad, and could last up to four hours at a time. We were never sure if that was directly connected, but it would seem odd to me for them not to be when you’ve got enlarged blood vessels around your eye.

After university I moved back to Bristol, and after a few years bumming around and trying to get a job, I finally got one with the BBC, and it was there that I had my first experience of something weird going on. I was just standing around and the vision in my right eye started to go pixelated and fuzzy, and I had this weird pinpoint in the centre of my vision and everything around it was blurry. It really freaked me out and I didn’t know what was going on, and of course, when you’re already blind in your left eye the last thing you want is to have problems with your other eye. It lasted about 40 minutes and then it disappeared and I had a bit of a headache. This happened a couple of times, but I’ll come back to that a bit later in my story.

When did symptoms of your second condition begin to manifest?

In around 2004 or 2005 I found that I couldn’t bite down on my back teeth anymore; I couldn’t eat properly, especially on the right side of my mouth. I went to my dentist, and they observed that I had two large molars in the back right-hand side of my mouth that needed to be removed, and also that my jaw had changed shape and moved forward, but no one had picked up on why this might be.

At the same time I was still getting nosebleeds after not having them for quite a few years. I had a septoplasty to straighten the inside of my nose; it didn’t seem to stop it a great deal. In general, I felt pretty down; I had no sex drive at all, I didn’t want to go out, I didn’t want to pursue my music career; I was far more interested in everyone else’s lives and successes and I’d lost my own.

I also had a ring on my finger that an ex-girlfriend had given me when I was about 19 or 20, and I noticed in about 2006 that I could not get it off. I assumed that I’d grown fat, and I had to go and get it cut off in a jeweller’s shop.

So how did you eventually reach a diagnosis for your second condition?

In 2007, I received a letter from Bristol Eye Hospital, asking me to go and be a test patient for their final year students so they could try and diagnose my Wyburn-Mason syndrome; up to that point I’d been told that the condition affected about one in three million people. I went in, and the consultant called in the students and said: ‘before you look into his eyes, here is the patient; what do you see?’ I’ll never forget those words. The first student took a step back and said: ‘well, he’s got very large hands, a protruding jaw, and an exposed forehead’. The doctor said: ‘why do you think that might be?’ The student replied: ‘well, it could be due to an excessive release of growth hormones due to a pituitary adenoma.’ 

I didn’t know what that meant at all. I thought: ‘you’ve got it wrong! Wyburn-Mason syndrome – that’s what you’re looking for!’ And then the second person said it, and the third person said it, and the fourth. Five or six of these students said the same thing; only one of these patients diagnosed my Wyburn-Mason syndrome.

In the end, I spoke to the consultant that was running the session and told him I had no idea what any of them were talking about. He said: ‘you should go and see a doctor, you might have something called acromegaly.’ I ran out of the hospital, typed ‘acromegaly’ into Google, read the symptoms, and it completely made sense.

I went through the symptoms: large hands and feet – my feet had grown two sizes, and I had that ring cut off my finger; change in facial appearance, which had definitely been noticeable; change in voice, which had happened; dental problems – I had those two teeth removed; vision problems – I had those retinal migraines a few years before; loss of libido – all of these things made sense.

It was a huge relief because it explained why I had been feeling so terrible for the last four or five years.

With both diagnoses and a lot of questions answered, how was life living with two rare conditions? Did you find that the two have interacted in any way to produce unforeseen complications?

I went to see the doctor because I’d read online that I needed a blood and growth hormone test. The doctor himself had to look it up on Google to figure out what he had to do because they’re just not used to doing it. The test results came back – growth hormone levels were off the charts. I then met the endocrinology team in Bristol, and it was apparent that it was going to be complicated because surgery generally involves going in through the nose and removing the tumour from the pituitary gland, which is at the base of the brain. Of course, because of my Wyburn-Mason syndrome, there was a mass of tangled blood vessels in the way, so they had to work out how to approach it. At the same time, I had an angiogram to look at the extent of my vascular activity; as they wheeled me out of the angiogram, my chest got really tight and I had a sharp pain around my heart. I was later told that I had a leaking heart valve – my heart valve had enlarged, and this was undoubtedly down to the acromegaly, because the growth hormones produced can cause your internal organs to grow. That’s why early diagnosis is so important, because if you leave it 10, 15 or 20 years, your limbs can displace, your internal organs can grow and it can cause a lot of problems.

In November 2007 I had the surgery, which was a success. But I had this white fluid coming from my nose – a spinal fluid leak. They needed to monitor it, but it didn’t look too bad, so they let me go home, but told me that if it got worse, I must come back. I went home and it kept dripping. I started to get these really pounding headaches; I went to bed one afternoon and woke up about 10pm and my head was on fire. I went into the lounge where my sister was and the lights were horribly bright, and she could see my head pulsating. We went back to the hospital, and I really don’t remember much for about two days after that. When I woke up two days later, I had a doctor feeling around the base of my spine. He said: ‘this is going to hurt’ and they put a lumbar drain in me, and then proceeded to tell me that I had caught meningitis. That spinal fluid had become infected.

For the next two weeks I stayed in hospital trying to get rid of this spinal fluid leak. It didn’t stop, so two weeks later, when I was feeling much better, I had to go back in for surgery again. The took a skin graft off of my leg and went back up my nose – I think there was a very small hole which they hadn’t fixed properly, and they sealed it up.

A couple of days later I went home, and I cannot tell you, within days I started to transform. My hands started to go really shrivelled and shrink back to a normal size; my feet went down two sizes; every day I’d wake up and my bed sheets were soaked with excess fluid that had built up; my face started to change shape and return to normal, and I started to get my lease of life back again. Within two to three months I was writing music again, I changed jobs – it was hugely transformational.

So everything ended well, despite that close call?

It doesn’t quite end there; about six months later I had what you could call cosmetic surgery to correct my blind eye. For years it had drifted to looking to the left, but I was really uncomfortable with it; I was a teacher and two students would answer a question at the same time because they thought I was looking at both of them! So that correction to pull the eye back in and straighten it up was a huge thing for me, but they were only prepared to do that once that acromegaly had been dealt with.

I was then referred for maxillofacial surgery to realign my jaw. For two years I wore braces to correct my teeth and get everything ready for surgery where they would break the lower jaw and push it back, so I would have a better smile and profile. But on the day of surgery, they called me in and told me that they weren’t going to operate because of the proximity of my arteriovenous malformation to the jawbone, and they were worried that there could be a bleed or damage to the vessels, and that would be catastrophic.

That pissed me off; I had really nice, straight teeth, but wearing braces for two years is no fun, especially when you’ve got the expectation of something being fixed that you aesthetically don’t like. I had to learn to live with that.

So how are things looking now?

The final steps were the management of my leaking heart valve. It was getting worse: they said my atrial valve had dilated to 5cm, which is quite big – it’s normally about 2.5. For a year or so I underwent stress and exercise tests, and it was quite a strain on the family because heart surgery sounds quite drastic; I had to remind them that I’d already undergone brain surgery seven or eight years earlier and that was far more dangerous! But ultimately I was told that they didn’t feel it was serious enough to warrant the surgery yet, although I get the feeling that that will come at some point. It’s only going to have more pressure put on it.

You’ve taken your experiences and turned them into a number of positive pursuits. Can you tell us a bit about them?

In 2015 I published my memoir - ‘Me, Myself & Eye - and produced an app that goes with the book that has all of my medical records, pictures, X-rays and videos. Since then, it’s kind of taken off, in the sense that I’m now an advocate for The Pituitary Foundation and a trustee of Medics 4 Rare Diseases; I’ve spoken at numerous events on acromegaly, and I’m going to New Orleans in March for another acromegaly conference. I get to talk to organisations like Pfizer and be part of awareness campaigns for pharma firms; for Novartis, I was involved in filming for an acromegaly awareness campaign for nurses, so that they know how to manage treatment and patient expectations, things like that. Telling my story has propelled me into the rare disease world, really.   

What advice would you give for others who find themselves in similar situations to yourself?

I always think that diagnosis of a rare condition can be quite scary; I think it’s important to do your research and don’t be afraid to ask questions. Consult with your family and try and get their support as much as possible. Also, I think a huge, huge benefit nowadays is social media; the amount of people of who come onto the acromegaly group on Facebook that I’m a part of in the UK that say: ‘I’ve just been diagnosed, I don’t understand it, and I’m scared.’ People reply to them and say: ‘We were once diagnosed and we’re still here – here is what to expect’. I think that can be invaluable and shouldn’t be underestimated.

I spoke to my endocrinologist and said I’d heard [Wyburn-Mason syndrome affects] one in three million, and he looked it up and found that there’s only been 30 or 40 cases in the last 50 years worldwide. I worked this out as a sum, and it’s actually one in 70 million – that’s how rare it is. But after I wrote my book, I had a lady contact me from the States to say she’d never met or heard of anyone else with Wyburn-Mason syndrome, and it was a huge moment for me. She came to London and we met up and talked about our experiences, and after that day I set up a Facebook group for people specifically with Wyburn-Mason syndrome, and we now have about 30 members on there. There’s a lot in the States, a couple in Australia and New Zealand, a couple in Germany and Europe; I think I’m the only one in the UK. It’s opened it up – a rare disease is not so rare when you know other people have got it.

Find out more at: https://memyselfandeye.co.uk/ 

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