Friday, 29 July 2016

Introducing Theodor Karl Gustav von Leber

Well needless to say I had absolutely no idea what it meant to have LHON. Or even less what it meant to have mutation 11778. I still had in the back of my head that at some stage they'd fix everything.

On my last trip to the Eye and Ear my mother was with me. We were there to meet with one of these experts to find out exactly with LHON is, what it does, long term prognosis, that kinda thing. 'Blah Blah Blah... Blah Blah Blah,' the doctor explained in his doctor voice. Do they get issued with this voice in med school?
'What the **** is this guy on about,' I thought to myself, 'Is he even speaking English'. I could tell my mam wasn't fairing any better either. 'Yes of course I know what  mitochondrion are,' I said, 'sure doesn't everyone'.

The doctor went on in his doctor voice explaining about the discoverer of Leber's Hereditary Optic Neuropathy (LHON), one Theodor Karl Gustav von Leber. 'That's right,' I said, ' Sure didn't Gay Byrne interview him last year on the Late Late Show'. Leber himself died in 1917.

The doctor went on: 'The nature of the causative mutation was first identified in 1988 by Wallace et al. who discovered the guanine (G) to adenosine (A) mutation at nucleotide position 11778 in nine families. This mutation converts a highly conserved arginine to histidine at codon 340 in the NADH dehydrogenase subunit 4 of complex I of the mitochondrial respiratory chain. The other two mutations known to cause this condition were identified in 1991 (G to A point mutation at nucleotide position 3460) and 1992 (thymidine (T) to cytosine (C) mutation at nucleotide 14484)'. (I pulled this off the net by the way. Sure all the experts did was read it from an old book anyway).

'Yes of course it's so obvious,' I said, I really had no idea what the hell this guy was on about. Only a few weeks ago I'd been struggling with Bernoulli's theorem in gas turbine class, but this was on a whole different level. 'Is there not like a layman's guide to going blind,' I thought. They really have no idea how to relate to patients.

There was light at the end of the tunnel however. All you had to do was see the light. In very rare cases young males do get their sight back. So I was rare to get this LHON but if I was even rarer again I might get my sight back. 'Wait a minute,' I questioned, 'I thought you said the cells in the optic nerve were dead, so how come in rare cases the sight comes back'. See I was listening after all.
'Well um um eh. We don't really know,' he said. 'Ok so now what?' I asked.
'Well at this rate of loss your sight could be completely gone within a month,' I was told. 'Are you sure I can't take a pill or something - for Gods sake.?' Nope that was it.

After seven weeks with people poking around in my eyeballs that was it? Really! Not even as much as a paracetamol in that whole length of time..
Nothing they could do and I would  have no sight within the next month. Needless to say I was numb all over. You can only imagine what my mother was feeling. You need to see a neurologist as soon as possible they said - hopefully we will be able to get you an appointment in about 6 weeks.  Great - I thought, I'm going blind and they want me to wait 6 weeks to see someone who might be able to help - bloody marvelous.

As apprentices we had to live in, so my mam had to drop me back to Baldonnel that evening. Probably not the place where she wanted to be bringing me after getting the news we had just received. Back in the apprentice hostel the lads were summoned (Mark Elliott and Darren Mahony from what I can remember. The usual culprits in all shenanigans at that time). Out came the hidden bottle of Jack Daniels. I filled them in on what the doctor had told us. After several attempts to recite what the doctor had explained I went for the layman's version: 'optic nerves f**ked, no signal to the brain, sight bad, sight gone in a month'. Then again Jack wasn't helping matters.

'So,' the three of us pondered at the end of the bottle, 'what now'.

The one and only Theodor Karl Gustav von Leber (29 February 1840 – 17 April 1917). For your next table quiz Leber was the first to describe what is now known as Leber's congenital amaurosis in 1869 and Leber's hereditary optic neuropathy in 1871. I'm sure he was a great guy but I still would have preferred if he'd sent me the lotto numbers.

Wednesday, 27 July 2016

Blurry Vision

For a very long time now both my mother and my sister have been encouraging me to start writing a blog. ‘Tell people your story,’ they said. I never felt I’d anything interesting to write. Well my mother pointed out something interesting today. She said ‘it’s been twenty years since your eyesight went’. I never really thought of myself as getting old, but twenty years is a long time. How much has changed.

Back in 1996, I was 18 and in my second year as an apprentice with the Irish Air Corps. I had joined up when I was 16 and with typical teenage brashness I thought I was the shit. And sure why not. All I’d ever wanted to do was serve. After a youth watching Rambo, Top Gun and Hot Shots on an endless loop, I had my whole career planned out. Alas it was not to be. Over a period of a few weeks around March/April 1996 I started messing up a lot; maps upside down, knocking over pints, not being able to read my writing, not saluting officers, that sort of thing. I was also extremely fatigued.

I still remember the first trip to the medical aid post. ‘Put your hand over your right eye and read the chart,’ said Commandant Collins. Not a problem: Z W T 1 3 7 q e y. Easy. ‘Now cover up your left eye and read the chart’. ‘OK’, I said, ‘Can you put the chart back up please’. After that the fun and games started. After several trips to the medical aid post I found myself on rotation in and out of the Eye and Ear. I had every type of blood and eye test done. Along with an MRI I was being tested initially for a brain tumor and diabetes and then a whole rake of other conditions I'd never heard of at the time. They hadn’t a clue what was wrong. All this time the sight in my right eye was getting worse and the sight in my left eye decided to start packing it in. It’s hard to describe. Blurry cloudy vision. Loss of sharpness with your central vision effected the most. If you look at someone straight on from about a meter away, you can make out their hands and legs but they’ve no head.  Beyond a meter people become more like blurry colours moving around.

Although a total pain in the ass and not exactly what I wanted to be doing with my life, these trips to the Eye and Ear were entertaining nonetheless. As nobody knew what was wrong every doctor and med student wanted to poke around my eyeballs. My friends from the Air Corps who would accompany me on these trips would get rather jealous as a young pretty female med student would bend over and look into my eyes with some strange instrument. Then again they had a different view.

On another occasion though I was on my own. So what happens is you’re put in a big waiting room and given a raffle ticket. ‘Take a seat your number will be called’. From what I remember I was the youngest person there. Everyone else seemed to me at that time to be ancient. You have to really picture this scenario. It’s a room full of people with bad sight or bad hearing or because of their age, both.  A voice bellows from the top of the room ‘No. 17’ (it could have been any number I can’t remember). ‘Hmm’ I think to myself, ‘it might have been handy if I’d asked what number my ticket was’. There’s a pause, a bit of shuffling and mumbling. Half the people can’t see their tickets and the other half are asking ‘did someone say something’. ‘No. 17’ the voice from the top of the room bellows again. I get a nudge on the arm from an old lady beside me: ‘Excuse me son what number ticket do I have’. Absolutely comical.

On one of these trips to the Eye and Ear to get poked at again by so called experts who’d no idea what was wrong I was sitting in the waiting room when I heard a nurse talking to an older man. I was positive I recognised his voice. Getting up I went to the other end of the corridor. ‘Uncle Danny,’ I said, ‘Is that you’. (Uncle Danny was my mam’s uncle). ‘It is’, he said, ‘who’s that’. ‘It’s Wes,’ I said, ‘there’s something wrong with my sight. What are you here for?’ ‘My sights going too’, he said with a worried sigh. Not being able to see each other clearly we both could tell we were looking at each other and thinking ‘what the …’ The nurse was thinking the same. She went off to get the doctor.

With the extended family brought in we discover we have a condition called Leber hereditary optic neuropathy (LHON). At the time there was no test in Ireland because it is a genetic condition. A cousin of my grandmother had been clinically diagnosed with mutation 11778. After we told the doctor about LHON I still remember the doctor taking down a book and blowing off the dust. (Or at least that’s my version of the account). ‘Yes that’s what you have. Some of the cells in the optic nerve are dead and the signal isn’t going to the brain. It’s a very rare condition’. Personally I’d have preferred to have won the lotto. 

The only image I could find of me back in the day. This was taken in December 1994, by my room mate Paddy Byrne.