The Journey to Diagnosis Day

My parents got married on 31st July 1971, 43 years later the day became special for another reason. It was the day I was officially diagnosed with Leber’s Hereditary Optic Neuropathy (LHON). A genetic disorder that can cause the optic nerve to atrophy, resulting in vision loss.

I first noticed a problem with my vision in April, after a diabetic retinopathy. I described it as what you see after looking into a bright light. Not constantly but enough to notice a difference. I was seeing my optician regarding my contact lens prescription so would talk about it then. They did some tests and gave me a letter to give to my GP. Initially I was hesitant about going to my GP as we had been talking about vision loss due to diabetes but I went and was referred to a local hospital’s emergency eye clinic.

This was the start of the waiting game. Early May I visited the clinic but there were no doctors there so the nurse did some tests and said I’d receive an appointment in the post. A week later nothing had arrived so I called and they suggested I go back, so I did. A nurse did the same tests, a doctor looked at the notes but the nurse came back and told me there was nothing serious, I just had to keep my appointment when I got it. The letter arrived and I really hoped there was nothing serious as the appointment was scheduled for the middle of June!

The weeks went by with my vision getting progressively worse. Reading was becoming difficult, with work colleagues having to read some things for me and show me where to sign in. Watching the football World Cup was hard and not because England didn’t do well, that was expected. I couldn’t see the ball too well and the players were just different colours running around. The penalty box melee at corners was just impossible to distinguish.

The day of the appointment came and I spent over two hours at the hospital. They did a variety of tests, I waited for the tests and I spoke to a consultant. Apparently I was baffling them as the eyeballs were healthy. While talking to the consultant, he asked if any eye problems ran in the family. I could’t recall any but while waiting for the field of vision test I remembered that my cousin had lost his sight, aged 18, (about 12 years ago) but I couldn’t remember what caused it so I got my dad to do some investigation. Well he always wanted to be in the police force but was too short. The result of his findings was LHON, so I informed the consultant. My cousin was on my mothers side and our nan also had eye problems but they seemed to dismiss the information. They were still baffled so wanted me to come back for more tests and an MRI, for which I would have to wait for another appointment.

In the meantime my dad and I researched LHON on the internet and spoke to my cousin’s family but not my cousin. All of the research was pointing to LHON as the cause of my vision loss but I didn’t want to accept it until it was confirmed, officially, by a doctor and I felt talking to my cousin was accepting it. I feel bad about this but I didn’t want LHON, I guess no one wants it but I still had hope until it was confirmed.

I received two letters with appointment dates, one for more tests and one for a follow up but no MRI. These were for the beginning of July. While waiting I tried to chase up a date for the MRI, as I figured there was no point having the follow up appointment if I hadn’t had an MRI, but was unsuccessful. I went to the hospital again for the tests and they must have took pity on me as they didn’t do one they planned to, as they thought it wouldn’t help them. The consultant asked about my MRI and was shocked to hear I hadn’t received an appointment yet. They got straight on the phone to the NRI department and said that I needed a scan immediately. I was booked in for the next day. Its amazing what can be done when the request comes from the right people! The consultant was great saying they would chase up the results in time for the follow up appointment in a few days. My faith in the system had gone up a couple of notches after today.

My dad came with me to the MRI scan, not just as a chauffeur but also as a scribe to fill in the forms. Considering the difficulty I had getting an appointment I was amazed at the lack of people there. I expected lots of people waiting for scans like a factory conveyor belt but it was much more civilised. The scan itself went OK. It was a little noisy but the music in the headphones provided helped to drown that out. It went incredibly quickly. I only thought I was in there 20 minutes but my dad said it was nearer double that. He is not the most patient of people though. Back to waiting but only a weekend this time.

At the follow up appointment the consultant looked at my eyes again, did more of the same tests then we sat down to discuss things. The MRI was clear, my vision had deteriorated but he still didn’t think it was LHON. He had not seen a case in a 41 year old and the field of vision patterns were not consistent. They had to refer me to a specialist at King’s College Hospital. I still had hope and still refused to accept it. From my research I knew there had been cases from 3-70 but the consultant didn’t think it was LHON so I was clutching onto that straw.

My appointment came for the end of the month. Advice came from all directions with a recurring theme – Moorfields Eye Hospital. Everyone, including some of you reading this, was saying it was the place to go. I guess the clue is in the name but I had been so far down this path I really didn’t want to start the process again. I did speak to a consultant about this and they assured me that I wouldn’t get to where I was any quicker, which is what I thought. Anyway the specialists at King’s College have the same qualifications as those at Moorfields.


3 thoughts on “The Journey to Diagnosis Day

  1. Shelly says:

    As one of the individuals that helped start the LHON PLUS fb site, I couldn’t believe your blog! You’re not alone, I’m not alone. You see, I’ve had Type 1 Diabetes since age 4 (50 Yrs) and it took 12 years for me to be diagnosed with LHON! I burst into tears reading your blog.


  2. Thanks for your comment. I hope some parts are humorous and make you laugh too.

    12 years to diagnose!! Make my 4 months seem like nothing. I am diabetic too (type2) and there is something that scares me about having the 2 conditions. I’ve already lost central vision due to LHON and diabetes can cause blindness starting from the periphery. Does that mean total blindness from the 2 conditions combined is a distinct possibility?

    I”m coping pretty well at the moment. That will hop.efully get better once I am assessed by social services and a low vision clinic to see what aids I need. But that is another waiting game.


  3. Peter Cordwell says:

    Tears and laughter inevitably, eh, Steve? As someone who’s got to know you in recent months I admire your stoic approach to a terrible situation. Not heard a word of complaint from you, as there isn’t in your excellent blog. Ironies galore as we are working a project together, too! Proud of you, mate.


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