Now diagnosed with two ultra-rare health conditions and freaking out

[lidlbitupset]

Around 2022 I had some kind of episode, fainted in the street and eventually got a diagnosis of left bundle branch block from a private consultant. No doubt about it, very clear, every single heartbeat has this electrical short-circuit.

LBBB is incredibly common among people with heart conditions but my doctor assured me it never happens in healthy 50ish women who go to the gym three times a week. She said she was going to find out what had caused it and sent me for a cardiac MRI and an implant monitor. She now says she has drawn a complete blank and I probably had it from birth. Anyway, Im healthy so all good.

I went for my eye test last week as I felt something was wrong with my right eye. Turns out I have Terrien's disease which I have just googled and it's so incredibly rare there are no stats (except to say that it's much more common in men) and that most doctor's will never see it.

The cardiac consultant did say I could have a syndrome but that it would be hard to diagnose.

Now I'm wondering what else awaits me.

I'm just posting this here in case there are any leads out there at all.

😶

Ask mumsnet HQ to change the title to add the names in - when you are dealing with rare stuff you are much more likely to get helpful eyeballs on your thread if people see it in the active list and click because they recognise it.

The chances of someone with relevant experience clicking on a generic title is quite low.

Thanks @DoAWheelie , the condition is so rare I don't think anyone would have heard of it.

@lidlbitupset- just wanted to jump on and talk about cardiac matters esp fainting in street. This happened to me recently- it def wasn’t a ‘normal’ faint. I landed on my face and broke my nose.it was very traumatic.
i had all the immediate heart checks in A&E, had an ultrasound, 24 hour lead. All normal. The acute medicine Dr who gave me the results over the phone said it was a ‘stokes Adam’s’ attack which when I looked it up, it could be fatal. Then I went in to panic mode, emailed him and he referred me on for an implant monitor. In the meantime I’m going to have a 7-day lead this week so hopefully(!) that will catch something. The Drs seem v blasé about this attack but all I read online is doom and gloom.
i’m also a relatively heathy 50-something, I walk a lot, eat well, cholesterol is normal.
I have had palpitations since as long as I can remember but they’ve never been picked up on a monitor/cardiogram.
What can a cardiac mri pick up over an ultrasound? U

Hi @Goatymum ,
that sounds traumatic. I fell in the street too, and smashed my head on some railings and got a concussion. Unfortunately with these sporadic things, it's hard to know what's going on because as you say, when they monitor you you're normal. I had the implant which came with a console for nightly downloads and some kind of handheld thing to report an event. They said I would subsequently need a pacemaker but they haven't said anything and the monitor is now out of date.
The cardiac MRI was to look for any damage in the heart or arteries that could cause the short-circuit, but didn't actually find anything.

I've googled Stoke's Adams. Have they said you will need a pacemaker?

Are they certain of your diagnosis?

My sister has Stokes Adam’s, was diagnosed 28 years ago, had a pacemaker inserted and has been absolutely fine ever since.

@Tiddlywinks63Thanks, that’s Interesting. Can I ask how they diagnosed it and how long she waited for her pacemaker to be fitted? I really want to learn more about it (if I have got it) and how it is formally diagnosed as i feel it was just one medic’s option on what happened (and he’s not a cardiologist). I know it’s quite rare but I don’t want to google as it makes me too anxious.

If one of your consultants says you might have a syndrome can you ask about genomic testing. The nhs did a full genome mapping on Dd, apparently the cost is £thousands. Took a few months to get the results back but she had a lot of stuff going on and they suspected it was a syndrome.

@lidlbitupset- it was vey traumatic, it’s such a horrible thing to happen isn’t it?

As far as I’m concerned I haven’t had an official diagnosis - no tests have proven or disproven it. I also have epilepsy so it muddies the waters a bit. My neuro (who I saw more recently) thinks it could be a rare epileptic event that involves the heart.

The neuro is great and he’s the one who’s organised the 7-day monitor and referral to cardiology. The Dr who told me it was Stokes Adams was so dismissive - he just said ‘it won’t happen again’ - and the follow on about the implant isn’t until Sept (and I had to push for this).

For a number of years she’d had so-called ‘fainting episodes’ especially if she got stressed. Would literally go down as if pole-axed. On a number of occasions ambulance was called but by the time they arrived she’d recovered.
This ramped up when she was pregnant but put down to the pregnancy.
Then one day she ‘fainted’ and couldn’t be roused, a neighbour luckily was there and realised she’d arrested and did everything right. She was blue-lighted to hospital, arrested 7 times in the next 12 hours before they could stabilise her.
Luckily the doctors were on the ball, she had a pacing wire for 3 days until she was well enough to have the pacemaker.
I think hers was an extreme case, the episodes had be going on for more than 15 years before diagnosis.

@Tiddlywinks63- thank goodness she got the help from the neighbour. I’m glad she’s well now and has the pacemaker. Idk why I was dismissed so thoroughly when the doctor said it was SA. He should’ve known it could be fatal.
i also went down like I was poleaxed. I lost my memory of what happened immediately prior to the attack and I was confused in waking, but by the time the ambulance came I was fully compus mentis, but my face was a real mess.
i do have a fainting history but this didn’t feel like a typical faint at all.

thanks @JulietteHasAGun , the private consultant did mention it, I will write to her. She has to decide on a follow up to my implant anyway.

@lidlbitupset how did the optometrist diagnose Terrien's? Did you have a corneal topography done? Or did they just suspect you had it.

Hi @jetlag92 i had a pentacam topography scan showing a subtle area of corneal thinning. It was two years ago, they told me to come back in 9 months but i didn't get round to it. She didn't seem to think it was a big deal and said she didn't know how the optician even managed to pick up something so subtle. She certainly didn't tell me I was some kind of opthalmic unicorn! However I went for an eye test recently and the affected eye has gone from a mild reading prescription to minus 4. My left eye is still pretty much perfect. Thanks for posting