Neurology appointment today

Originally I was with an MS specialist for four years who felt it was MS on examination. I’d had optic neuritis and spastic paresis. However my MRI only showed optic atrophy. I was discharged after four years and gave up looking.

Now I’ve had symptoms for fourteen years. I was referred to a Neurogeneticist and had a probable hereditary neurogenetic disorder. I had seventeen blood tests and DNA tests.

Last year the neurogeneticist and neuropthalmologist had a joint appointment with me. They felt it was neuromyelitis optica. However my blood tests came back normal so that was ruled out.

Today I’ve had an extensive neuro exam. I have optic atrophy, spasticity and ataxia and various other symptoms. They are now looking at very rare mitochondrial disorders. I’m also going to have a muscle biopsy done.

At the age of 38 I developed what they said were typical symptoms of demyelination. An MS specialist felt it would be benign MS as I wasn’t showing lesions.

My condition has progressed over the years so I now use a wheelchair outdoors, have swallowing problems etc. My last appointment was 14 months ago and my next appointment is for a years time.

I told the MS specialist I didn’t think I had MS. Sometimes some of us have to go through a bloody long haul to get a diagnosis. We have to learn to be patient and neuro’s have to take a watch and see approach.

There isn’t any treatment and my legs and vision aren’t suddenly going to get better. My dad had similar symptoms but not as bad. My youngest brother has a spastic gait so they want to check his DNA next to mine. He’s bipolar, agrophobic and is paranoid about Dr’s so refuses to see anyone.

What I’m trying to say is don’t give up but keep plugging away until someone listens. If something is wrong the signs and symptoms will become increasingly ovbious.

Jacqui x

Hope your appointment has gone well Jacqui. Teresa xx

Dear Jacqui,

despite all that you are facing you still find it within you to offer encouragement for the rest of us. Thank you for that!!

I really do hope you got the answers that you were looking for today!

Mandymoo x

Hi Jacqui

What an example you are . Fourteen years of symptoms without definite answers must be awful (a bit like Poll). I’ve had problems for just over 5 years and that seems bad enough.

To be having no treatment as well as no answers must be really frustrating. I’m pleased the Neuro is taking you seriously and arranging other tests, but a year to wait for another appointment when you have such debilitating symptoms seems awful.

You have learnt to be so patient (I’m not good at that!), but as you say, eventually, enough symptoms will show up to make a diagnosis possible. I just wish you could have someone, like your Neuro, to talk to about it all more often.

You’re an inspiration to people like me Jacqui in my long Limboland journey, so thank you and I really hope you get the help and answers you deserve soon. You’re an angel to us .

Bren x

Hi Jaqui

As the others have said - you’re an inspiration . Makes me feel a bit like I’ve only been on this journey for under a year - I have nothing to moan about. Hope you get your diagnosis soon.



So pleased that it was a productive appointment Jacqui. (I’ve been thinking of you!)

Karen xx

Thank you all. I’m certainly not an inspiration. There are plenty of others like me who have been going through the mill. I’m lucky that I’m with a wonderful team who actually do research on rare neurogenetic and mitochondrial disorders.

Jacqui x