Frustrated wait..

[4x4hawk]

Hi Guys,
Whilst obviously no-one wants to be diagnosed with mnd, I have a text book list of symptoms and I have been tested for every single illness/infection/desease known to share symptoms with mnd, despite every result coming back clear, my consultant is still reluctant to diagnose mnd.
He has gone as far to say and I quote "the least unlikely diagnosis is mnd of limb onset"
Obviously as a double negative that actually means 'the most likely' and since they have ruled out every other possibility mnd is simply the only option.

I have been to see another Neurologist privately on my consultants recommendation, at the time he said that it was one of three things : MND, Lymes disease (which we were awaiting test results for at time I saw him) or Vasculitis. When I returned home I was called by my consultant and told the Lymes disease results were back and clear. Subsequently the muscle and nerve biopsies which were taken in hospital have also come back clear from vasculitis..... again armed with this information no diagnosis.

Is this something that others have experienced?

[Ellie]

May I ask:

What discipline is your consultant?

What are your "text book list of symptoms"?

[4x4hawk]

consultant is parkinsons specialist, but has been extremely helpful. The consultant I saw privately specialises in MND and movement.
I am not one to google things my consultant didn't let on to start with what he thought it was.
Symptoms started with weakness and cramps in my left leg which progressed to foot drop, fasciculations in both legs, lower back, pecks and left arm. inability to complete fine motor functions with my left hand, cramps in my left hand. Extreme muscle wasting in my left leg, less pronounced in right leg and left arm. Swallowing is becoming more difficult and I trip over my words when I'm tired. Can't do stairs at all.
12 months ago I could do Ben Nevis 20 minutes off the world record, today I can't walk 10 feet

[Ellie]

And the MND specialist wasn't concerned enough re it being MND to do/refer you for an EMG?

Have you had pulmonary function tests, swallow study, speech assessments? And presumably you have to use a wheelchair/scooter now - are you getting help from an OT?

And does either Neurologist have a follow up plan for you?

[4x4hawk]

I have had already had an EMG the results of which were ongoing denervation of the thoracic region, weeks before seeing the specialist.
I spent 3 weeks in hospital, 2nd EMG, 5 vials of cerebrospinal fluid for tests, over 40 vials of blood for testing, CT scan PET scan MRI scans, muscle and nerve biopsy and to Finnish off a 5 day course of infused intravenous steroids to completely rule out any likelihood of it being an autoimmune response to an underlying condition. Every test clear. steroids if anything made it worse, and just to rub it in I had an allergic reaction to the steroids so had had to be infused for an hour before each session with antihistamines.
Consultants route forward is another EMG in a couple of months????

OT have been out today, apparently tomorrow it will look like Christmas at my house because of the various aids they are sending over. She was particularly annoyed by the lack of follow up care/ care plan and lack of diagnosis. I was released from hospital into the corona virus world having just had a course of steroids which completely disabled my immune system...something I was unaware of until after I got home.... no-one advised me of this or that because of it I should take any special measures to avoid the likelihood of contracting covid19

[Ellie]

And the results of the 2nd EMG, do you have those yet?

Do you have the summary of the 1st EMG - it should provide some clue as to what may be going on and if a motor neurone disease is in the picture.

[4x4hawk]

The second EMG was 'inconclusive' apparently but the mnd specialist at the hospital suggested the next day I should have gone to Birmingham to have the EMG done privately which in essence just says he doesn't trust they guy who did it!

After the first EMG the contents of the telephone conversation with the consultant was that there is an issue with my motor nerves. the report such as was passed onto me in a letter from the consultant: motor nerve conduction left tibial amplitude reduced, bilateral peroneal response from ebd reduced in amplitude. F-wave tibial nerves both side delayed.
Concentric needle emg on left rectus femurs, tibias anterior and vascular medals revealed active denervation with discrete polyphasic motor units seen. on the right side evidence of active denervation with severe neurogenic changes.

With my limited knowledge I would say that amounts to a 'YES'!! lol

[Ellie]

Your EMG is concerning - was there not an opinion/conclusion given in the letter you got for the EMG report? If not, ask for it and if they can’t or won’t, contact patient records at the hospital in question and ask for it (sometimes a small fee is levied)

Something doesn’t quite fit though: given you’re symptomatic in multiple regions, an EMG would scream ALS and a diagnosis made on the combination of it plus clinical findings (El Escorial scale) So, no, it's not a given that you have ALS/MND.

I know your Parkinson’s specialist Neuro is helpful but it’s time to move on to a neuromuscular specialist you trust, be that privately or through the NHS and get answers. Could you be referred to an MND Care Centre and find out if it is MND? You mentioned Birmingham - QEH has one.

I presume MMN, CIDP and various neuropathies have been ruled out. I sincerely hope you get a definitive diagnosis - psychologically it must be very hard for you.

[4x4hawk]

Thats the frustration Ellie, 2 different consultants have both said its one of 3 things, both have ruled out the other 2 leaving only a form of mnd as the possible conclusion yet neither of them will diagnose. I am not exaggerating when I say they have tested for every single known alternative, over 50 tests in all.
They may not want to diagnose until they know which variant of mnd it is, which I accept may take more time to become apparent. From my personal point of view I genuinely don't care what its called as its name makes no difference to me. What I struggle with is to prepare my 17 year daughter for what is to come, when like most young people she thinks her dad is invincible and in her mind every test which comes back clear is a good thing.

[Ellie]

Then why don't you get the full EMG reports and go to an MND Clinic where they know MND, it's their expertise. If it does turn out to be an MND, you'll be in the right place.

Depending on which part of Warwickshire you're in, Oxford is an option too.

[4x4hawk]

I suppose the simple answer to that is I am naive and foolishly expected that paying a private mnd specialist for a consultation, along with all the tests carried out by the NHS over 2 months as an outpatient and 3 weeks as an inpatient on a neuro ward that has its own mnd specialist would help my consultant arrive at a diagnosis.
So having seen 2 mnd specialists who have both told me it can't be anything else, yet not giving me a diagnosis doesn't inspire me to spend more money going to see a different mnd specialist further away??
This is exactly why I am so frustrated....

[Ellie]

I won’t keep badgering you after this

3 weeks as an inpatient on a neuro ward that has its own mnd specialist

Oh, I didn't realise you were on a neurology ward with an MND Consultant, perhaps the hospital is one with an MND Clinic (MND Clinics are part of the NHS by the way)

So having seen 2 mnd specialists who have both told me it can't be anything else, yet not giving me a diagnosis.

If both Neurologists are insisting you have MND but neither will say so, find out what is stopping them from confirming the diagnosis, what part of the puzzle is missing - you deserve to know that. This is 2020 not 1920, doctors can’t withhold information, nor are you 4yo.

Again, best wishes, stay safe & stay well.

Love Ellie.