Undiagnosed motor neurone/muscle disorder

[PaulaF]

Has anyone else experienced anything like this?

10 years ago – had low protein, creatinine & phosphate in blood tests; sweating and flushing on eating anything

4-5 years ago – increasing weakness and atrophy of all muscles; substantial weight loss; loss of appetite; frequent coughing fits; high creatine kinase, alkaline phosphatase, alanine aminotransferase & ferritin; low transferrin; tests of thyroid, autoimmune antibodies, lung X-ray and stools all normal

3 years ago – some leg cramps/ripples (now mostly gone away); EMG nerve test normal

1 year ago – creatine kinase further increasing to 8 x normal; loss of reflexes

Recently – further decline in strength and energy; weakening voice; acetylcholine normal; SMA genetic test normal; muscle biopsy normal; repeat EMG test showed no evidence of neuropathy, but denervation & reinnervation in all areas tested

Still no diagnosis, so any information or suggestions appreciated.

[Ellie]

MNDConnect might be able to give you advice.

Have you been tested for myasthenia gravis?

[PaulaF]

Thanks for your reply. I think so. Acetylcholine antibodies were normal, as were other antibody tests. The denervation and reinnervation on the most recent EMG seems significant, but the initial symptoms, odd blood test readings and atypical progression make it difficult to understand. Diagnosis is taking a very long time.

[Lynne K]

Good luck for a diagnosis at appropriate treatment soon. It’s horrid to be waiting for a diagnosis. I’m sorry that none of us can help with that, although I would say that I’ve never heard anybody who has MND speak about those clutch of symptoms. Lynne x

[PaulaF]

Thanks, Lynne. It's the blood test readings that are a bit strange, and the fact that the EMG was normal 3 years ago, but not now, despite the muscle problems having been there for 5 years or more. If someone else had something similar, it might provide a clue.

[PaulaF]

Just diagnosed as MND.

Is it normal to have no appetite? Any suggestions for overcoming this?

[Ellie]

Sorry to hear of your diagnosis Paula, but a warm welcome to the forum family.

Do you know which form of MND you have?

Some people experience loss of appetite, others don't. Loss of appetite can be due to a number of reasons including; lethargy, mood, side effect of meds, constipation, trouble swallowing.

I know it can be hard to get nutrition into you if you have no interest in eating, but it's really important to keep up your calorie and fluid intake - I always say that MNDs are hungry diseases.

Do you attend an MND Clinic with a Dietitian on the team? A Dietitian can assess you and give you target intakes and, if necessary, prescribe supplementary nutrional drinks. (GPs can also prescribe them)

Love Ellie.

[PaulaF]

Thanks, Ellie. I'll check on those drinks.

They've said ALS, but awaiting a second diagnosis. Nothing else yet, it's early days.

[LindaB]

Sorry it's not better news PaulaF but you're in the right place for support and advice. It's a tough time between initial diagnosis and 2nd opinion. Feels like you're in limbo.
I lost weight initially the anxiety/shock of the diagnosis caused me sleepless nights and loss of appetite.
CBD oil helped well that's my view. I bought protein drinks and high calorie snacks and really had to make myself eat little and often. Weight is stable now however I think for me that's something I have to keep on top of. I'm speaking to the Neuro team dietician this week👍
Fortunately I had weight to lose....but yes it's a disease that means no more dieting (according to my consultant)

[matthew55]

Weight loss in MND is inevitable like the tide eccept the MND tide only goes one way and that's out! 🤔🤭😄😍xx

[Beemer]

Sorry to hear of your diagnosis Paul, at least you now know, crap that you do.
l have lack of appetite and associated weight loss, but I had the weight to lose.
I see the weight loss as an advantage for anyone having to pick me up off the floor or chair/bed/stairs, my weight has gone from 86kg down to 72kg, my target being 70kg which would be nearer the ideal for my height.
I find that not being able to be active, means I dont need the food intake.

[matthew55]

17st to 9.5st still a lump at 6'1" 😁😄🤭😀xx

[Mmsm]

62 kg to 50 kg now and still lost.
9.7 St to 7.8 St and still lost weight 😔.
I try hard to eat and drink more but more difficult day by day.

29/06/2021 Bulbar onset MND

[Mary C]

Hi PaulaF

Sorry to hear about your diagnosis but hope you get some support on this forum.
Ask what you like and usually some members will respond.

I lost a lot of weight in the 6 months waiting for diagnosis due to feeling anxious.Lost more weight recently as not much of an appetite.Maintained weight for last 3 weeks.I have been prescribed fortijuice which is preferable to me than the ones like sweetened milk shakes(fortisips)Prescribed by dietician.
I can drink them chilled if I have a day when not eating enough.
Do you still get the frequent coughing fits?I do and find it irritating when trying to talk or on the phone. My voice is also better weaker.
Hope you are linked to a hospice or community palliative care team as I find I can discuss symptoms with them and get advise .
Best wishes Paula
Mary

[Gordan1111]

Hallo PaulaF. Sorry about your diagnosis. Could it be worry that accounts for loss of appetite? It's totally understandable x