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Renwards

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PALS
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AU
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SA
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Hello there, I’m Karen, I’m 53.
My problems started a while ago and I have been so confused, upset and angry with doctors since this has all began. I really don’t think I have MND, or maybe I’m in denial but it just doesn’t add up to me. I would really like your opinions and guidance, it would be greatly appreciated. Sorry this is so long.

Timeline
January 2017 started having problems with both Achilles.

Early February 2017 I choked on saliva (at first, occasionally, and then progressively worse.

Mid May 2017 both Achilles were injected.

Late May 2017 I notice a slight slurring of speech, Towards the end of the day.

Early June 2017 went overseas with family, my niece noticed my speech.
Whilst overseas I had a slight pins and needles feeling down my right arm, across my right cheek and a buzzing feeling on my tongue (like when you stick your tongue on a battery).

Mid July 2017 I went to my GP, he ordered an MRI (nothing unusual) referral to a neurologist.

Early September 2017 appointment with neurologist. He ordered blood work and placed me on 50mg of prednisone for 2 weeks and then tapering.The prednisone had a huge affect and my speech improved 95% but, when tapering my voice returned to slurring. Pins and needles in left arm now.

Early October 2017 I returned to the neurologist. All blood work was clear. He place me back on a different prednisone 25 mg. This made no difference at all. (I believe I was supposed to be on 50mg and there was an error with either the doctor or the pharmacy. Silly me did not realise this for a few months)

Early December 2017 Back to neurologist. He transferred me to another neurologist with concerns that I may have bulbar onset MND. This neurologist is a sub-specialist in MND.
His report states that, I have a 10 month history of progressive dysarthria and now developing dysphasia. (I have trouble swallowing tablets and some particles getting stuck in my throat, and still clear liquids/saliva). My tongue was not particularly wasted and he could not identify any fasciculations. Jew jerk normal, upper and lower limbs normal. An initial trial of steroids had a good response but a second trial of a more sustained treatment had not worked.

Mid December 2017 New neurologist report states that he is suspicious of MND as the cause of my dysarthria, but there are unusual aspects to my story, such as the initial response to prednisone and sensory symptoms which are difficult to explain.
He organised a ultrasound of my tongue, to see if fasciculations could be confirmed, and an EMG, nerve conduction test and pulmonary function test.

Mid January 2018 I had the EMG, nerve study. I asked the neurologist the findings, he stated “nothing to be of a concern”
I also asked about the ultrasound, he stated that they couldn’t find anything.
I had a Tensilon test for MG which was negative
He also put me back on prednisone at 50mg.
I also had manometry studies with another doctor, his findings were that, they were not typical of the pattern that he has seen with other patients with MND, having tension rather than relaxation in the upper parts of the oesophagus and he was unclear of a potential cause of my symptoms.

Mid February 2018 I returned to the neurologist with my partner, having been on prednisone 50mg for 2weeks.
In his report, he states that my partner and I believe that my voice had improved 50%, that was not evident to him. He suspects that any beneficial effect from prednisone may be a psychological effect from the medication. On examination he found, dysarthria speech, no definite tongue wasting or fasciculations but my tongue was weak and slow. Jaw jerk mildly brisk. No other cranial nerve abnormalities.
He states that, despite atypical manometry studies, he doesn’t believe that MND cannot be excluded as potential diagnosis at this stage, and is struggling to think of an alternative diagnoses.
Neurologist says wait and see for anymore symptoms, come back in 3 months.

During this period I see my GP, because I see my GP a lot, he has stated that there is a difference in my speech on prednisone. I go back on it at 75mg. Within days my speech is a lot better with friends and work colleagues commenting on how much my voice has improved.
I also ask my GP for a test for Lyme which was negative (I visited the Lake District UK in 2016 and was bitten by a tick)

May 2018 returned to the neurologist. I said I had been back on prednisone and had an improvement with both speech and swallowing. I had recorded my voice over a period of a few weeks to show the improvement.
His report states that my speech dysarthric, no wasting but suspicious of occasional fasciculations, tongue week and slow. He states that the ultrasound done on my tongue did suggest the presence of fasciculations (not what he told me earlier) and in combination of clear tongue spasticity is consistent with bulbar MND. The apparent improvement is difficult to account for, but wonder if this may be a psychological effect.
Referred to another neurologist.

June 2018 Third Neurologist. Her report, 12 month history of slowly progressive bulbar disfunction, marked dysarthria & dysphagia. Repeated trials of oral corticosteroids have resulted in minimal & non-sustained improvement of function. Tensilon test & AChR Abs are negative (Anti-Musk not performed), which would not support the diagnosis of MG. She states that I was upset at the prospect of being unable to exclude bulbar-onset MND. She will review all info and has ordered more tests.

To add to this info,
My speech is always worse towards the end of the day.
I slight problem with controlling my saliva.
Whenever I come off prednisone I have twitches all over my body that can last several weeks ( potassium deficiency ?)
I still have no weakness/atrophy in my body.
I still have this buzzing pins and needles in my right arm and sometimes leg.
My Achilles still play up, whenever I’m on prednisone they clear up to the lint they feel normal and I can walk several kilometres without them giving me grief.
It’s just weird that both my voice and Achilles cannot be sustained on prednisone.
 

affected

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oh Karen what a long and awful path.

I am not saying I think you have MND, but have you contacted MND SA at all? I've included a link to their site and you can go to the contact us and get some great advice by calling them in the morning.

I think you should and ask who is the best MND specialist to see in Adelaide and get a referral to really sort this one way or the other.

As I say, I'm saying I think you have this, but I know that it took a long time for us to get to the right person and for us it was a speech pathologist that sent us to an MND specialist. (Far North Coast NSW)

This will allow you to truly rule out or in an MND.

http://www.mndsa.org.au/
 
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lgelb

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Hi Karen,

Very sorry to hear about the last year and a half.

If you could share the EMG report, and we do recommend that you have your own copy of all results, that may enable us to be more helpful.

Since there seems to be a question about whether the prednisone is helping your speech or not, maybe you could see an SLP who can advise on strategies, and track your speech quality from where you are now, at least, as well as any recordings you have from the various steroid phases. I am not clear on whether you are on pred at this point?

Do let us know what happens with the other tests being ordered. Again, I would collect all the results in any event.

Missing a lot of information, my main thought is that bulbar-onset ALS after a year and a half generally manifests in more ways than you have seen, and, of course, is not steroid-responsive. So that sends my mind off to things that I am sure have been ruled out, like a series of small strokes, an ongoing circulatory compromise, an encephalopathy, or even an adult-onset muscular dystrophy.

Obviously, none of us is in a position to rule out ALS from this distance, but I agree there's a lot from what you've said that doesn't fit, and you haven't had a definitive dx from docs who have more data than we do. Have any other dx been suggested as possible differentials?

Best,
Laurie
 

Renwards

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Thank you Tillie and Laurie for taking the time to respond.

Today I got in touch with MND through that link you gave me Tillie. The doctors they suggested were two. One is the 2nd neurologist I saw, and the one I’m seeing now, a Dr Hall. I will see how she is and if she listens to me because the one before didn’t.
I have sent them another email for names in Sydney, as I hear they have more ways of testing there. So we will see.
I have had so much trouble trying to get the blood test forms off the hospital in the last few weeks that were requested from my doctor. They were supposed to have been posted, and were not.

My next appointment is on the 7th of August so I will ask for the EMG report Laurie, as well as anything else I don’t have on my file.
I am not on prednisone at the moment, I can still talk but I am worse towards the end of the day and I am still eating as normal. The other thing I forgot to mention , is that my left side of my face is weak, like Bell’s palsy.
The doctor at the moment is looking at MG even though I have been tested for that.
I also went to ENT but they found nothing.

I also have Hashimotos, I was diagnosed 4 years ago, and when this all started my gut feeling said autoimmune disease, (I know if you have one you are prone to more) or something to do with inflammation.

When I find out more information at my next appointment, I will let you lovely ladies know.

Many thanks,
Karen
 

affected

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Glad to know you are seeing the reputable MND specialists. I can say that they would recognise MND from your clinical presentation pretty accurately and then it would be backed up by the EMG.

There are so many diseases that can be difficult to diagnose, and the amount of time it takes can be very frustrating.

If you head to Sydney you would want to see Prof Dom Rowe for sure.
 

Renwards

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Hello there,
I had my neurologist appointment the other day. The test results for MG came back negative. (Anti-MUSK)
I asked her about my EMG, she only has the report and not the actual test, and that states nothing was found. She said that because my symptoms are all bulbar that it may not pick up anything. She said that she may redo the test at some stage.
I have been booked in for a lumbar puncture in a weeks time, after this she is going to place me on prednisone for two weeks at 50mg but she wants me to video the progress to capture any improvement. Last time I was on 50mg there was not much improvement, only on 75mg which is extremely high. So I’m hoping there will be an improvement to show her.
She is also sending all my files, tests etc to a neurologist in Sydney for their advice and for an appointment to see if they can come up with something.
She went over me and nothing has changed since my last appointment in June. She is saying that she is leaning to a diagnosis of MND, as she can’t find anything else after all the testing everyone has done.
Trying to stay positive and live in the moment.
 

affected

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Have they done a modified barium swallow?

When things are slow progressing and not typical it's very difficult.

Do you know who they will send you to in Sydney?
 

Renwards

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Hi Tillie, they have not done a modified barium swallow test. Last time I went to the swallowing/speech clinic she asked if I was interested in more tests and I said yes. She was going to arrange for that but I have not received confirmation on that yet. That appointment was about 3weeks ago. As to Sydney, I’m in their hands, as to when she sends the referral and they can fit me in. I’m hoping it will be soon. I forgot to say, the neurologist has put me on Riluzole as a precaution. Cheers Karen
 

KimT

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Did she consider doing an EMG on your tongue or the muscles in your neck? I would ask for that and a barium swallow test.
 

affected

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To be honest I'd call back and ask about the barium swallow. A good speechie with this tool can really tell a helluva lot about what is going on.

If they send you to Prof Dominic Rowe (he is kind of like our aussie equivalent of Dr Bedlack) he will decide about how and what to do with another EMG.

It's great they have put you on Riluzole because it is certainly true that the earlier you start it, the more likely it is to give a good result helping slow progression. If it turns out you don't have MND, then it is not something addictive and you can just stop again.

I know it all takes time. I'm not sure about the Sydney clinic, as we attended Brisbane and they only hold an MND clinic in the neurology dept there once a week, so getting appointments is slow. Our speechie sped things up and we got there a month after she first saw us, but often people wait 3 months just for that first one.

With your history, and starting riluzole, hopefully they will get you set up for Sydney in closer to 1 month too. Your local speechie is probably best to stay with anyway and the barium results can go to Sydney with you to help build the entire picture.

In the meantime, finding as many ways to relax (reduce stress), and as many ways to just enjoy life/family/friends/whatever means most to you, is going to be important. Regardless of the diagnosis, you only ever have today, now. If you waste today you will never get it back. It took us many long months until we were referred to the right specialties, and during that time I am so glad we kept focusing on life and what we had and did not waste that time.

Keep us in the loop.
 

Renwards

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Thank you Tillie and Kim, for your advice.
When I had the EMG he did it in my legs, arm, back and in my chin. I have my lumbar puncture next Tuesday so I will ask my doctor about when we can redo the EMG in the tongue and neck and I will ask about the Barrium swallow.
Tillie, I’m hoping once the doc has the results from the lumbar puncture I’ll be off to Sydney, but I will ask again on Tuesday if she has already sent the referral. I’m trying really hard to stay in the moment but at times that’s hard and I’m reduced to tears. I’m finding it really frustrating not being able to speak well, it’s hard socialising, I suppose I’m learning to listen lol We are planing an overseas trip next year so with that and my daughter getting married soon I will have things to keep me busy. Work have been fantastic, they have given me an office job because I can’t speak on the radio whilst driving trams, I’m not clear, its been a hard transition but I’m getting used to it.
Thank you so much for everyone’s input, I appreciated it so much.
Cheers Karen.
 

Nikki J

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If you had an emg under the chin that is one of the sites considered adequate for bulbar. It seems as if it is individual doctor preference whether they do that or one of the other two. If you are being referred on they may decide to do another EMG of course

Good luck
 

Renwards

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Thank you Nikki, the last one was clear I can only wait and see what the next one will reveal.
Cheers, Karen
 
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