neuro has suggested ALS

[Clairelouise]

Hi guys,

I just wanted to say first up that I'm sorry for adding to the "worried but not sure" posts that you guys have to read here all the time. I have read the stickies and searched through the posts before posting so I'm hoping I don't end up saying some thing covered in those :/
To be honest, I'm here asking not about me, but about my mum. She is 64; I'm going to admit I'd never heard of ALS before my mum was referred to a neurologist a few months ago and he has told her that with everything else coming back fine, he can only see Lou Gehrig's disease fitting her issues, which of course made me instantly try to find out exactly what that means.
I don't want to Dr Google it, I thought maybe asking people who know what they're talking about if it sounds familiar might help me to help her, even if that means telling her no that's not it, let's try something else.

My mum is the "I'm fine, don't fuss" type, so how long any symptoms have been happening or any beyond my direct knowledge is not something I'll guess at. I'll just tell you what I know.
She has been getting progressively less capable of doing things for herself in that she hurts herself easily (tries to lift or carry things and she can't, as in can't actually pick them up as she doesn't have the strength, can't walk as far ie when shopping without a break and paying for it the next day, needing help to go from sitting to standing, walking upstairs etc), complains of muscles in her back tensing up and sometimes her calf muscles, after no activity, but I assumed that was due to the fact that her posture and therefore (?) The way she moves/walks has changed, all of which I'll admit I've put down to get getting older which I'm hoping is exactly the case.
She started losing her balance a few years ago, over the last two years has fallen (without tripping) a few times, one cracking a rib and a second time breaking her arm. Then gradually, this turned into her not being able to walk in a straight line and now she is in a wheelchair to get around lest she fall and seriously hurt herself. They put her into the hospital last year suspecting a small stroke after a few weeks of her balance being noticibly worse, but MRI and ct came back normal, no bleed, no clot etc. She had ears checked as well.
Then, a few weeks ago she started to stutter and really had to drag the words out. Again back to the hospital, again suspecting a stroke, again with normal MRI and ct etc. Cognitively she is/was absolutely fine.
She developed blood clots in both legs which won't go away but, sure that's unrelated or if anything probably more attributable to being in the wheel chair all the time (?).
At the moment her doctors are lost for an explanation - at first they were so sure of stroke, but after tests ALS is the only thing left on the table from things they've thought might be the cause. She hasn't had a test for muscle weakness.
Mum is of course worried since she doesn't have an explanation for all that's been happening but none of us know what the next step should be. After reading about ALS I'm hoping you'll tell me that I'm right, that those things aren't ALS at all and I can help her find a next step from here.

 

[affected]

Hi Clairelouise,
I'm so sorry to hear about how this has been progressing for your mum.

Have they done an EMG? They normally test muscle weakness just with their own hands, and test reflexes, so maybe they have looked at this.

Is she having any difficulty swallowing, particularly liquids?

Is she stuttering or slurring do you think?

You say a neuro has suggested ALS in the subject of the thread? If they suspect ALS they should be sending her to an MND clinic (I see you are in Australia), there will be at least 1 in Sydney where the neurologists there specialise in MND and will know the next steps that should be taken to either diagnose it or rule it out.

I'm not saying I think it is or it isn't, but with those symptoms and the other clean tests I would be heading that way myself.

Please let us know how you go, of course you may have to wait anything up to a few months to get an appointment unless the doctors that have been seeing her can fast track it for you.

Tillie xx

 

[Clairelouise]

Hi affected, thanks so much for replying.

She's had some issues with eating, but not swallowing per say - she describes it as that feeling when something gets to your aesophogus (sp?) And won't go any further... But not in an annoying way, in a way that it actually causes her discomfort. I didn't think that was related though, she hasn't mentioned anything about fluid or trouble with actually swallowing.

Her neuro, after ruling out ear problems for her balance, stroke etc, doing MRIs, CTs etc said he thought it might be ALS, but I'll be honest that's all we know as dad nor I were there during that consult, it was done while she was at the hospital.

She lives in a tiny country town, her nearest hospital is in another small town about two hours from her, which unfortunately has left us with a 'break in care' if you will; her drs where she is can't do much more for her at this point due to lack of facilities, but she has had her case referred to a specialist in Sydney - her neuro passed the case on, telling her it might be a while before she heard, he called her personally about a week later to let her know he wants to organize a referral through her regular gp to go to Sydney to see him. So I know at least an answer may be on the horizon, whatever that answer may be.

I'm not sure how to describe her speech I'll be honest - her words are dragged out ( I apologize sincerely for the crude representation but for example good comes out as goo-oo-d). She often stops and gets frustrated before continuing, and she is deliberately choosing shorter words as she gets exhausted talking for too long, speech is an effort. Other times two words sound like one, as if she's trying to talk to fast with a bit of a stutter. Hope that makes sense.

She hasn't had an EMG, they checked her reflexes etc while she was at the hospital but I'll be honest in that I don't know exactly the outcome/what was said about that.
Should I get her to request an EMG, or will that be done with the specialist in Sydney do you think?

 

[Nikki J]

At this point I would wait to get EMG until you get to Sydney. If the local Neuro had felt comfortable doing an EMG presumably it would have happened before or immediately after raising the issue of MND. The Sydney neuro might want to do their own anyway. I am so sorry your mum is having such a hard time. I am not familiar with your system but anything you can do to push this along would probably be good. Can you ( or mum or dad) call the gp and beg them to see how quickly they can get appointment?

 

[affected]

Thanks for answering those questions Clairelouise,

Small country towns definitely make the process more difficult as she needs access to specialists obviously. The process to diagnosis is long and difficult for everyone, and part of the process is often to observe progression.

To be fair to the health professionals there, it is possible that small town neurologist has never seen a case of ALS.

Are you going to be able to go with her to the Sydney appointments? It sounds to me like she needs someone with her at these appointments. It is hard for any one person to take in this information when dealing with the doctors, so a second person is really helpful.

You said she lives in a country town, have you been visiting her (you didn't say how far away from you she is) and seeing much of her symptoms, or mostly talking by phone?

EMG's are specialised and they possibly can't even do one where she lives, and it is better being done in Sydney by specialists in ALS fields.

This is distressing I know, but the process to diagnosis is a long one very often, but the good news is that when she gets to Sydney most of the tests that have ruled out stroke etc have been done, so they already have it narrowed down a bit.

 

[Clairelouise]

I actually just moved to Sydney myself (they're in the same state but the north), so I am definitely planning to be there with her for the appointment. My mum has the tendency to just go along with whatever is happening and dad with the best of intentions tries not to 'interfere' with her appointments by asking questions for her - not that I would do that, I just want to get a handle on what to expect, where to go next, how to help. So I think having another pair of ears might help?
We only moved recently and prior to that saw her all the time. Dad would mention things but see in her a few weeks apart any difference he saw were very obvious to us when we saw her again if that makes sense. It was all gradual, and the idea of stroke at first shocked us as wed seen her getting gradually worse over time, but obviously we aren't doctors and had been putting the gradual change down to age. My dad is 71 without the progression of things mum has but again, we just put it down to people aging differently, especially since mum doesnt see drs willingly and is always saying she's fine, just adjusting as she can to no longer being able to do certain things - until the recent obvious declines and hospital stays which made us realize it was all related in one way or another. Admittedly in hindsight, she really isn't old enough to be worried about declining so much so have to admit I've got the guilts for not seeing a problem earlier. We'd never heard of ALS or any other neurological diseases so it never even crossed our minds.
But for right now it's basically over the phone, over Skype and talking to Dad (who is obviously a bit lost and worried as well).

Affected: I think that's exactly it, they can't/don't want to give her an answer like "we really think it's this" or "no, we don't think it fits this" without the right resources/experience with it which is very understandable. It just means we have very little info or ideas of what to expect. This is by no means any ones fault, just frustrating.

That's how I ended up here - obviously if it fits ALS or something similar then all we can do is wait, but if it didn't/doesn't, we could/can try and get the answers she needs else where in the mean time.

You have no idea how much I appreciate your replies and advice.

 

[affected]

It is really hard Claire I can sympathise when you aren't even that close geographically to them.

Are they closer to Sydney or to QLD? I ask that as I've been told by people in Aus that there is a good place on the Gold Coast and in Brisbane if they are in the north?

Please remember I am not a doctor, but I would suggest that whatever this is, getting to a neurologist who understands ALS is the next best step as most other obvious things have been ruled out. That neuro can then best advise what direction to take if they rule ALS out.

The waiting is so hard, all of us here have been through that, and I remember it so well myself as we were only diagnosed last year.

 

[Clairelouise]

Hi Tillie, thanks.
Sorry yes I meant they are in the north of NSW, I just moved from Brisbane and they're in northern NSW, about an hour over the border - lismore is the closest town to them if you know where that is.

I thought she should go through the princess Alexandria or royal Brisbane as they are both close but apparently the problem is that as she is in NSW and her care thus far has been through the NSW state system they can only refer her through the same state system.

Yeah it's difficult being so far, not being able to get to her easily but I speak to her almost everyday to see how she doing and give her someone to talk to.

 

[affected]

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