going through diagnosis, struggling to stay hopeful

[Kelbi]

I had really rapid onset of really painful cramping, weakness, and wasting in my left arm a bit over two years ago, not long after I turned 30. I was stable for a long time, maybe about year and a half, but the weakness has now spread to my left leg, and my speech is slurring a little. My neurologist got really concerned at our last appointment. Well, after months of waiting I finally saw the neuromuscular specialist, and it wasn't encouraging. I guess my EMG results weren't great although I don't know the details. He wasn't ready to make a diagnosis, and we're testing for everything under the sun (more blood tests, genetic tests - does anyone know how long the results for those should take?), but his candid opinion was that of the things that might be causing this, ALS is at the top of the list.

I've been getting a lot more exercise lately, and there's been some improvement. My arm is stronger than it was six months ago, and walking is getting a bit easier. I feel like that has to be good news?

But I'm really scared. I'm trying to make the most of each day but it's hard not to just break down. Not sure what else to say.

 

[lgelb]

Sorry to hear this news. Whatever diagnosis is made, you will want a second opinion. Feel free to post your de-identified EMG.

You are right, symptoms of ALS usually don't get better with exercise, but it sounds like other things have gotten worse, certainly cause for concern. Is the specialist at an academic medical center?

Keeping your own soft or hard copies of key documents such as the EMG report is a good idea, if only for your own reference.

Making the most of each day isn't easy when you're scared, but in this case, you don't control the diagnosis, only how you respond. The day will pass whatever you do with it, but it's yours while you have it.

Best,
Laurie

 

[Kelbi]

He is at an academic medical center, yes. Do you think I can request a copy of my EMG report from his office? I'm honestly kind of afraid to.

I don't know if it counts as a second opinion, but my neurologist (not the specialist) used to work at an ALS clinic, and she thinks my clinical history doesn't entirely fit with what she's seen in cases of ALS before. She's not a specialist but she has been seeing me for longer. I'm finding the mixed messages really confusing, although I guess they are both agreeing there are still other possibilities at this point.

Making the most of each day isn't easy when you're scared, but in this case, you don't control the diagnosis, only how you respond. The day will pass whatever you do with it, but it's yours while you have it.

Thank you. I'll try to take this to heart. I'm seeing my primary care doctor soon and I'm going to ask her about counselling.

 

[KimT]

Hi,
It sounds like you're doing all the right things. Make sure you inform the neurologist about your exercise. I would definitely get a second opinion if you're diagnosed. Good idea to see your primary.

 

[Kelbi]

Thank you for the support, Kim.

I saw my GP and she recommended a low dose of mirtazapine to help me sleep. It seems to work although I was a bit groggy afterwards. I guess it will take a few weeks to adjust.

We also went through my neuro's notes from my last appointment. It turns out she did specifically refer me for a differential diagnosis of ALS, although she indicated at the time that she had a gut feeling it was something else. I remember that the specialist's "top of the list" remark actually was made in the context of why I had been referred to him. So maybe I read too much into it at the time. I might be grasping at straws but it made me feel a bit better anyway.

With that said I've decided not to request my EMG report. Knowing what's there won't change it and I don't want to gamble with my mental health right now.

I will update this thread if I need advice or learn something new. It really helps to have somewhere to discuss this stuff with people who understand it.

 

[KimT]

I also take Mirtazapine right before bed. After a few weeks, the morning grogginess should go away. The two side effects that I experienced was weight gain and constipation, both of which I now have under control.

 

[Kelbi]

I've had a drastic improvement after changing my sleeping posture, of all things. I'm convinced the biggest part of what's happening is some kind of cervical spine compression.

The issue is that I've already had several MRIs of my cervical spine, including one in full flexion, and we never found anything. Both neuros thought further scans would be pointless and the MND specialist basically dismissed the idea that this might be a neck problem.

I have to decide if I should try to debate this with them now or just try to take care of myself until my next appointment.

 

[Kelbi]

I think I've been diagnosed? I didn't get the riluzole talk, or a referral to an ALS clinic. Just "the evidence is overwhelmingly pointing towards ALS, you can have a second opinion if you want, see you in 2 months".

I don't really understand what's going on. The difference since my last appointment, to me, was night and day. I thought I was doing so much better, I am doing so much better, but none of it turned up on the exam. It makes no sense to me.

 

[Bestfriends14]

Hmmm, that must be so confusing. I'm sorry he was so flippant with his remarks. Were you able to get a copy of your EMG? If you have your provider's app downloaded on your phone, the EMG will have been uploaded there.

 

[Nikki J]

I would say I definitely want a second opinion at an ALS clinic and ask for riluzole. If the second opinion overturns the diagnosis which definitely has happened riluzole is unlikely to hurt you. My clinic prescribes it when they suspect ALS as it helps most given early. And I would be calling and messaging not waiting 2 months and wondering. Really sorry you were treated that way

 

[Kelbi]

He wasn't really flippant, I'm just upset that he left without talking about what I'm supposed to do now. He did suggest testing for a broader range of ALS genes and I agreed, but I'm wondering now if that's just drawing this out pointlessly; I have no family history of it.

I'll try to get a copy of my EMG report this time. I didn't want to listen yesterday but he did tell me that on this one there were clear signs of nerve injury in my leg and thoracic muscles, not only the arm. As much as I want him to be wrong, I doubt he's seeing something that isn't there.

You're right that I shouldn't wait, Nikki. I'll get in touch with my neuro again and ask about the riluzole and referral.

And thanks everyone for the replies and advice, it helps. I feel so lost right now.

 

[Nikki J]

Testing for ALS mutations is considered best practice. I am sort of surprised this person did that given they didn’t do anything else. About 6 percent of apparent sals will show a mutation although some of that is due to incomplete family history and misattributed paternity

 

[KimT]

I'm glad you're getting genetic testing. Someone from my home town, with no family history, came up positive for SOD1. She is now on med. for it and has not progressed since starting it.

Get a copy of that EMG and the doctor's notes if they are on a patient portal. I was offered Riluzole at my first appointment when they were unsure, just based on the EMG.

 

[lgelb]

Very sorry to hear and agree that you need a second opinion and the EMG, along with chart notes. If they really thought you had MND, I'd have expected a clinic referral. Whether your perceived improvement is clinically significant or not, obviously, we can't judge from here, but the more data you have, the better.

 

[Kelbi]

My registration for the portal finally went through. If the actual EMG is on there I can't find it, but I did get the notes.

March: [Nerve conduction studies] In the left arm and both legs, and EMG in the left arm, leg, thoracic paraspinal region and abdomen. The nerve conduction studies were essentially normal aside from some mildly attenuated motor responses. The EMG revealed active and chronic denervation spanning all cervical innervated muscles tested. Assessment of thoracic and abdominal muscles was very limited by poor relaxation and therefore was difficult to interpret. Examination of the lower limb muscles was normal. Taken together, this pattern of findings could be compatible with an evolving motor neuron disease with preferential/early cervical involvement, or potentially a cervical polyradiculopathy.

June: Electrophysiological testing performed today included nerve conduction studies in the left upper limb and both lower limbs, and EMG in the left arm, leg and thoracic paraspinal region. Nerve conduction studies revealed patchy, attenuated motor responses with preserved sensory responses. The EMG revealed active and chronic denervation spanning cervical and thoracic segments, and in a more patchy distribution in lumbosacral segments. Taken together, this pattern of findings is felt to be most in keeping with a generalized motor neuron disease, though could also be seen in a polyradiculopathy. These findings are more pronounced compared to the prior study, particularly given that there is some spread into thoracic and lumbosacral segments.

I have to quibble with the "more pronounced" bit. We'd never successfully done any thoracic muscles before, and I'm almost certain that my neurologist was seeing lower limb problems on my EMG in Februrary; that was part of why she referred me to this specialist.

Reading through the notes, he apparently plans to refer me to a clinic after our next follow-up. That was supposed to be booked for August but I haven't heard anything yet. I suppose I should get in touch.

Second opinion is in two weeks though. I'm still feeling a lot better physically, but my expectations for it are low.