Newly diagnosed, atypical presentation, looking for similar cases

[LizF]

Hello,
I was dx with ALS last week, after much testing and an earlier diagnosis of polymyositis. I have been told my case is atypical. My first symptom was leg weakness, which began in thighs before becoming distal, and with a dx of polymyositis had been on a run of Prednisone, on which I showed some improvement but am now weaning off after a muscle biopsy indicated ALS and not a myositis. In addition to the weakness, I now have muscle twitching (worse when anxious). Weakness and twitching are confined to legs, and I can still walk easily with a cane, and manage stairs with a handle or railing. There is increased weakness in one foot, but no Babinski's sign.
This decline has taken about a year. I have zero upper body symptoms/weakness.
Without detailing the extensive testing I've had, I am confident, though devastated, that this is the correct dx, and am now trying to find acceptance. I am wondering if anyone has a like story?
Thank you

 

[soonerwife]

So sorry for your dx. It is a tough pill to swallow. We are here for you. Feel free to ask questions or vent anytime.

 

[Ells]

Hi Liz,

I know you say your dx came after "much testing"; was Neuro an ALS specialist? A 2nd opinion is always a good idea.

In the meantime, welcome but sorry you find having to join us.

Ells.

 

[pittsburghgal]

Hi Liz. I am sorry about your diagnosis but want to welcome you. You will find a tremendous amount of support and information here.

My husband had a similar atypical presentation but it began with weakness in his left hand. He took prednisone and also noticed improvement. The weakness was limited to only the left hand for a few years. His progression was so slow that the neuromuscular specialist initially told him that he definitely did not have ALS.

Sharon

 

[LizF]

Hi Liz,

I know you say your dx came after "much testing"; was Neuro an ALS specialist? A 2nd opinion is always a good idea.

In the meantime, welcome but sorry you find having to join us.

Ells.

I have seen 4 neurologist and a rheumatologist (who said not only was she sure it was not polymyositis, but likely something even less insidious, boy was she wrong). The neuros were in disagreement over the PM dx (2 for, 2 against) but none gave much weight to ALS or MS. It was only after the muscle biopsy that ALS was put out there. I've had several EMG's, MRI, CT scan, blood tests for AIDS/heavy metal poisoning/Lyme/Cushings. Scheduled for a lumbar puncture but after the MRI was clear, the doc felt not worth the risk.
The neuro who gave me the ALS news was the one who oversaw all the other testing and consults; he says he "hopes he is wrong" but really, when looking at the slides of muscle biopsy results and seeing how the fibers were interpreted, I don't see how he can be. But, yes, the second opinion of his findings will be by the ALS specialist in July.

 

[LizF]

Hi Liz. I am sorry about your diagnosis but want to welcome you. You will find a tremendous amount of support and information here.

My husband had a similar atypical presentation but it began with weakness in his left hand. He took prednisone and also noticed improvement. The weakness was limited to only the left hand for a few years. His progression was so slow that the neuromuscular specialist initially told him that he definitely did not have ALS.

Sharon

Thank you Sharon, I am pleased for both of you that he did have that slow progression, but to be told it was not and then have to face it is surely the unkindest cut of all.

 

[Trixie80]

When i was diagnosed i had only had weakness in my right knee and dropfoot, no babinski and only a little twitching. However my brain mri had two white spots which indicate ALS. I had experienced weakness in my right leg for 3 years before my dx. And it was another 6 months befor i noticed it in my right arm and left leg. So like you i was skeptical but deep down i knew the drs were right. Do you fo to GF steong or is there a specialist on the island?

 

[affected]

However my brain mri had two white spots which indicate ALS.

??? I've never heard of this

 

[Trixie80]

Here is a snipit of my mri results


Apparently some of us have this

 

[LizF]

When i was diagnosed i had only had weakness in my right knee and dropfoot, no babinski and only a little twitching. However my brain mri had two white spots which indicate ALS. I had experienced weakness in my right leg for 3 years before my dx. And it was another 6 months befor i noticed it in my right arm and left leg. So like you i was skeptical but deep down i knew the drs were right. Do you fo to GF steong or is there a specialist on the island?

Hi Trixie,
Thank you for sharing. I didn't realize there was an MRI indicator. I had a full body MRI which showed only some disc deterioration in my spine (normal wear and tear); in fact, it was so normal that it was decided the lumbar puncture would not be worth the risk.
I'm headed to GF Strong in July for a consult with Dr. Briemberg. I'm told I'll have another EMG, then meeting with the ALS team. Were you assessed by her? Do you have any information to add on that? (I really, really hate the unexpected. If I'm prepared, I feel I can manage just about anything)
From then on, my ALS will be managed by a satellite rehab centre here on the Island.

Liz

 

[affected]

Thanks for including that summary on the report.

I asked because I've only ever known the MRI to come back clear, giving an indication that it is not something else, and other tests like the EMG to not be clear and show indications of ALS.

Do any of our senior members know about these spots showing on an MRI being common or indicative of ALS? I'm not disputing you at all, I'm really interested because it's the first time I've come across this myself. I'm not a health professional, so I sure don't feel I know everything. I know a lot about the presentation and progression type that my husband had, which was bulbar with FTD.

 

[ShiftKicker]

Welcome, Liz-

There are a few here who have seen Dr Briemberg. She's kind, but straightforward and pretty dispassionate. Her approach is conservative. Come to the clinic prepared with written questions. Ask Dr Briemberg about any medical and drug related questions- the nurse can sometimes be dismissive.

The Occupational Therapist and the Social Worker are brilliant. Any practical questions about how to navigate finances and day to day function are happily answered. Both respond quickly to email.

The physio and speech language pathologist are nice. As is the nutritionist.

Come prepared with questions. Dr Briemberg can be conservative in treatment. She will defer to your family doctor for your actual treatment. I STRONGLY recommend you ask questions on this forum first if you need info about specific symptoms or treatments- and then let your doctor know what you would like to do with regards to treatment. Have a list of questions and concerns to bring to your first clinic and just work your way down the list till you're satisfied with the answers.

Take care-

Fiona

 

[LizF]

Welcome, Liz-

There are a few here who have seen Dr Briemberg. She's kind, but straightforward and pretty dispassionate. Her approach is conservative. Come to the clinic prepared with written questions. Ask Dr Briemberg about any medical and drug related questions- the nurse can sometimes be dismissive.

The Occupational Therapist and the Social Worker are brilliant. Any practical questions about how to navigate finances and day to day function are happily answered. Both respond quickly to email.

The physio and speech language pathologist are nice. As is the nutritionist.

Come prepared with questions. Dr Briemberg can be conservative in treatment. She will defer to your family doctor for your actual treatment. I STRONGLY recommend you ask questions on this forum first if you need info about specific symptoms or treatments- and then let your doctor know what you would like to do with regards to treatment. Have a list of questions and concerns to bring to your first clinic and just work your way down the list till you're satisfied with the answers.

Take care-

Fiona

Hi Fiona,
Thank you so much for this information. All along the dx route, I've taken my trusty notebook full of questions and to take notes. Not one of the appointments has gone as expected, and needless to say I am dreading this one. Being prepared is much better for me, as I mentioned.
I have some questions, now that I have your information.
1. When you say conservative in treatment, what do you mean? As there is no treatment, do you mean with regards to treating particular symptoms?
2. When I asked the neurologist about who would end up being the primary doctor in this, he said "Family doc for other things but generally the staff at the rehab centre". What sort of things do you see your family doctor for? (My concern it that it take a long time to find one here, and after 2 years I found one who is deeply religious to the point that she will not prescribe birth control. Now, that didn't bother me as I'm past that age but clearly it will be an issue down the road with right to die issues and physician assisted suicides...
3. Could you (all of you!) let me know what questions you asked, or wished you had asked, in that first meeting? I really don't know where to start.
4. Can/will the doctor give any idea as to what the progression of the disease might be in individual cases?

That's all I can think of right now, thank you all so much in advance. This is the first place I've found where I feel comfortable.

 

[ShiftKicker]

Liz-

This is just my experience- others may chime in.

1) Conservative in treatment of symptoms. Many people on this forum seem to have access to a variety of treatments for their symptoms. The clinic at GF Strong seems to offer only the most conservative treatments (Riluzole, baclofen for spasticity, vitamin B12 tablets for cramps, SSRi's for bulbar symptoms). The OT is great, but inexperienced with ALS needs- she's new, and is only filling in while the other one is on maternity leave. She will, however, research anything you ask of her and gives great info and feedback. My recommendation is to find a gp who will follow your lead and take an active part in your care. Use the ALS clinic as a way to access needed equipment and for assessment of your symptoms.

2) I use my family doctor for everything. In combination with a psychiatrist (if you don't have a counsellor or psychiatrist, get one!). Between the two of them I have access to what I need for sleep issues, breathing issues, pain control and other things like edema from inactivity, etc. I am fortunate in that my doctor is eager to help, and she subscribes to the idea that the patient is the expert on what is going on with themselves, and she is there to assist.

3) My first clinic was a blur, and was totally overwhelming. I don't think that would have changed, even if I had my act together with regards to questions to ask. I had a friend with me- and the staff at the clinic essentially ignored me and spoke to her only. I was a bit miffed at that. If you do bring someone with you, make sure they will advocate for you.

Ask the social worker about financial things like CPP, tax breaks, grants for home renos, handicapped decals for your car, etc.

Ask the OT about what equipment you may need (this will also be something you can speak to the physio about). Be very honest about your limitations- even for things like bathroom needs. The OT is the person who links you up to the ALS society for equipment loans and information.

4) It seems to be a common theme that doctors will not tell you what progression may look like. When you've only seen them the once, it's because they don't know- they need to see you a few times to see how you are doing before they can figure out what may happen next.

 

[KimT]

Thanks for including that summary on the report.

I asked because I've only ever known the MRI to come back clear, giving an indication that it is not something else, and other tests like the EMG to not be clear and show indications of ALS.

Do any of our senior members know about these spots showing on an MRI being common or indicative of ALS? I'm not disputing you at all, I'm really interested because it's the first time I've come across this myself. I'm not a health professional, so I sure don't feel I know everything. I know a lot about the presentation and progression type that my husband had, which was bulbar with FTD.

I found this study:
Magnetic Resonance Imaging in Amyotrophic Lateral Sclerosis

Had never heard of it.