Beginning diagnostic journey, pretty sure it is ALS, crippled with sadness and fear, general advice please

[Marnes77]

Hi everybody. Thanks in advance for taking the time to read this post. I have been reading this forum for a few days now, and am so impressed by it on many levels. From how well it is run to how informative and supportive it is. Kudos to all.

So, my partner (55, male, otherwise healthy and clean-living) has been experiencing the following symptoms for around a year now:

Upper arm weakness and what appears to be muscle wasting - lifting his arms above his head is growing more difficult

Left hand weakness and what appears to be muscle wasting - there appears to be marked thenar atrophy and he can't really grip anything anymore

Stiffness of left leg - he now walks slowly with a limp, sort of dragging his leg along

Increasingly widespread fasciculations

Fatigue

These symptoms are painless, progressive and increasingly debilitating. For example, he is almost constantly fatigued, his fine motor skills are now significantly impaired (now types with one hand, needs help with opening bottles, for example), running is impossible (even walking is growing more difficult), and he can no longer pursue hobbies he enjoyed regularly less than a year ago such as tennis and sailing (can still cycle). Fasciculations are also now increasingly widespread and frequent – confined occasionally to one arm several months ago, they are now constant across both arms and shoulders and I think I am beginning to feel them in his upper thighs now too when we are in bed at night. But I have not said this to him as I don't want to freak him out anymore than he already is.

It all seemed to start in a leg. Just sort of stopped working properly early last year. Last May, he really noticed it when he went to run for a bus and found that he simply couldn't run. Since then, tennis and any activity like that is now gone. He has been to the physio, acupuncture, etc. But things just seem to be advancing. Particular in the last month where it all seems to have accelerated quite markedly. Or perhaps this is just a result of me taking things more seriously. I really just thought it was wear and tear, a trapped nerve, etc. But now I realise this is potentially far more than that. Sort of a wake up call when I look at everything together and see him declining in front of my eyes.

His PCP recently ran bloods and ordered a cervical MRI. Bloods clear. MRI showed something, but frustratingly I wasn't privy to the conversation. Apparently some spinal compression and arthritis. A neurology referral was also made, but this went out with the MRI referral. We have another appointment with the PCP tomorrow to assess whether what he saw in the MRI corresponds with these symptoms and the neurology referral is more a precaution, or if the MRI was inconclusive and further, more specialist investigation is required.

I have done a lot of research and am 99.9% sure it's ALS. Obviously he needs to undergo testing and only a qualified medical specialist can confirm. But in people's experience with this illness, could anything less serious be causing these symptoms I have described above? Isaac's? MMN? Cervical myelopathy? Etc.

I am just trying to assess whether there is any room for hope here. But it looks very stark. I am finding this very hard to bear. The not knowing. But also the sinking feeling, horror and anticipatory grief of knowing in my heart of hearts that this is ALS. To be honest I am not functioning I am so terrified, shocked and sad etc. I am sure this is a familiar space to many of you. I need to get a grip though, becasue if it is ALS, I need to be very strong for him.

Any advice at all is welcome please. I am utterly distraught. I love this man dearly and the thought of losing him to such a cruel disease is too much to bear.

 

[Nikki J]

Hi sorry for what you are going through

could it be something else? Yes including mmn or cervical myelopathy and there are other things some quite rare.

are the symptoms concerning? Yes.

all you can really do for now is support him as he goes through the diagnostic process and focus on enjoying each day

prepare for every doctor visit so you both can get the most information each time

good luck and let us know what happens

 

[Marnes77]

Thank you Nikki. I will of course let you know. Wishing so hard here.

 

[Marnes77]

Hi everyone. As I suspected, the cervical MRI does not correspond to his symptoms. The PCP said the ship is pointing to ALS (or MND as it is referred to more in Ireland), and accordingly has referred us to an ALS specialist. She is a leader in the field and the facility she heads up is a European centre of excellence, so for this we are hugely grateful.

I understand that diagnosis is difficult, and that it's a process of elimination with much testing. But wondering if there is a general guide in terms of how long on average an ALS diagnosis should take from this point? If any of you could advise please, I'd be extremely grateful.

 

[Nikki J]

Orla Hardiman? Couldn’t be in better hands. Best of luck!

 

[KimT]

I would think an EMG that corresponds with a clinical exam could confirm. If the EMG doesn’t support the clinical exam, she might order more testing such as a lumbar puncture or even more extensive blood work that includes genetic testing.

Best wishes however it goes.

 

[Marnes77]

Yes! Prof Hardiman! Have heard amazing things. Lovely to get further reassurance here.

Thank you both. I will let you know how it goes.

 

[MupstateNY]

In terms of length of diagnosis -- I had read that from onset of symptoms, the average time to dx was something like 14 months. Also, from reading forum posts I learned that there is a wide variety of times to dx.

Then I read an article about the new diagnostic criteria for ALS, termed "Gold Coast." Apparently a different approach to dx was sought because people in the ALS community, including doctors, were frustrated that it was often taking so long to sort things out. As I understand it (this may be too simplistic), the new approach is, if you find that three different body regions are showing problems (with EMG and nerve conduction testing), and if alternative explanations of signs and symptoms are considered but rejected, then ALS is the conclusion. I was first told of a suspicion of ALS in July, and I was diagnosed four months later. The advantages of a faster evaluation process include the ability to plan ahead, the ability to take the right approach to exercising, and the ability to start the specialty meds earlier than with the old criteria.

I don't know what the new average (post-Gold Coast) is.

I was rather distressed when an EMG was first ordered that I would have to wait three months. I elected to drive two hours each way so I could get it sooner. (Back then I didn't even know what ALS was, but I figured, if I was going to have surgery to make my hand weakness better, I wanted it sooner rather than later.)

While I was undergoing evaluation, I started taking an SSRI. It was an anxious time. I can relate to your description. Frankly, at that time, my spouse went into full denial mode. He's more helpful currently. My older son just visited. He believes I have ALS, but he doesn't want to think about it, and strenuously defends his choice, and his right to be in denial!

Regards.

 

[Clearwater AL]

Mupstate, over the years, on this forum (Newly Diagnosed), we have had many who where diagnosed on
their first EMG within just a month or so of their initial Neuro visit. Their symptoms happened just a
month or two before before the initial visit. Yes, some may have taken 14 months but there have been
many PALS here happened much much sooner. And some with a second opinion shortly after.

Just a note...

 

[Nikki J]

To be clear Gold Coast did not change the criteria dramatically. What they did was change the confusing and frequently misinterpreted by patients ( and more than a few neurologists who should have known better) terminology. They took away possible and probable ALS which DID NOT mean the person might not have ALS but meant ALS in one or two regions. People die with those labels and people with probable qualified for virtually ever trial. Most with possible did. Gold Coast relabelled it all ALS ( much overdue). Diagnostic delay is more often the time it takes to get to the neuromuscular as there are often delays for pt, orthopedics etc before they ever get to any neurologist. Some people do not meet diagnostic criteria even when they first arrive at the neuromuscular

fortunately for the op and their relative Professor Hardiman is a world renowned ALS specialist who will be their best chance of a speedy diagnosis or rule out

 

[affected]

For us, the delay was purely getting to the right speciality as we were seeing ENT and Dental surgeons. The moment we saw a speech pathologist she nailed it, and a few weeks later were at an ALS specialist and diagnosed that day.
It was 6 months of Chris ignoring/denying symptoms before that, then 7-8 months of going to the wrong specialists and waiting 1 - 2 months for each appointment.
But in that time he had sold his business and was severely incapacitated as this is a progressive disease.

If the OP here sees a neuromuscular specialist they will have some answers at least on what direction this is heading pretty fast.

 

[Marnes77]

Thanks everyone. We will be seeing a top ALS specialist. So I imagine the diagnosis will be pretty quick. Her waiting list is admirably short, so hopefully we will get that initial referral ASAP.

But at this stage it is a case of hoping for the least worst (e.g. MMN), preparing for the worst. The ship is pointing firmly towards ALS.

Sending love and support to all of those affected by this horrible illness. It is too cruel. I thought I had problems before. This really gives perspective in the most devastating, profound and surreal of ways.

Thanks again to everyone who has responded to this thread. Your time and input is so hugely appreciated. I will keep you all informed.

 

[Marnes77]

Hi everyone. We have received our referral for this coming Thursday the 12th. Extremely grateful for this quick turnaround. We will know very soon. I know many of you have been here or are here in this unbearable place of uncertainty, anxiety and sorrow. While we personally have yet to receive an official diagnosis, I know what way the ship is pointing.

Nevertheless, come what may, I extend all my love and empathy to all of you in this place, or diagnosed, and either way, your loved ones. Other than serious illness of a child, or some terrible act of fate, this is as grim and challenging as it gets. But there is some strength and solace in this community. May we soldier through this cruel set of cards together, as friends we have never met. I don't know that I can ever make peace with this. I am sure many of you feel the same. But we must remain strong, as life goes on. Especially where children and/or bread-winning are factors. I have both responsibilities. Many of you do too. That is not to detract from anyone's personal set of circumstances. This is sorrowful and challenging no matter what. Huge hugs to you all now matter what, for what that is worth.

I will let you all know of our outcome, come what may.

Sending each of you so much love.

Thanks again to you all. Particularly Nikki J. I think we need a new acronym for you, my love. APALS. Where A stands for Angel.

Marnes77

 

[affected]

Thinking of you, that is a good result to get in so fast. I hope you get answers fast now.

 

[Nikki J]

I am glad you are being seen so quickly. Limbo is very hard. Will be thinking of you Thursday. Thank you for your kind words