Rushed ALS Diagnosis ??

[Motyl]

First off, my heart goes out to all of you. You are so incredibly brave and generous with sharing your time, experience and support.

My husband walked into a neurologist's office with symmetrical muscle weakness and walked out with a diagnosis of ALS.

Some background -

My husband is 51 and quite healthy. Only concerning family history is that his father had a brain aneurysm. He was concerned that it could be hereditary, which is what lead him to a neurologist.

2 months ago, he started experiencing a significant amount of stress due to various reasons - our dog was dying and he was his primary caretaker while working from home, a close family member was diagnosed with cancer, and my work hours were crazy.

In the midst of all that, one day, he started noticing weakness in both upper arms and both front upper legs, in his quads, on and off. He described it as feeling "rubbery". This comes and goes.

The weakness has always been symmetrical.

He also describes as feeling "jittery". This comes and goes, some days are better, some days are worse.

He also finds himself having twitches while trying to fall asleep. This doesn't happen every night. I noticed when he was his most stressed, I can actually feel the jerk while next to him.

During this time, he also developed GI problems, most likely due to stress. He has an endoscopy and colonoscopy scheduled.

In the meantime, he was able to get in with a neurologist right away. The neurologist did a simple physical test and had us come back for an EMG and NCS. He spent an extensive time testing and after an hour and half, he calls us both in and tells us that my husband has ALS and we need to prepare for the worst.

We were both beyond shocked. I was standing when he told us and I almost fainted. I literally slumped to the ground. I asked him how he is so positive and he said that he sees severe nerve death all over his body (or something along those lines; it's all kind of a blur). I asked how can he be so sure - he said the machine doesn't lie and he trained under an ALS specialist so he knows ALS when he sees it. I told him I want a 2nd opinion and he said you are welcome to do that, but another doctor will tell you the same thing.

I demanded an MRI, which he wrote an order for. He rushed us out of the office saying because my husband's test took so long he's really behind and if we have more questions to ask at the next appointment. Other than to get his EMG and NCS results, we are never going back.

We are waiting to get in for the MRI but are in such shock and disbelief.

All of this fear and panic took me to search the internet. I feel so fortunate to have found this site!!

His symptoms are -

- Symmetrical weakness in his quads, that comes and goes. He can stand for hours (he has a sit/stand work desk) and no problem walking, bending, getting up, etc.; always both sides. He describes this weakness as feeling "rubbery".

- Symmetrical weakness in arms or shoulders, also comes and goes; always both sides. Also the "rubbery feeling".

- When he extends both arms in front of him and moves his arms toward the back (like doing a breast stroke), when he is in the middle of the movement, he feels weakness and his hands shake a little and once he pushes through, it goes away. Both arms.

- Jittery feeling

- GI issues - still hungry after eating, low blood sugar symptoms. He did notice that the other symptoms come on or get stronger when his GI issues flair up (muscle weakness and jittery feeling).

- He occasionally has a fever 99.5, a few times a week.

- He has been on Lamisil for over a month for a toe nail fungal infection. Some of the symptoms could be from candida die off (??)

None of the above symptoms affect his day to day life in terms of walking, getting up and down, yard work, etc.

And yes, we told the neurologist all of this and he said it's unrelated to the diagnosis.

Our MRI appointment is next week. I am sure many can identify with the fear we are going through. I can barely go a few hours without bursting into tears.

In the meantime, I wanted to reach out to ask the community's thoughts.

Also, I am looking for an expert to get a 2nd opinion. If anyone could make any recommendations for a neuromuscular disease specialist in Southern California, we would really appreciate it.

In gratitude,

Motyl

 

[KarenNWendyn]

Very definitely get a second opinion, and I would suggest a neuromuscular specialist. Try USC, UCLA or Cedars Sinai.

ALS does not present with symmetrical weakness in both arms and legs occurring over a 2 month period. That presentation to me is more consistent with an inflammatory myopathy such as polymyositis or dermatomyositis.

Evaluation should include tests for CK and Aldolase as well as ESR, ANA, CBC, chem panel, and urine. A chest X-ray is also indicated as occasionally malignancies will present with myopathy as a paraneoplastic syndrome.

Muscle biopsy is often diagnostic in the myopathies. EMG is usually abnormal but different from EMG in ALS.

I’m also surprised the neurologist you saw would diagnose ALS without ruling out disease mimics and also monitoring for progression.

 

[Motyl]

Thank you so much Karen! I really appreciate the list of additional tests we need to ask for. We only saw this doctor twice, over a 1 week period. He seemed very certain of "his" diagnosis.

We are very fortunate to be near such great hospitals and treatment centers. I will keep doing research to find the right specialist. Thank you again!

 

[Nikki J]

If you call the als clinic of your choice and tell them you were diagnosed with als by a community neuro they should give you an appointment.

If you don’t have insurance restrictions on where you go ,for what it is worth , I am told Cedars has the best opportunity for clinical trials The people I know in your area with ALS seem to go there or UCLA

 

[Lkaibel]

The bi lateral symptoms seem highly unusual for ALS. In this diagnosis you don’t want someone who “trained under” an ALS Specialist, you want first a neuromuscular Specialist and then a Certified ALS Center. Chronic and active denervation with short wave abnormalities on EMG are suggestive of ALS, but definitely not only ALS. That’s why they call it a diagnosis of elimination or “ It’s only ALS when it can’t be anything else”.

At this point as has been said, the best thing would be to go to a Certified ALS Center, and if that’s not possible right off do see another neuromuscular Specialist.

Thinking of you and hoping for the best.

 

[lgelb]

The Lamisil (terbinafine hydrochloride) he's on -- this is the tablets?

If so, were I your husband, I would discontinue it in consultation with whoever wrote it. It can cause muscle problems, GI issues, fatigue, etc. I'm not saying it's the whole story, but eliminating a possible exacerbating factor is often a strong consideration in situations like these.

A prescription nail lacquer, depending on the infection and your husband's health history, may be a substitute therapy for the fungal infection.

Best,
Laurie