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Evenrude

Member
Joined
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Messages
11
Reason
CALS
Diagnosis
03/2017
Country
US
State
Nebraska
City
York
I want to start by saying what a great group this is for someone like us. I have been reading these boards for awhile and find it remarkable how knowledgeable and caring the users are. For that I thank you. This is my first time posting, and I tend to get a little long winded at times, so forgive me. Also, I hope I am putting this in the right forum.

About a year ago we noticed my wife Susan (age 41) was getting somewhat clumsy while we were getting ready for our son's graduation party, but we didn't think too much of it. Last October she was unable to fasten her bra, and could not carry as many plates as she was used to. On Jan 1st she had trouble cutting her own steak. On Jan 8th, she finally went to the Dr after having a major pain in her neck/back area.

The Dr ran several labs (all showed inflammation) and did an MRI of her neck and brain. They immediately identified a ruptured disc in her neck and recommended surgery right away. The Neurosurgeon did a quick exam and decided that several of her symptoms (hand and bicep weakness, fasciculations, etc.) did not correlate with the location of the ruptured disc, and referred us to a neurologist.

The neurologist ran the full gamut of tests: EMG, additional MRIs, lumbar puncture, mylograms, and additional labs. He said she has some autoimmune markers in her lab work, but referred us to his colleague who specializes in muscle disease. When she was seen by the new neurologist he said that he "was not sure" but that "he suspected it could be MND, and possibly ALS" The EMG, physical exam and hyper-reflexes were the main reasons for his thoughts.

We were (are?) very scared and asked for a referral to the Mayo Clinic in Rochester, MN. The trip to Mayo was not the extensive, fact checking, team of super doctors we had envisioned. They did another partial EMG and ran a ton of new labs, and despite several of the labs being "off" we left with the diagnosis of "probable ALS".

Meanwhile, back at our local Neurologist we were approved by insurance to proceed with IVIG treatments. The hope being that they will show improvement and that her symptoms can be contained or corrected by autoimmune treatments and/or fixing the disc issues in her neck. We are currently on week three of IVIG treatments... and results are still inconclusive. She has opened a soda bottle on her own a few days ago (something she hadn't done for weeks), but also has days where things appear to be going the wrong direction. The side affects of the treatments are pretty major also, making her feel like she has the flu on about 50% of days.

Anyhow, I wanted to post our story to get some advice, and to vent a bit with people that have been through this stage.... of hoping for the best but preparing for the worst. We are one year away from having our last child off to college and had/have so many things left to do. I am currently holding out hope that we find something else, or that she progresses at a slow enough rate to hold on till a cure is found.

She tells me I am in denial, but I feel there is enough atypical things about her situation to keep pushing for other diagnosis. Currently her left arm is at about 15-20% and her right arm is at about 50%. Her speech, breathing, core muscles, and legs are all not noticeably effected. Her blood tests have consistently shown high inflammation markers, and one in particular shows as positive for scleroderma. Her radiology reports show a major ruptured disc at C6-C7, several bulging discs, and some degenerative signs. My HOPE is that the pressure on her spinal chord may be causing some of the symptoms, while something like Multifocal motor neuropathy, Chronic inflammatory demyelinating polyneuropathy, or even a connective tissue disease is causing the others. She also is experiencing acute pain from time to time that doesn't typically appear in early stage ALS (from my limited knowledge)

As we are completing the IVIG treatments, our local Dr is setting us up with referrals to a rheumatologist to investigate the autoimmune angle, and a new neurologist at UNMC in Omaha to look at her neck issues. Are there any other avenues I need to look into? Am I wrong to look under every rock for a better answer?

Edit: Full diagnosis below
DIAGNOSES
#1 Motor neuron disease, probable ALS
#2 Dysarthria, slight, secondary to No.1
#3 C6-C7 disc protrusion

The dysarthria is not true. My wife has always talked in a slurred way when tired or stressed.
 
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WendyWooG

Senior member
Joined
Jan 10, 2016
Messages
518
Reason
PALS
Diagnosis
07/2016
Country
Uk
State
Hertfordshire
City
Stevenage
You are not wrong to look under every rock, just listen to and trust your doctors. It's really good they are giving her a trial on the ivig and investigating all options.

I too trialled the ivig and had a really rotten reaction, I was alittle better with an alternative brand but still not wonderful. It would be worth talking to your neuro about trying an alternative to see if she has an easier time. There are subtle differences. Also keep fluids up it's really important and helps with the headache symptoms. My doctors prescribed steroids and antihistamines in fairly substantial doses to try to ease the joint pain and swellling.

In the meantime I am crossing fingers for you that it turns out to be something else.

Being in limbo and not being quite sure will be very hard, keep in close contact with neuro and your gp and make sure they get you help with physio and O.T even if you don't have a full diagnosis. Getting those referrals and getting equipment to help was difficult without a firm diagnosis. My GP was my hero in fighting my corner for me.

Good luck

Wendy
 

Jrzygrl

Senior member
Joined
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Messages
706
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Lost a loved one
Diagnosis
08/2014
Country
US
State
NJ
City
X
We too went through multiple "it might be" diagnoses. All the above mentioned tests, some multiple times. Also had a muscle biopsy. Lab tests were all fairly normal, other than a (very ) high CK level.

My husband tried IVIG with no noticeable improvement. Plasma pheresis did no good either.

He only shows signs of lower motor neuron disease - no breathing or swallowing problems, good core strength - but his arms and legs are both significantly affected. The doctors are now saying that he has ALS with limb onset, and that it will in all probability progress to include upper motor neuron problems.

I hope you have a different outcome.
 

lgelb

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Joined
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Messages
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Nebraska, can you post the EMG report(s)?

Best,
Laurie
 

wshealey

Active member
Joined
Apr 9, 2015
Messages
39
Reason
PALS
Diagnosis
04/2015
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State
IN
City
Fishers
Sorry to welcome you here but glad you found the forums. There is a wealth of experience and knowledge to be found.

My path was very similar to your wife's. A neurologist sent me to a neurosurgeon after an MRI showed disc issues in my neck but the neurosurgeon disagree with that diagnosis and, after a clinical exam, referred me back to the neurologist for further blood work and an EMG. That EMG was enough to say possible ALS and was confirmed as probable through a second opinion with an ALS specialist.

On the outside chance, less than 3%, that it could be MMN, I also went through the IvIG treatment but showed no signs of improvement. The fact that your wife was able to remove the soda cap would give some hope that she is responding to the treatment. My hope is that is the case.

Please feel free to ask any questions and never stop turning over the rocks to see what is underneath.
 

Evenrude

Member
Joined
Apr 12, 2017
Messages
11
Reason
CALS
Diagnosis
03/2017
Country
US
State
Nebraska
City
York
Nebraska, can you post the EMG report(s)?

Best,
Laurie

I do not have the full EMG results available, but here is the synopsis.

EMG by local neurologist: "EMG did reveal active and chronic denervative findings throughout both upper extremities with no focal deficits within the thoracic paraspinals."

Thank you to everyone for the responses.
 

[email protected]

Distinguished member
Joined
Jan 3, 2016
Messages
296
Reason
PALS
Diagnosis
11/2015
Country
US
State
Iowa
City
Iowa City
FWIW, if you had an EMG done at Mayo you can get to it, I believe through their patron interface, though you may have to dig. I got mine somehow, though you may have to request it. Hope the diagnosis turns out wrong.

Ed
 

Evenrude

Member
Joined
Apr 12, 2017
Messages
11
Reason
CALS
Diagnosis
03/2017
Country
US
State
Nebraska
City
York
FWIW, if you had an EMG done at Mayo you can get to it, I believe through their patron interface, though you may have to dig. I got mine somehow, though you may have to request it. Hope the diagnosis turns out wrong.

Ed

I will get those and post them. Thanks!
 
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