Evenrude
Member
- Joined
- Apr 12, 2017
- 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.
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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