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mkboreson

Active member
Joined
Apr 17, 2015
Messages
66
Reason
Learn about ALS
Diagnosis
04/2015
Country
Uni
State
Colorado
City
Pueblo West
Hello all....
My husband of 5 years and partner of 10 was diagnosed yesterday at UCH in Denver. We are in utter shock right now. We just had our third baby in January and our other children are 2.5 and 5. My husband is only 35 years old and he is crushed with this diagnosis. I guess my question centers around "how" he was diagnosed. I know there is no real test to definitively confirm ALS, but wow, how it was went about yesterday was awful.

Our back story, about 18 months ago, he started noticing that his hands having some basic weakness or aching in his knuckles, especially. We went to Mexico in Feb. 2014 for a wedding and he came back physically sick from there. He couldn't walk and was so sick, I took him to the Urgent Care, ER and his PCP within a week. He was diagnosed with Vertigo at Urgent Care and given shots. That didn't help and he was diagnosed with an inner ear infection at the ER and his CT scan of the head came back clear. His PCP told us it was a viral infection from Mexico that his body was having trouble fighting and she put him on a z-pack and antihistamines. I feel this is CRITICAL to when his symptoms started worsening. His hands, could have been arthritis up to this point, in my opinion. After that, he never felt right. He went back to his PCP and she sent him for an EMG, which came back clear. That was June 2014. He went to see a surgeon about carpal tunnel in July, which was ruled out. In the meantime, he started having continual spasms, which increased after the EMG. Nothing got better and she kept suggesting he had Anxiety and to take Symbalta. He never did. In October she sent him for an MRI to rule out a pinched nerve. That came back clear. In November, he went to help break up a fight at school (he's a teacher) and he said he felt a "fight or flight" sensation in his legs. He said they haven't really been the same since. He switched PCP's in December and his new doc ran blood work, which came back with elevated CK levels. He went back for a recheck, a week later, and they were within normal range. In late December, early January his speech starting to be noticeably slurred. He went for another EMG in March, which again came back normal. We tried to get in to see a neurologist in our hometown, but it was going to take 8 weeks. Over Easter weekend, he was admitted to the hospital because he fell twice in one day and I dragged him in. CT's, MRI (with and without contrast), blood work, EEG all came back normal. We were referred to Univ. of Colorado Hospital and that's where we got the diagnosis.

My question is, and I realize this is part of my grieving process, could it be something else? I was a little taken aback by the way he told us yesterday and how he is "fairly certain" it is ALS, but unwilling to entertain the thought that it could be something else. I have scoured the internet and found things like Isaac's Syndrome and MMN, that it "could" be, but he was unwilling to listen. He visited with us for a while, did a neurological exam and then came in and told him he has ALS. How were your significant others/your individual diagnosis gone about? I want to seek a second opinion, possibly at the Mayo Clinic or somewhere back East, but my husband is afraid that this doctor will refuse to treat us if we go have someone else take a look. Also, going back to the initial diagnosis of anxiety, could he have worked himself up so much that his symptoms might be mimicking ALS? I know that we are grasping at straws, but as I sat with my 2 month daughter on my lap, watching the strongest man I know be crushed, I don't know how we can't be in search of a different answer. Any insight, thoughts or prayers are greatly appreciated. If nothing else, thank you for reading.

The Boreson's
 
The diagnosis is generally made because of findings on clinical exam and on the EMG. Did he just have one? And was it after that he got the diagnosis. All the other tests are to exclude something else. Should you get a second opinion? Yes it is pretty common to do so. Is this last doctor a neuromuscular specialist? That is where you should end up. But no doctor should be insulted at seeking a second opinion. My sister had 3 even with family history. Anxiety is not going to cause EMG changes. It might cause hyperreflexes but no one would make an ALS diagnosis based on that alone. There are some blood tests that are probably not back yet. That may be why the doctor said fairly certain.
You asked for diagnostic anecdotes. Both my sister and I , for different reasons, had an intensive round of tests ending with the emg and diagnosis. Both of us had some blood tests that took longer just to make sure nothing else but they were all negative.
I am so terribly sorry you are facing this. When you can read the stickies especially newly diagnosed. Remember there is a lot of life after diagnosis and slow progressors diagnosed today may see some better treatments according to my neuro
 
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Thank you, Nikki. We are just so shocked. He feels, deep down, that the diagnosis is incorrect, but I don't know if that is a coping mechanism or his intuition. He has felt from the beginning that it isn't something fatal. Again, whether or not he is telling me that to ease my fears, I do not know. We did see a neuromuscular specialist. He didn't draw any blood, and to my knowledge he didn't even look at his medical records. He has had the two previous EMG's which were normal, and then he had another one yesterday. The neurologist that did it said there were some small abnormalities that could be an indicator for ALS, but also weren't a sure diagnosis. We go back in 3-4 weeks to meet with his team of specialists. I was just so taken aback. I'm hoping and praying that they start with worst case scenario and work backwards. I asked about Isaac's Syndrome and he immediately said no, because it is too rare. ALS is also rare? Thank you for your answer on the Anxiety. Again, I know we are grasping at straws, but we have to have some hope. He put him on Baclofen to stop his cramping and twitching. What are diagnostic anecdotes?
 
When I said diagnostic anecdotes I was speaking of your request for stories of diagnosis. It is not a secret phrase! Lol
If the EMG was not definitely diagnostic it sounds reasonable to hope. I think in your shoes I would keep the upcoming appointments while seeking a second opinion. Generally it takes a while to get those appointments. Where you go depends on insurance and ability willingness to travel. I think we have a couple of Colorado members hopefully they will chime in
 
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Okay! Thank you for clearing that up. I wasn't sure, lol. We are planning on it. I sent a request to the Mayo Clinic today and I am looking into ALS Neurologists in Boston or Houston. My husband is worried about the expense, but that should be the least of our concerns right now. Where are you located Nikki? Do you have any suggestions on where to do? Thanks again for all your responses. I am hopeful, but terrified.
 
Well I go to Mass General in Boston. I think it is fabulous and people come from all over the world. it is local for me but my sister flies in for care there too. Dr Appel in Texas is someone Max swears by. They have a fairly standard three day workup I believe
 
UCH in Denver was my 2nd opinion source.
Doc Ringel is their 'gray beard' ALS expert.
 
Hi Boresons,

Your story has hope. Frankly, I didn't see ALS in your symptoms, especially the EMGs. But if the doctor said ALS, perhaps he saw something you're not seeing.

Definitely get a second opinion. This is routine. In fact, every doctor would expect you to get a second opinion when your dealing with a terminal diagnosis.

My anecdote: My wife was perfectly healthy, happy and athletic. In fact, she was literally doing cartwheels at the gym. One day in November she tripped and fell over. Her foot didn't move properly to catch her. She immediately saw an experienced neurologist, who saw her "footdrop" and noted that her foot muscle was limp and useless--paralyzed. So they did an EMG and MRI and many blood tests. All the tests came back negative, showing no disease process, except the EMG showed active denervation, so he diagnosed ALS in December.

Indeed, my Krissy needed a cane to walk in January, a rollator in February, and she was in a wheelchair by March. Her's was an unusually rapid progression and she died in August.

That's our story. Your story, frankly, doesn't sound like ALS. But maybe it is. If I were you I would spare no expense and immediately get a second opinion from a specialist.
 
I always recommend Dr Kevin Boylan at the Jacksonville, Florida Mayo Clinic.
 
Thanks, Nikki! I am checking into Mass General. Also, thanks for the message. I can't figure out how to respond back through message, so I'll let you know I got it through here.
 
GregK - Dr. Ringel is who we saw. We liked him, but I just want to make sure. We are from Pueblo.
 
Atsugi,
Thank you so much for your reply. That you for also sharing your story about your beautiful wife. I am 100% on board with making sure we exhaust every option available to us. Thank you also for your recommendation of Dr. Boylan. I will look into him.

Kelli
 
With a "viral" infection as a precursor (which makes a Z pack sound like a poorly-chosen placebo), CIDP and MG should be explored, for starters. Azithromycin can cause/ exacerbate symptoms such as you report, as can viral infections. Perhaps they have been. If you want to share more of the EMG report, that might be helpful, e.g. was there evidence of peripheral neuropathy, NMJ dysfunction and/or demyelination.

The previous two EMGs' being "normal" doesn't fit well w/ symptomatic ALS as Atsugi points out, but are remotely possible esp. if the examiner was not MND-savvy. I would also have expected blood work for immune-mediated disease markers also, and some MG-related antibodies. Perhaps these were done.

All in all, though we would all like to believe that a referral center like UCH would not say "ALS" unless they meant it, and it sounds like others here have seen the doc you guys did, for me, there would be enough room to seek another opinion based on what you have presented here. Here is a map of ALS centers.
 
leglb,
I have copies of the previous EMGs, so I will take a look and see what they say, in reference to periphal neuropathy, NMJ Dysfuncton and/or demyelination. I too, was expecting, and have been expecting, more in depth blood work. I need to make a list of things that we demand he be tested for. We go back to see his PCP in May. We've tried to get into an Infectious Disease doctor, but everyone has refused to see us, based on his symptoms. I don't want to knock UCH, as we felt very welcomed there and I know that if it is indeed ALS, that is where we will most likely be going for treatment. I was/am just frustrated by the lack of willingness to test for other things. I have brought up Lyme Disease and everyone discounts it because he didn't have a rash. I read today that 30% of the time there is no rash present? It's just very frustrating. Thank you all for your wonderful advice and insight. I am feeling much better about him and even if it is ALS, the support that is out there is amazing.

Kelli
 
I met a lady with Lyme disease, her symptoms were similar.
I believe that testing for Lyme in these cases is fairly standard; it was done for me.

As to 2nd opinions, any Doc that objects is a Doc you should never go back to.

... but I have to agree that a diagnosis of ALS is odd with a clean EMG.
 
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