Unread 07-01-2011, 10:14 AM #1 (permalink)
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Post Misdiagnosed with ALS

I just wanted to share my story for what itís worth; Iíll try to give you the abridged version because it took place over many years. I had many of the symptoms associated with ALS- muscle weakness with fasciculationís, diaphragm weakness, etc. I underwent a battery of tests ordered by my neurologist- blood, MRIs, EMGs, spinal tap, CAT scans etc. All came back negative and she eventually diagnosed me as presenting lower motor neuron presentation of ALS. I was prescribed Ritulek and some other meds I donít remember. As the enlightened group you all are I donít have to tell you how it felt to receive such news. I was a 38 year old dad with two young children so the first thing I did was record tape after tape of me for them to view when they got older- I didnít want to be remembered by faded photographs but I digress.

Maybe it was out of denial or blind hope but I decided to seek a second opinion or at least the guidance of a well known and highly regarded ALS doctor/researcher at Mass General. My diagnosing neuro warned me that he probably wasnít accepting new patients but I was undeterred. I did manage to get an appointment with him and was immediately impressed with his genuine compassion, where my diagnosing neuro was a cold just the facts type of MD the MGH doctor seemed 10x more caring and attentive. He looked over my med records and performed an exam where I had to offer varying resistance to different muscle groups and joints. While he did not necessarily disagree with my ALS diagnosis, he was not willing to Ďsign offí on it based on what he saw. For the next year and a half of 6 month appointments it went that way with the examsÖat one point I remember he drew six inch a line on a piece of paper with two dots on each end. He stated here is an average person on this left dot and the right dot represents someone with ALSÖyou are right here as he made a mark about one millimeter away from the ďALS dotĒ.

Then one appointment something changed, my hip muscle that had always given in to resistance was a tad bit stronger for some reason. He perked up and said that never happens with ALS and openly wondered if I had something called Acid Maltase Deficiency (also known as Pompe Disease) which can mimic some of the ALS symptoms. At one point I had a muscle biopsy at Brig & Wms (donít recall why I had it done there) but it didnít show Pompe- the performing B&W doc said it was 50/50 whether I had ALS. The MGH doc was undeterred and eventually ordered a skin biopsy which confirmed the Pompe Disease diagnosis about 6 weeks later.

Iíll say up front that Pompe Disease is pretty nasty but itís no comparison to ALS. Itís now nine years later and Iím still here albeit a bit disabled. The point of this post is to illustrate that even one of the worldís leading ALS doctors/researchers had great difficulty with my final diagnosis. Please listen to the words of wisdom from the longtime posters here; you canít diagnose yourself over the internet. The mental anguish of ignorance is torture in and of itself. If this helps one person Iíll be happyÖthanks for reading.
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Unread 07-01-2011, 10:27 AM #2 (permalink)
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Default Re: Misdiagnosed with ALS

Great post - highlights that ALS is extremely difficult to diagnose, even by expert specialists; also it's extremely rare - although you wouldn't think so by the number of people who come here via Google. Even if a specialist tells you you have ALS, there's still a reasonable chance you don't. That specialist has probably 14 years of med school and at least 10 years in the field. This means he/she is light years ahead of you. Conclusion - self diagnosis via internet is for mugs - if you think you have a problem get some professional help - and then question everything you are told
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Unread 07-01-2011, 12:46 PM #3 (permalink)
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Default Re: Misdiagnosed with ALS

SJB50,
A million thanks for sharing your story. You have given me hope in many ways-- I am being treated through BWH (went from MS Specialist now onto a neuromuscular in a few wks). Like you were, I am almost 36 with two young kids. I was thinking of going out to buy the flip camera thing soon (that's my state of mind)... Thank you for reinforcing we can not diagnose ourselves whether it be through reading online or talking with forum members. We can only offer each other support and words of encouragement.
GT
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Unread 07-01-2011, 03:14 PM #4 (permalink)
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SJB50,
A million thanks for sharing your story. You have given me hope in many ways-- I am being treated through BWH (went from MS Specialist now onto a neuromuscular in a few wks). Like you were, I am almost 36 with two young kids. I was thinking of going out to buy the flip camera thing soon (that's my state of mind)... Thank you for reinforcing we can not diagnose ourselves whether it be through reading online or talking with forum members. We can only offer each other support and words of encouragement.
GT
One of the MDs I saw at B&W was Dr. Amato- I highly recommend him. On a side note making tnose tapes for my kids was, in hindsight, awesome therapy. With the ALS diagnosis at the time it was the only way I could fight back against "it". Take my word for it the first tape will be tough but I literally made dozens covering everything from life lessons I thought they could use to telling them stories about my youth. One common theme was that I always reassured them that I knew they loved me and that I never gave up and fought like hell to beat "it".

I felt like a millions pounds had been lifted from my shoulders after I made each tape, sure the feeling only lasted so long but knowing I was doing something for my kids in the future, however incremental felt great.

I strongly recommend that everyone regardless of their health make similar tapes because tomorrow isn't guaranteed for any of us, even the healthiest among us get hit by buses. The way I look at it is that most of us have Life Insurance to financially take care of our family, my tapes were kind of a Legacy Insurance...if that makes any sense. I still have them.
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Unread 07-01-2011, 05:16 PM #5 (permalink)
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Default Re: Misdiagnosed with ALS

The thing in your first diagnosis that confuses me is that you were diagnosed with LMN presentation ALS with CLEAN EMGs. Glad you got a different ultimate diagnosis and are still around to tell your story.
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Unread 07-01-2011, 05:52 PM #6 (permalink)
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Default Re: Misdiagnosed with ALS

SJB50,
I was recommended to see Dr. Amato, and asked for him, but I needed to get in sooner than later so ended up with one of his colleagues. I love your perspective on making the tapes, "Legacy Insurance"... I had started writing journal letters to each of my kids many months ago as a way for therapy myself, in dealing with the onset of symptoms. Thank you again for your words today. GT
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Unread 07-01-2011, 09:52 PM #7 (permalink)
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Default Re: Misdiagnosed with ALS

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The thing in your first diagnosis that confuses me is that you were diagnosed with LMN presentation ALS with CLEAN EMGs. Glad you got a different ultimate diagnosis and are still around to tell your story.
You may be right about the EMG observation, I do remember her zapping me in the legs immediately feeling fasciculations. To this day I don't know if that meant anything but now that you metion it I do remember that her demeanor got kind of glum afterward although she never came out at that time and said what the results were. I have literally been through (and continue to undergo) hundreds of tests over the years so my memory isn't the greatest.
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Unread 07-02-2011, 01:59 AM #8 (permalink)
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Default Re: Misdiagnosed with ALS

Wow--all that time having you terrified--and according to the NINDS it could have been diagnosed with 100% accuracy with a blood test! I hope they also told you that it was a genetic condition and that genetic testing is recommended for all family members.

From the NINDS (National Institute of Neurological Diseases and Stroke)

A diagnosis of Pompe disease can be confirmed by screening for the common genetic mutations or measuring the level of GAA enzyme activity in a blood sample -- a test that has 100 percent accuracy. Once Pompe disease is diagnosed, testing of all family members and consultation with a professional geneticist is recommended. Carriers are most reliably identified via genetic mutation analysis.

You're right, it does sound nasty, too But apparently adult onset is much better than juvenile. I wish you the best!
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Unread 07-02-2011, 08:56 AM #9 (permalink)
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Wow--all that time having you terrified--and according to the NINDS it could have been diagnosed with 100% accuracy with a blood test! I hope they also told you that it was a genetic condition and that genetic testing is recommended for all family members.

From the NINDS (National Institute of Neurological Diseases and Stroke)

A diagnosis of Pompe disease can be confirmed by screening for the common genetic mutations or measuring the level of GAA enzyme activity in a blood sample -- a test that has 100 percent accuracy. Once Pompe disease is diagnosed, testing of all family members and consultation with a professional geneticist is recommended. Carriers are most reliably identified via genetic mutation analysis.

You're right, it does sound nasty, too But apparently adult onset is much better than juvenile. I wish you the best!
At the time of my symptoms approximately 9 years ago the Pompe blood test was not in use from what I understand. Back then there was debate whether a muscle or skin biopsy was the way to diagnose, I had both but only the skin biopsy revealed it. Pompe is rare, I believe I'm only one of a dozen people or so who have it in MA.
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Unread 07-03-2011, 12:39 AM #10 (permalink)
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Default Re: Misdiagnosed with ALS

Thanks for your post. It's so encouraging to hear someone didn't have ALS. I hope that will be my story too. My progression is atypical and very slow so I'm hoping its something cureable. So far I've just been diagnosed with monoclonal gammopathy and possible lyme disease,
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Unread 07-03-2011, 05:21 PM #11 (permalink)
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Default Re: Misdiagnosed with ALS

Thank you so much for taking the time to post this. It sheds light on how complicated the diagnostic process truly is.

I too have an atypical progression, and even though its not been enough to get me an un-diagnosis, its your type of post that gives me hope that something else could still turn up.

I hope you're able to live a happy life with your family. Your little ones surely know they have a wonderful dad!
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Unread 07-09-2011, 07:08 PM #12 (permalink)
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Default Re: Misdiagnosed with ALS

Wow! I can understand the mental anguish! I was misdiagnosed with MS! But, this is not about me that I come here...my husband has been diagnosed with ALS! I pray for a misdiagnosis! And, because misdiagnosis happened to me, I know it is possible! It certainly takes its toll not knowing, finding out differently, ... just the confusion! Thank you for posting! As others have said, it just confirms how complex this ALS thing is, how difficult it is to diagnose, and the multitude of emotions that go with it all.

After I found out that I didn't have MS (which is also difficult to diagnose) I felt that doctors should be required to tell you that it is LIKELY you have MS! And, I feel that way about ALS.

God Bless you and Wishes for a long, happy, life with continued good health!
Blessings!
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