I just wanted to share my story for what it’s worth; I’ll 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 fasciculation’s, 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 don’t remember. As the enlightened group you all are I don’t 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 didn’t 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 wasn’t 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 ‘sign off’ on it based on what he saw. For the next year and a half of 6 month appointments it went that way with the exams…at 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 ALS…you are right here as he made a mark about one millimeter away from the “ALS dot”.
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 (don’t recall why I had it done there) but it didn’t 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.
I’ll say up front that Pompe Disease is pretty nasty but it’s no comparison to ALS. It’s now nine years later and I’m still here albeit a bit disabled. The point of this post is to illustrate that even one of the world’s leading ALS doctors/researchers had great difficulty with my final diagnosis. Please listen to the words of wisdom from the longtime posters here; you can’t diagnose yourself over the internet. The mental anguish of ignorance is torture in and of itself. If this helps one person I’ll be happy…thanks for reading.
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 wasn’t 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 ‘sign off’ on it based on what he saw. For the next year and a half of 6 month appointments it went that way with the exams…at 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 ALS…you are right here as he made a mark about one millimeter away from the “ALS dot”.
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 (don’t recall why I had it done there) but it didn’t 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.
I’ll say up front that Pompe Disease is pretty nasty but it’s no comparison to ALS. It’s now nine years later and I’m still here albeit a bit disabled. The point of this post is to illustrate that even one of the world’s leading ALS doctors/researchers had great difficulty with my final diagnosis. Please listen to the words of wisdom from the longtime posters here; you can’t diagnose yourself over the internet. The mental anguish of ignorance is torture in and of itself. If this helps one person I’ll be happy…thanks for reading.