The Diagnostic Process
I truly do not want this blog to be all and only about ALS. That is not my intention at all. We are nothing if not life-affirming people, and living our life together is our focus now. We do live that life with ALS. In my heart I feel like "we" were diagnosed, which I realize is a little dramatic. I am not the one looking at a 2-4 year average life expectancy, I am not the one losing strength in my body. Yet, at the same time like all serious illness the family, not just the patient lives with the condition. So I begin with this thing we live with, and how we got there. It's very long, and may be more technical in parts than is interesting to many but its part of our story.
In February, Brian had a fall on some steps. In the middle of the night at a hospital with his nephew, he was carrying a lot of stuff and tripped and fell. In typical Brian fashion, he downplayed the accident but he did begin to say that his knee hurt. As weeks went on, he would say his walk felt different. It did not look different to me but he said it felt different. Honestly, Brian has always "worked and played hard" so I was not really yelling "go to the Doctor". He never went when I said he should anyway. I recalled a time about four years ago he wiped out winter biking and hurt his shoulder. It took two months to heal and he never went in, but he was okay in the end. This was different though. I for one wondered why he fell on dry ground. I can fall over my own feet and have more than once. Brian is grace personified.
On April 2nd, after spending a great night at the Hilton, where my organization held their annual fundraiser, he came downstairs and showed me something that frightened me. He could not raise the toes on his left foot nearly as high as the toes on his right. Drop foot. He realized he needed to go to the Doctor. Good! I did look it up online. I saw it usually came from a nerve injury. That fit with the fall perfectly. Okay, it would all be alright... Yet it spooked me. I never really stopped being worried when I saw that, no matter who said what.
In a path you hear so often with this condition, Brian went first to the Family Practice MD, who said he needed a Podiatrist. The podiatrist said he needed an another specialist, maybe a surgeon. The surgeon said what I had said from the start, he needed a neurologist.
It is standard issue in drop foot that does not resolve in a month or so to run an EMG/NCS, a test of the muscles and nerves even when they are 95% sure it is an injury. For one thing, they want to see and confirm the nerve injury in the leg and an EMG is the test to do that. Surgery can also be needed to fix a nerve entrapment. The first Neurologist said it seemed very much like an injury, and might take a year and some serious PT to heal. So, we did not go into the test thinking bad things. Well, he did not but as I said something scared me.
On May 2nd, Brian had that EMG/NCS. It was obviously not good, but we were getting no details. Just to come in for an MRI about a week and a half later. An MRI of the brain, leg, spine... Then a follow up appointment scheduled for May 17th to "discuss the results". We would be doing that with the Neurologist who did the EMG, not the one Brian originally saw. I really feel at this point we deserved - and should have asked for more communication.
We went up North for three nights before the May 17th appointment and right after the MRI. I was trying to tell myself this would all be okay, but on vacation even I saw troubling things with Brian I kept attributing to the strain from the drop foot/injury. He was tiring way to fast, he was having way to many cramps... It was still a nice trip. I was just so sure my anxiety was somehow off the wall, it had to be nothing but an injury.
May 17th, that appointment to "discuss test results" was surreal. It was then that a real live MD actually said it was either a "auto immune condition" OR ALS. He asked if we knew what ALS was. He talked about it like you would talk about going out for drinks. I did know, Brian did not really. As it all turned out, he would not really understand what ALS was until our next appointment with this Dr three weeks later. That I think was merciful because it allowed us to have me freaking out silently while I kept a positive front for him. I am not one who believes you should always vomit up all of your feelings on your partner. It was far more important not to scare Brian. A spinal tap/Lumbar Puncture was ordered, along with blood tests for 15 different conditions and markers of conditions. An appointment was set for two weeks hence, that became three weeks to ensure all tests results were back for discussion.
This was where the diagnostic hell that is the process of find out you have ALS began in earnest for us. Hearing those words was life altering. I only managed not to lose it after ALS becoming a possibility by a mix of optimism, rationalization, and on occasion straight up denial. ALS has no definitive tests. It is a diagnosis of elimination - "it is ALS when it can't be anything else". The average length of time to get an ALS diagnosis is 10 months. That's because progressive muscular weakness, an EMG that shows both "chronic and active denervation" in at least three areas of the body, negative blood tests for other conditions, an MRI that does not explain the findings on the EMG, and in classic diagnostic criteria signs of damage to both upper and lower motor neurons is required for diagnosis. On occasion a muscle biopsy is ordered. All of this can take so long because these things can take a long time to present in one person, and even when they are presenting there is I think a hesitancy to "call it" with a lot of Doctors because the error rate is still fairly high. Ten -fifteen percent of people diagnosed with ALS turn out to have been misdiagnosed. That rate does drop to 2-5% when that Dx is made at a Certified ALS center, but that is still 100% to 300% higher than cancer misdiagnosis now in the 21st century. The process is "hurry up and wait". I also tend to think as one ALS patient put it "there is no urgency to see you because nothing much can be done for you". It will be a great day when a definitive test for ALS is developed and you don't spend months (or more) in the odd hell of limbo.
Even during those three weeks, we did manage to enjoy ourselves some. Our friend Marla come for ten days around Labor Day. We had a party at our place to kick off that weekend. It all felt good, was a distraction for sure.
When we did go back to the Doctor for those results on June 7th, we heard that the blood and spinal test and revealed nothing. This was actually very bad news, but the Dr. explained that we still did not meet the criteria for ALS. He even said there were "A few more things it could be" and that he wanted us to go to the U of M for a second opinion. He said some things here were not consistent with ALS and seemed to think it might be one of the more rare motor neuron conditions, or some weird thing usually found in Japanese people. My brain did sort of yelp "ALS in progress" but I stayed calm. One thing the Dr was consistent on was the drop foot (a common MS and ALS sign) WAS in Brian's case caused by the nerve injury, or at least the nerve was truly injured that controls the foot as had been confirmed on EMG. That was a genuine complexity in this situation, both for us and the Dr's from the start. So, for another week we held out hope. Brian did know by this time what ALS really was, but we were still in a position to hope for another diagnosis.
Really, all that changed on June 15th. I came home from work and Brian showed me something he could no longer do with his left hand that he easily did with his right hand. I knew then it was ALS, for sure. Because with all the technical babble, the final bit with ALS is you must have spreading clinical weakness to make that diagnosis. That weakness had clearly spread, and this was no injured nerve. It was a weak hand. I started to tell a few people that I knew on our appointment at the University of Minnesota on the 30th, we were going to get an ALS diagnosis. My heart was indeed very heavy, Brian again being more optimistic than I but starting to talk also like we did know what was happening now.
Honestly, in some respects our appointment at the U of M with Dr. David Walk, the Director of the ALS Center there was a relief. Yes you read that right. June 30th was our day of diagnosis, but it was not a wretched day. May 17th was a wretched day. June 15th was a very hard day. The day we were diagnosed was not. We knew at this point anyway, and no it was not easy to lose that last shred of hope it was "something else", but finally we had clarity. Dr. Walk spoke so kindly and gently to us. I will always, always remember that and I will thank him for it. The contrast between Dr. Walk and the previous Neurologist Brian saw was incredible. Note to that other guy: kindness matters, tact matters, and your own frustration at what medicine cannot yet do and does not yet know is not an excuse to tell people they may be terminal with all the care of making a lunch order. He has had two years in practice and is very young and life is probably too short not to forgive.
So, after spending most of our day at the clinic on June 30th and getting our answer, we celebrated my birthday with friends on July 1st. We went out and had brunch that weekend. We told family and friends. We enjoyed our weekend - yes we really did. We knew that right now, we were living rather than dying with ALS. We booked a vacation in September. We planned for the future some, but did not dwell in it. Today is truly the "present" that we have. Our friends and family were pretty awesome. We told people that weekend, and we tell people now that the main thing you can do is treat us like US. Keep being our friends and treating us, and particularly Brian like the people we are. We understand that some people will shy away in this process (please don't call it a journey, that drives me nuts for some reason!) and that's okay, go with love. Our appreciation for those who can continue to be friends, the ones who are not intimidated by what we deal with is boundless and will only become more so.
Brian is still here (and doing well thanks, able to do most things right now). We are still together. We are moving forward. Speaking of which we have a beautiful Saturday to enjoy today.
Next, I will write a once over of the "story of us".
In February, Brian had a fall on some steps. In the middle of the night at a hospital with his nephew, he was carrying a lot of stuff and tripped and fell. In typical Brian fashion, he downplayed the accident but he did begin to say that his knee hurt. As weeks went on, he would say his walk felt different. It did not look different to me but he said it felt different. Honestly, Brian has always "worked and played hard" so I was not really yelling "go to the Doctor". He never went when I said he should anyway. I recalled a time about four years ago he wiped out winter biking and hurt his shoulder. It took two months to heal and he never went in, but he was okay in the end. This was different though. I for one wondered why he fell on dry ground. I can fall over my own feet and have more than once. Brian is grace personified.
On April 2nd, after spending a great night at the Hilton, where my organization held their annual fundraiser, he came downstairs and showed me something that frightened me. He could not raise the toes on his left foot nearly as high as the toes on his right. Drop foot. He realized he needed to go to the Doctor. Good! I did look it up online. I saw it usually came from a nerve injury. That fit with the fall perfectly. Okay, it would all be alright... Yet it spooked me. I never really stopped being worried when I saw that, no matter who said what.
In a path you hear so often with this condition, Brian went first to the Family Practice MD, who said he needed a Podiatrist. The podiatrist said he needed an another specialist, maybe a surgeon. The surgeon said what I had said from the start, he needed a neurologist.
It is standard issue in drop foot that does not resolve in a month or so to run an EMG/NCS, a test of the muscles and nerves even when they are 95% sure it is an injury. For one thing, they want to see and confirm the nerve injury in the leg and an EMG is the test to do that. Surgery can also be needed to fix a nerve entrapment. The first Neurologist said it seemed very much like an injury, and might take a year and some serious PT to heal. So, we did not go into the test thinking bad things. Well, he did not but as I said something scared me.
On May 2nd, Brian had that EMG/NCS. It was obviously not good, but we were getting no details. Just to come in for an MRI about a week and a half later. An MRI of the brain, leg, spine... Then a follow up appointment scheduled for May 17th to "discuss the results". We would be doing that with the Neurologist who did the EMG, not the one Brian originally saw. I really feel at this point we deserved - and should have asked for more communication.
We went up North for three nights before the May 17th appointment and right after the MRI. I was trying to tell myself this would all be okay, but on vacation even I saw troubling things with Brian I kept attributing to the strain from the drop foot/injury. He was tiring way to fast, he was having way to many cramps... It was still a nice trip. I was just so sure my anxiety was somehow off the wall, it had to be nothing but an injury.
May 17th, that appointment to "discuss test results" was surreal. It was then that a real live MD actually said it was either a "auto immune condition" OR ALS. He asked if we knew what ALS was. He talked about it like you would talk about going out for drinks. I did know, Brian did not really. As it all turned out, he would not really understand what ALS was until our next appointment with this Dr three weeks later. That I think was merciful because it allowed us to have me freaking out silently while I kept a positive front for him. I am not one who believes you should always vomit up all of your feelings on your partner. It was far more important not to scare Brian. A spinal tap/Lumbar Puncture was ordered, along with blood tests for 15 different conditions and markers of conditions. An appointment was set for two weeks hence, that became three weeks to ensure all tests results were back for discussion.
This was where the diagnostic hell that is the process of find out you have ALS began in earnest for us. Hearing those words was life altering. I only managed not to lose it after ALS becoming a possibility by a mix of optimism, rationalization, and on occasion straight up denial. ALS has no definitive tests. It is a diagnosis of elimination - "it is ALS when it can't be anything else". The average length of time to get an ALS diagnosis is 10 months. That's because progressive muscular weakness, an EMG that shows both "chronic and active denervation" in at least three areas of the body, negative blood tests for other conditions, an MRI that does not explain the findings on the EMG, and in classic diagnostic criteria signs of damage to both upper and lower motor neurons is required for diagnosis. On occasion a muscle biopsy is ordered. All of this can take so long because these things can take a long time to present in one person, and even when they are presenting there is I think a hesitancy to "call it" with a lot of Doctors because the error rate is still fairly high. Ten -fifteen percent of people diagnosed with ALS turn out to have been misdiagnosed. That rate does drop to 2-5% when that Dx is made at a Certified ALS center, but that is still 100% to 300% higher than cancer misdiagnosis now in the 21st century. The process is "hurry up and wait". I also tend to think as one ALS patient put it "there is no urgency to see you because nothing much can be done for you". It will be a great day when a definitive test for ALS is developed and you don't spend months (or more) in the odd hell of limbo.
Even during those three weeks, we did manage to enjoy ourselves some. Our friend Marla come for ten days around Labor Day. We had a party at our place to kick off that weekend. It all felt good, was a distraction for sure.
When we did go back to the Doctor for those results on June 7th, we heard that the blood and spinal test and revealed nothing. This was actually very bad news, but the Dr. explained that we still did not meet the criteria for ALS. He even said there were "A few more things it could be" and that he wanted us to go to the U of M for a second opinion. He said some things here were not consistent with ALS and seemed to think it might be one of the more rare motor neuron conditions, or some weird thing usually found in Japanese people. My brain did sort of yelp "ALS in progress" but I stayed calm. One thing the Dr was consistent on was the drop foot (a common MS and ALS sign) WAS in Brian's case caused by the nerve injury, or at least the nerve was truly injured that controls the foot as had been confirmed on EMG. That was a genuine complexity in this situation, both for us and the Dr's from the start. So, for another week we held out hope. Brian did know by this time what ALS really was, but we were still in a position to hope for another diagnosis.
Really, all that changed on June 15th. I came home from work and Brian showed me something he could no longer do with his left hand that he easily did with his right hand. I knew then it was ALS, for sure. Because with all the technical babble, the final bit with ALS is you must have spreading clinical weakness to make that diagnosis. That weakness had clearly spread, and this was no injured nerve. It was a weak hand. I started to tell a few people that I knew on our appointment at the University of Minnesota on the 30th, we were going to get an ALS diagnosis. My heart was indeed very heavy, Brian again being more optimistic than I but starting to talk also like we did know what was happening now.
Honestly, in some respects our appointment at the U of M with Dr. David Walk, the Director of the ALS Center there was a relief. Yes you read that right. June 30th was our day of diagnosis, but it was not a wretched day. May 17th was a wretched day. June 15th was a very hard day. The day we were diagnosed was not. We knew at this point anyway, and no it was not easy to lose that last shred of hope it was "something else", but finally we had clarity. Dr. Walk spoke so kindly and gently to us. I will always, always remember that and I will thank him for it. The contrast between Dr. Walk and the previous Neurologist Brian saw was incredible. Note to that other guy: kindness matters, tact matters, and your own frustration at what medicine cannot yet do and does not yet know is not an excuse to tell people they may be terminal with all the care of making a lunch order. He has had two years in practice and is very young and life is probably too short not to forgive.
So, after spending most of our day at the clinic on June 30th and getting our answer, we celebrated my birthday with friends on July 1st. We went out and had brunch that weekend. We told family and friends. We enjoyed our weekend - yes we really did. We knew that right now, we were living rather than dying with ALS. We booked a vacation in September. We planned for the future some, but did not dwell in it. Today is truly the "present" that we have. Our friends and family were pretty awesome. We told people that weekend, and we tell people now that the main thing you can do is treat us like US. Keep being our friends and treating us, and particularly Brian like the people we are. We understand that some people will shy away in this process (please don't call it a journey, that drives me nuts for some reason!) and that's okay, go with love. Our appreciation for those who can continue to be friends, the ones who are not intimidated by what we deal with is boundless and will only become more so.
Brian is still here (and doing well thanks, able to do most things right now). We are still together. We are moving forward. Speaking of which we have a beautiful Saturday to enjoy today.
Next, I will write a once over of the "story of us".
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