srbrotherton
New member
- Joined
- Apr 5, 2016
- Messages
- 3
- Reason
- Learn about ALS
- Country
- Uni
- State
- MO
- City
- Highlandville
My journey began nearly 30 years ago, when I woke up one morning and couldn't walk. I previously had a bullseye tick bite, and assumed Lyme disease. Every test taken since has been negative. I had symptoms come and go for many years, with exhaustion, stiffness, and leg weakness being my main symptom. After a hip replacement two years ago, the hip healed wonderfully, but I never quite gained my energy back and walking became more difficult. At my 6 month ortho checkup, my doctor noticed severe thigh atrophy, and put me in PT. I kept getting weaker and weaker, after each PT visit, and would crash for days after, unable to walk. I knew something was seriously wrong. I went to a neuromuscular neurologist and she gasped when she saw my atrophied thighs. She immediately thought I either had Limb Girdle Muscular Dystrophy, or anterior horn cell/motor neuron disease, and she suspected the West Nile Virus may have been the cause.
I immediately had an EMG and DNA test. The EMG showed some problems, and 7 months later received the DNA results, stating they found a Calpain 3 mutation, but it was “Vous”, meaning they couldn't identify it and couldn't determine if it was pathogenic or not. I was then sent to Barnes/Jewish hospital in St. Louis to see an ALS specialist, and had a biopsy of my thigh. Before he saw the biopsy results, he stated he didn't think it was ALS, because I had not progressed much in the past 6 months. I told him it was my understanding that sometimes ALS doesn't progress quickly, and he confirmed that, so I was a little confused at his conflicted statements.
When my local neuro received the results of the biopsy, she called telling me she wants me in a power chair right away. She said the doctors in St. Louis were baffled, and she diagnosed me with an anterior horn cell disease/motor neuron disease, and said it is very similar to ALS. She explained that my muscles would never get better, and only worse. The muscle biopsy stated that there was denervation and reinnervation, many pyknotic nuclear clumps, with a “moth eaten” appearance in the muscle.
The St. Louis doctor called me and said he conferred with two other doctors and none of them had ever seen so many pyknotic nuclear clumps. He ordered tests for Myasthenia Gravis and that was later ruled out, and that was the last report I received from the St. Louis doctors. In the meantime, I've had a PT evaluation for a power chair and waiting for insurance approval for a Quantum with tilt and recline and hopefully approval for the iLevel feature. The physical therapist told me I have a very rare disease, and stated there isn't much information online about anterior horn cell disease. I asked him if this is considered ALS, and he hesitated and said they don't know yet. He said there are several diseases that fall under the heading and they don't know at this point what to call it, until I progress more. I was told that I only have lower motor neuron involvement, yet I've read some of the symptoms of upper motor neuron involvement, such as spasticity, fascitulations, etc. and I have many upper motor neuron symptoms also. I made an appointment with another neurologist at the local MDA clinic and she confirmed the diagnosis. Yet, I'm still somewhat confused by it.
I have recently sold my house to move closer to one of my daughters, so she can care for me when needed. We are building a small handicap accessible home close to her. While packing and moving, I was amazed how I was able to be as active as I was, even though it wasn't easy for me, I still did more than I was normally able to. The last few days, I'm back to the same symptoms, without much stamina, a lot of pain and exhaustion, and shortness of breath. This “coming and going” of symptoms is something I've noticed for a long time. While searching for answers a few days ago, I read that the denervation is what causes the major symptoms, and the reinnervation is what offers for energy and stamina. That suddenly made sense to me, to explain why sometimes it appears I'm almost normal, but it never lasts long. I've also noticed recently that several of my fingernails are curling downward at the end, and I became curious about that. I searched information about the reason, and saw that it can be a sign of lack of oxygen. I've never had a breathing problem, and had a sleep apnea test a few years ago, but I've noticed in the past 6 months or so, that I get out of breath very easily, from very little activity.
I apologize for such a long post, but I wanted to explain where I am in the process. Any ideas, thoughts, suggestions would be greatly appreciated, because there is so much that I don't understand. I'm curious if any of you have seen a muscle biopsy like I described, or if you know or understand exactly what it means. Anterior horn cell disease doesn't really tell me much, but I strongly suspect they believe it's ALS because they have mentioned it several times, telling me it's very much “like” ALS. Doctors offer such little information, or maybe they simply don't know.
I immediately had an EMG and DNA test. The EMG showed some problems, and 7 months later received the DNA results, stating they found a Calpain 3 mutation, but it was “Vous”, meaning they couldn't identify it and couldn't determine if it was pathogenic or not. I was then sent to Barnes/Jewish hospital in St. Louis to see an ALS specialist, and had a biopsy of my thigh. Before he saw the biopsy results, he stated he didn't think it was ALS, because I had not progressed much in the past 6 months. I told him it was my understanding that sometimes ALS doesn't progress quickly, and he confirmed that, so I was a little confused at his conflicted statements.
When my local neuro received the results of the biopsy, she called telling me she wants me in a power chair right away. She said the doctors in St. Louis were baffled, and she diagnosed me with an anterior horn cell disease/motor neuron disease, and said it is very similar to ALS. She explained that my muscles would never get better, and only worse. The muscle biopsy stated that there was denervation and reinnervation, many pyknotic nuclear clumps, with a “moth eaten” appearance in the muscle.
The St. Louis doctor called me and said he conferred with two other doctors and none of them had ever seen so many pyknotic nuclear clumps. He ordered tests for Myasthenia Gravis and that was later ruled out, and that was the last report I received from the St. Louis doctors. In the meantime, I've had a PT evaluation for a power chair and waiting for insurance approval for a Quantum with tilt and recline and hopefully approval for the iLevel feature. The physical therapist told me I have a very rare disease, and stated there isn't much information online about anterior horn cell disease. I asked him if this is considered ALS, and he hesitated and said they don't know yet. He said there are several diseases that fall under the heading and they don't know at this point what to call it, until I progress more. I was told that I only have lower motor neuron involvement, yet I've read some of the symptoms of upper motor neuron involvement, such as spasticity, fascitulations, etc. and I have many upper motor neuron symptoms also. I made an appointment with another neurologist at the local MDA clinic and she confirmed the diagnosis. Yet, I'm still somewhat confused by it.
I have recently sold my house to move closer to one of my daughters, so she can care for me when needed. We are building a small handicap accessible home close to her. While packing and moving, I was amazed how I was able to be as active as I was, even though it wasn't easy for me, I still did more than I was normally able to. The last few days, I'm back to the same symptoms, without much stamina, a lot of pain and exhaustion, and shortness of breath. This “coming and going” of symptoms is something I've noticed for a long time. While searching for answers a few days ago, I read that the denervation is what causes the major symptoms, and the reinnervation is what offers for energy and stamina. That suddenly made sense to me, to explain why sometimes it appears I'm almost normal, but it never lasts long. I've also noticed recently that several of my fingernails are curling downward at the end, and I became curious about that. I searched information about the reason, and saw that it can be a sign of lack of oxygen. I've never had a breathing problem, and had a sleep apnea test a few years ago, but I've noticed in the past 6 months or so, that I get out of breath very easily, from very little activity.
I apologize for such a long post, but I wanted to explain where I am in the process. Any ideas, thoughts, suggestions would be greatly appreciated, because there is so much that I don't understand. I'm curious if any of you have seen a muscle biopsy like I described, or if you know or understand exactly what it means. Anterior horn cell disease doesn't really tell me much, but I strongly suspect they believe it's ALS because they have mentioned it several times, telling me it's very much “like” ALS. Doctors offer such little information, or maybe they simply don't know.