Newbie with some confusion

[srbrotherton]

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.

 

[sleepy]

I don't know either but it doesn't sound good - what's the next step? Wait and see how it develops? That must be hard. Who is overseeing your care?

 

[WendyWooG]

Hi welcome to the forum, so sorry you are in this situation.

When I had my first EMG I had been referred by my rheumatologist, the report for the EMG Doctor came back saying based on the result I had anterior horn cell disease. My rheumy and my GP had no idea what that was and I was referred urgently to a neurologist. My neurologist went through all my test results and told me I had motor neurone disease. He said that anterior horn cell is another name for spinal motor neurones. Confusing yeah! You would think they would stick to one name.

I too was presenting atypically with purely lower motor neurone symptoms, which led to them changing my diagnosis a differential one of MND/MMN and trialing Ivig treatment. The Ivig didn't work and recently I developed upper motor neurone symptoms so the diagnosis changed back to MND.

It's hard when the symptoms are not clear and being in limbo while the doctors sort things out is a difficult place to be. Best wishes

Wendy x

 

[srbrotherton]

At this point, no one is managing anything. My neurologist is dealing with a very serious disease herself and is out if the office much of the time. She just new she wanted me in a chair ASAP and I'm still waiting to hear about that. The St. Louis doctors just basically dropped everything after the negative Myasthenia Gravis testing. The MDA doctor did an exam and said she agreed with the findings and diagnosis. There was no mention of any treatment or need for them to see me again. I went through months of testing, stuck with more needles than I could count with multiple EMGs, repetitive EMG, and single fiber test. My neurologist said she won't put me through anymore testing, and I was glad to hear that. At this point, I assume I'm just left to discover the severity of the disease on my own. The coming and going of symptoms is challenging and confusing, and also not completely understanding what I have. I called an ALS chapter, hoping to get a recommendation to help me decide between two brands if power chairs, and to find a support group or information, and was told because they haven't stated that I have upper neuron involvement, I don't have ALS and they only accept people with certain criteria.

 

[lgelb]

Do you have the last EMG that you could post? Why a PT is talking re anterior horn dz prognosis generally when they are distinct is mystifying. ALS is an anterior horn (that describes the lower motor neurons in the spinal cord) dz, as is, for example, post-polio syndrome. (I take it you didn't have polio?) Some are inherited. Some wax and wane in terms of symptoms because they are viral like West Nile.

The muscle bx feature you describe (PNCs) is characteristic of a few disorders, primarily myopathies. The MDA chapter locally should therefore be in your corner and help you, regardless of dx confusion.

Honestly, it sounds like you haven't seen anyone real yet so I'd go to Chicago (Northwestern preferably or UC) or if need be. At least they can refer you back for care with a more definitive dx. Whatever test results you can post might help. Moreover, as for getting into a power chair, someone will have to code a diagnosis, and unspecified anterior horn dz might raise some payor eyebrows.

Best,
Laurie

 

[srbrotherton]

Thanks for your replay Laurie. I am in the middle of a move right now, and I am unable to pull some of the files up on my computer. I don't have copies of the latest EMGs. I'll see what I can pull out of my hard copies when I locate them and post them.

The DME and PT and Neuro all assured me that they know the proper coding for a chair and my diagnosis would assure it will go through, so that is all I have to go on. I am at the point that I'm totally tired of being so pro-active because none of them follow through on anything. I just called insurance this morning to see what the progress is of the authorization for the chair. The insurance still hasn't received the request! I had the PT evaluation 7 weeks ago! I was told 3 days later it was sent in. Then after checking on it 3 weeks ago, to see what the hold up is, I was told the doctor only received the paper work a week before, and she only had one more form to sign. Today, I discovered that it still hasn't been turned in to the insurance company, and she only signed the final report last week. I have no idea who is not following through, but I am constantly following up on things. The neuro in St. Louis asked ME what the muscle biopsy report said! Really?? I told him that his hospital did the biopsy and he should have the report, but he said he couldn't find it. He not only didn't have that, but he didn't have the DNA report that was sent to him, and also didn't have the spinal MRIs that he ordered. It was a totally wasted 8 hour trip for me up there and back, with him telling me I don't have ALS "because I hadn't progressed in the past 6 months". He told me to come back in 6 months, after not having access to any of my important files. He called the next day, almost in a panic once he found my biopsy report, telling me I needed to be tested for Myasthenia Gravis. Somedays, I feel like I'm dealing with the 3 Stooges in this medical world, and I'm the only sane one....

I believe, as you stated, that with all the testing, there should be a more definitive answer to what is going on. As far as polio.....When I first started PT, and I was able to be active with the exercises, after telling them to "push me" so I could build up my legs, I soon realized something was seriously wrong, because I wasn't able to function for days after the activity....I knew that years ago, and was blown off by every doctor I saw. They told me I had Fibromyalgia. After a neurologist called me with results of a brain MRI, after a bad fall, I told him I was even wondering if I had Post Polio Syndrome, because of my symptoms. Years ago, I had a friend with that, and she kept telling me I had the same symptoms she had. I was a polio pioneer back in the 50s and had the first series of the Salk vaccine. I complained of leg pain many times in my childhood, and my mother always worried that I might have polio, but I never became ill. So, when I told the neuro that I was suspecting Post Polio, he sent me to his wife, the neuromuscular neurologist. No tests have been done to rule that out, because she was so certain that it wasn't Post Polio, and thought it was anterior horn cell disease. I am well aware that Post Polio falls under that heading with several others MNDs.

No one has discussed the possiblity of any kind of treatment or even mentioned it to me. The MDA neurologist only said she agreed with the diagnosis, and nothing more was done. I was basically painted a grim picture of the possibility of my future, and knew I had to make plans. I'm in the process of moving next to my daughter in another state, so she can help me. I'm a very positive person, and have a positive outlook as much as possible, so none of this came as a shock to me. I simply want to know exactly what is going on and what it all means. My files in my computer seem to be a challenge to open right now, so I will attempt to find some hard copies of the reports I have, and I will post them when available.

 

[KimT]

I would do exactly what Laurie suggested.