Wha medical t history do I share with neuromuscular specialist

[Nurse618]

I have been waiting for four months to see neuromuscular specialist in Birmingham and my appointment is next week. I can barely get around in my house (bilateral "bad legs").

Neurologist I saw in June when my body was swaying like a metronome said he wanted to see me again in 6 months....thought it was an ataxia . He said my exam was pretty normal....except for the swaying. Ok. Here is the history. I am wondering if I share or or let the new neuromuscular specialist look at me with fresh eyes.

I was diagnosed with mitochondrial myopathy 16 1/2 years ago following bilateral cramping, muscle fatigue and atrophy below my knees. In retrospect I think I was probably overdiagnosed as neuromuscular specialist went through 2,000 cells to find red red ragged fiber,, but I did have slightly elevated lactic acid on two occasions.

This was my second muscle biopsy. The first was also slightly abnormal with features of reinervation . But I had very little progression in 16 years. In fact I regained strength (Something that doesn't happen in a primary mitochondrial disease or ALS.). And in reading the updated criteria for mitochondrial diagnosis, I do not believe I would have been diagnosed today.

Beginning in June I noted the imbalance and noticed gradual increasing difficulty standing, walking, using hands. Everything seems to weigh so much more. I have visible wasting throughout body. Other nurses notice it. Shoes that fit in July are falling off. I have difficulty drawing up insulin for my cat. The sleep dr heard my description of symptoms and looked at my hands and said he thinks I high suspicion of ALS and left the room. No exam.

I have twitching, spasticity and cramping, , a much higher pulse rate than 6 months ago and sensory issues like tingling, pins and needles, goose bumps in weird patterns ( I have found documentation where there are sometimes autonomic and sensory issues in ALS. ). This is true weakness vs fatigue which I have had during the past 16 plus years. I am always surprised when I wake up and get out of bed...walking is now so much work. I had to fight to get a 2 week disability tag for parking (rarely go out now as it takes so much effort). I used my Fitbit to keep steps under 3000 steps. What do I say to neurologist. Besides "what is wrong with me?" Jan

 

[Nikki J]

You organize your history of symptoms to be as concise and specific as possible. Concrete examples of what you can not do are good.
Yes you should report your past history and diagnosis but you can certainly also report the reasons you question it. We always advise the what is wrong with me approach as opposed to do I have ALS ( or any other disease a person might focus on)

I would encourage you to put as much in writing as possible perhaps a timeline with bullet points?
And if you have not yet read Laurie's sticky on getting a diagnosis do so. The more prepared you are the more you will get from the appointment. Good luck

 

[lgelb]

Agree w/ Nikki, do a one-page summary in chronological order, with specific examples of your capability when you were dx'd with the mito myopathy, the upward trend until recently, and lately. I wouldn't put the part about questioning the dx in your summary; that is for the facts, though it may come up in conversation. The reconsideration of that dx also seems kind of moot 16y later. This is about now, with the long-ago dx as background rather than the primary context for your current presentation.

Best,
Laurie

 

[Nurse618]

I saw neuromuscular specialist today. He did very limited exam which showed bilateral normal reflexes (2+) in legs . His assessment is my strength is normal although I know it has decreased (I was always extra strong farm girl). He said probably no MS, ALS or mitochondrial myopathy. I asked and he is doing a limited EMG--yet to be scheduled--and I am seeing cardiologist for my elevated heart rate. He wants me to have sleep study and has no idea why I have had severe imbalance with increasing difficulty walking or using hands since June.

 

[lgelb]

Does the tachycardia coincide with the new sx since June?

 

[Nurse618]

Yes. It started in June. Pulse 90s resting, 120 when standing today. I have history bradycardia (38) but not tachycardia. Many dysautinomia issues.

 

[lgelb]

I would come back to the motor/sensory issues after the cardiovascular exam. I would not be surprised to hear you have POTS (postural orthostatic tachycardia syndrome).

 

[Nurse618]

My thoughts exactly. Thanks Laurie.

 

[Nurse618]

Noticed bilateral clonus in arms today while grocery shopping. I have an EMG and Nerve conduction in Birmingham on the 11th.

 

[Nurse618]

EMG showed NO ALS. In either limb. Nerve conduction showed I have peripheral neuropathy. Dr drew 10 vials of blood to try see why PN. He thinks I have a problem with autonomic nerves, circling back to my original diagnosis of mitochondrial myopathy.