KatharinaRose
New member
- Joined
- Nov 18, 2020
- Messages
- 2
- Reason
- Learn about ALS
- Diagnosis
- 00/0000
- Country
- US
- State
- OR
- City
- Springfield
I was diagnosed with Charcot-Marie-Tooth two years ago. Last Friday, my doctor wanted to know if I wanted her to write a prescription for a wheelchair. I said no. I try to walk as little as possible, and I have walkers. CMT is supposed to be slowly progressive. NOT. My proximal muscles are affected. My entire leg will go numb in the middle of walking. In Flex AFOs, I still have steppage gait, because I can’t just put my heal down without losing balance.
My physiatrist tested my reflexes- all clonus, except for my ankles, which have no reflexes. She said I have the Hoffman’s sign on my hands. I wonder if I gave the split-hand sign, since I only have atrophy on the thumb side of my hand, between thumb and forefinger. My left hand is noticeably smaller than my right.
I have exercise intolerance. One 20 minute PT session will leave me aching in bed for 3 days or more. I’ve lost more than half my leg strength. I cannot get up and down from a chair to do “sit to stand” more than about 4x. When I could do it, my score on that test was as low as an 80 year old. I get sets of shivers, like 20 or so traveling together under my skin.
Every time I open my mouth in a mirror, I see my tongue twitching involuntarily. My feet do too, but just sometimes. My physiatrist says I definitely have a serious neurological disease- She thinks it‘s MS or CIDP. I asked about ALS, and she said no. I developed lots of odd eye problems last year- kerataconus, convergence insufficiency, and diplopia. It doesn’t come and go. It’s permanent. So, I probably have MS because of eye problems, right? I also have cog fog and can‘t organize well.
In 2 weeks, I meet with a neurologist. I know you aren’t diagnosticians, but does this sound like your story at all? My physiatrist said if I gave more problems before the neuro appointment to go straight to the ER and not to her, because a neurologist might be there.
All of this happened in just two years. I had my whole Exome analyzed. I have zero genes linked to any conditions. Still, I could have de novo CMT with another disease, or it could all be part of one. All I know is, I’m not far from a wheelchair, and I try to move as little as possible to conserve energy.
I hope you will also tell me no, it can’t be ALS, and not to worry about it, so I can go on my merry way.
My physiatrist tested my reflexes- all clonus, except for my ankles, which have no reflexes. She said I have the Hoffman’s sign on my hands. I wonder if I gave the split-hand sign, since I only have atrophy on the thumb side of my hand, between thumb and forefinger. My left hand is noticeably smaller than my right.
I have exercise intolerance. One 20 minute PT session will leave me aching in bed for 3 days or more. I’ve lost more than half my leg strength. I cannot get up and down from a chair to do “sit to stand” more than about 4x. When I could do it, my score on that test was as low as an 80 year old. I get sets of shivers, like 20 or so traveling together under my skin.
Every time I open my mouth in a mirror, I see my tongue twitching involuntarily. My feet do too, but just sometimes. My physiatrist says I definitely have a serious neurological disease- She thinks it‘s MS or CIDP. I asked about ALS, and she said no. I developed lots of odd eye problems last year- kerataconus, convergence insufficiency, and diplopia. It doesn’t come and go. It’s permanent. So, I probably have MS because of eye problems, right? I also have cog fog and can‘t organize well.
In 2 weeks, I meet with a neurologist. I know you aren’t diagnosticians, but does this sound like your story at all? My physiatrist said if I gave more problems before the neuro appointment to go straight to the ER and not to her, because a neurologist might be there.
All of this happened in just two years. I had my whole Exome analyzed. I have zero genes linked to any conditions. Still, I could have de novo CMT with another disease, or it could all be part of one. All I know is, I’m not far from a wheelchair, and I try to move as little as possible to conserve energy.
I hope you will also tell me no, it can’t be ALS, and not to worry about it, so I can go on my merry way.