hereditary neuralgic amyotrophy

[zenobia]

Rantish first post: I have heriditary neuralgic amyotrophy (Parsonage-Turner). My father, Grandmother, Grandmother's brothers, great grandmother-all had this. My father's first cousin recently died of respiratory failure secondary to the disease.
Absolutely no one treats it or has any interest in it. My left arm is paralyzed and withering, my left leg spasms require me to use a walker. I am incontinent. I cannot eat anything thicker than thinned down stage 2 baby food, and subsist on that, Ensure and Scandishake. My voice is very difficult to understand. Of course I have no doctor, and no neurologist will touch me with a ten foot pole. I've had emgs which clearly show axonal neuropathy, its just that no one has any interest whatsoever in the disease. It annoying dying like this with no supportive services, no doctor, just urgent care and the ER.

 

[twitchykitty]

I'm sorry you feel like you have no support going through your illness, I imagine that's very hard and I do feel very sorry for you.
Not knowing much about your condition I just read 6 medical articles on it so I could understand .
From what I've read it's non fatal illness that usually gets better in 2 years without any treatment. Most regain 70-90% of their strength back, if not then they look at treatment.
It's not common to have tongue involvement so I'm very sorry you're experiencing that.
I take it all your other family members survived? Did they eventually recover?
I did read it's very very rare for the diaphragm muscles to be involved , and you didn't mention breathing difficulties that's a good sign. If only one out of all your family had that problem, hopefully you will not either
How long have you been struggling with this illness?
What did your doctor first tell you when you were diagnosed? Did they say it's fatal to you?
Can you perhaps find a new doctor to talk to about how you're feeling?
A lot of questions I know, I'm just hoping to understand more for you

 

[twitchykitty]

I should clarify the no treatment, because you have a genetic predisposition is that why they didn't offer anti viral or steroids? As they do if they think a virus or surgery etc caused it? Did they at least refer you to a physiotherapist?

 

[zenobia]

>From what I've read it's non fatal illness that usually gets better in 2 years without any treatment. Most regain 70-90% of their strength back, if not then they look at treatment.

All my other family member progressed to respiratory failure and died, its just father's cousin was most recent. I had my first attack at about seven months and had to be hospitalized with failure to thrive due to the gastroparesis. As I have aged, recovery has been slower and slower. Its been 4 years now (this was triggered by dental extraction) and I have had no improvement in swallowing, walking or using the arm. Was told physical therapy was useless. When I was diagnosed the neurologist told me with a great deal of throat clearing seriousness I had ALS, which was quite funny, since I'd already had symptoms progressing along slowly for 40 years at that point. Getting a doctor is impossible, urgent care manages my blood pressure meds. The only option I have is seeing something like an osteopath, but I don't know much about that form of alternative medicine, and don't have much faith in that sort of thing.

 

[Atsugi]

"something" like an osteopath? Do you mean a Doctor of Osteopathy?

My wife was an MD for 20 years, so naturally I agree with your reticence to see "alternative" practitioners. However, an experienced DO is fine for most things. American DOs get pretty good training.

In the US, the two most popular primary care doctors are MDs and DOs. If a DO is all you have available, you should go meet the doc and discuss if her capabilities meet your needs.

 

[twitchykitty]

It seems HNA is a variation of parsons turner. Reading that makes a lot more sense to me in that you can have regular attacks of it life long and can be slower to recover or not recover as much (which only seems to be recently discovered). With only 200 cases well documented worldwide, explains why the neurologists don't know much. But that does not excuse the lack of help/support

. Is there any way you can keep hunting for a different doctor that can refer you to a physiotherapist of physiatrist? a speech therapist? Do you think finding a good doctor that could monitor autonomic symptoms like bp would help or do they come on too sudden

. I will keep my fingers crossed for you that you don't get diaphragm involvement and pray you will be the first family member to not experience that. As I said I know very little about it and I'm sorry you have to go through this. My sympathies too for your recent loss as well

 

[zenobia]

That's not 200 cases, that is 200 families. And these things are a lot more common than you'd think, specially because people like me get kicked to the curb and not included in any data. Example:
https://globalgenes.org/raredaily/n...gh-in-rare-disease-that-only-affects-lumbees/

 

[twitchykitty]

Thanks for clarifying 200 families not 200 cases , that is just how the government & medical article stated it. Believe it or not I'm on your side! No one should feel like they've been kicked to the curb , excluded or especially left without support. I wonder if some of the rare diseases forums might be of some help as well .
Take care