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MikeTpa

New member
Joined
Jul 21, 2018
Messages
4
Reason
PALS
Diagnosis
08/2018
Country
US
State
FL
City
Tampa
Hello all,

First I want to thank you for the plethora of information I found in the *Please Read* posts. It answered many of my questions. I also found some helpful info reading other posts.

I am a rationale 47 year old Registered Nurse and am working on my PhD in nursing so I don't want to sound like some other medical professionals who asked questions and appear to be over-self-diagnosing symptoms, but.... I'm afraid I am, but in the back of my mind I'm afraid I'm not, so I'm looking for guidance.

ALS runs in my family, my maternal great-grandmother and grandfather died of ALS in the 60's and my maternal cousin died at age 42 in 2011.

My first fall happened May 2017, and did damage to my ankle, minor tears, clumsy Mike. But the falls kept happening, 12 total in the last year. My ortho says it's because my ankle is unstable, which required surgery in May 2018. In February I fell again, not because of my ankle, my knee gave out, which had progressively gotten weaker. A few weeks later I had foot drop in that foot. Since surgery I've lost all strength in my right leg. I still cannot dorsiflex and PT says I have lost a tremendous amount of muscle in my core, hip and knee as well. I can't lift my leg anymore. Again, my Dr says it's due to decompensation from limping and then surgery. My PT feels is neuromotor. That might explain my leg, but the fasiculations began in my right leg and left arm last summer. Knowing it can be random, I didn't worry about it. About the same time as my fall in February, I noticed I could no longer lift a gallon of milk out of the top shelf of the fridge. Now when I wash my hair or take off a shirt, I can't lift my left arm to that level.

I ask my Dr about this and an xray showed calcific tendonitis in the shoulder, but that was minor. I was given additional PT, which is not improving it. Two weeks ago I started noticing I was garbling words sometimes. Things came out slurred. I have to be careful to over-enunciate so the word comes out right. My Dr thinks I'm over analyzing. He's not a neuro though. I've asked for a neuro consult with the same response.

I'm to the point of bypassing my Dr and going straight to a neuro anyway, but to be honest, I'm scared. I rationalize that all the people in my family with ALS had rapid-progression and died within 6-9 months of diagnosis.

Please let me know if I'm over anxious about this and I apologize for the length of the post.

Mike
 
Hi Mike
Sorry about your family. What happened to your mom? As you know if she did not have the family mutation you don’t either.

That said a neuro consult sounds perfectly reasonable and your symptoms concerning enough that you should get that. If you don’t need the referral just go. I would even try for neuromuscular given the family history. This could be a lot of things but FALS changes the odds unfortunately.

Good luck. Keep us posted
 
Hi Nikki,

Thank you. My mom passed away from breast cancer at 41. All three girls died before 60 from cancer, which is from my maternal grandmother's side. I work at a cancer center and have had the genetic testing and did not inherit that mutation, thankfully. So there's no way of knowing if they did have the ALS mutation. I'll call on Monday and make a neuro appointment. I will keep you updated.

Mike
 
I agree with Nikki. I'm not saying you do have ALS, but with the family history and true weakness I would get this looked at by a neuromuscular specialist now. Go back to your doctor if the problem is not in this area. I know it is scary, but it's worth checking and hopefully ruling out.
 
I am sorry about your mom.

That sounds like a good plan. USF seems like the best place to go. If you can’t get seen in the ALS clinic because they require neuro notes or an emg first ( not all neuromuscular clinics do this) then try for a general neuro there who could facilitate a lateral transfer if needed

Now is probably a good time to ask for favors if you have friends with helpful connections.

There is encouraging work in FALS for SOD1 and C9 orf72. These are the most common causes of FALS. There is a trial of antisense therapy for SOD1 currently that has been going on for 2 years and seems promising. They keep expanding it and upping the dose.

Antisense for c9 is coming to trial this fall with 2 more trials for c9 ( another antisense and a therapy addressing issues with the nuclear membrane) expected in the winter

If this is ALS get gene tested quickly so you can try for trials

Antisense has had some amazing success including in neurologic disease SMA therapy is approved and HD is looking promising
 
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I agree with the above posters. Because you're evidencing concerning symptoms, if you can, go straight to a neuromuscular specialist. Please keep is posted as to how things are going. And please be careful not to fall!
 
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