ALS Journey Update
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- Опубліковано 1 жов 2024
- Just to keep you updated on my progression. I have a likely pathogenic for ALS variant of SOD1 (c.286G to A; p.Ala96Thr) with a variety of symptoms. My most severe is a low MIP and MEP which has qualified me for a non-invasive ventilator at night. I also have LPR, silent reflux, so my vocal cords are burned, throat is sore and I’m hoarse and choke occasionally. My big toes don’t move and others curl under, plus I have abnormal reflexes and now my left hand seems to be effected in the same way my toes were which is concerning me. If I lose one hand I can still manage pretty well, but both will be a challenge. My EMGs keep coming back clean. I can’t get an official ALS diagnose without the abnormal EMG. At least it looks like my dr can get me a placard for my car so I don’t have to walk so much. Rollator cane is on the way. Thanks for following#myalsjourney #medicalmystery
When did your symptoms start? And have you been officially diagnosed?
I’m diagnosed with motor neuron syndrome, pre symptomatic ALS. I’ve had symptoms my whole life
@@LaineyMelnick okay because ive been having breathing weakness for like 3 months now and it’s 24/7 and doesn’t go away and I’m scared I might have ALS. I’m 20. When your symptoms started when you were young did you have breathing weakness 24/7 or did you have like episodes of it?
@@andrewl6687 episodes. There are many reasons it can happen though. Go see a pulmonologist. It feels like air hunger. I can’t get a deep enough breath. Worse at rest and laying down.
@@LaineyMelnick okay so for you, you would have bad shortness of breath for a period of time when you were younger then it would get better. Like on and off? I’m seeing a neurologist in 3 days. Also you look very good for your age
@@andrewl6687 Thank you. I would be unable to breathe and sometimes collapse from it. It has been on and off since I was 15. I saw every possible doctor but no one ever tested my diaphragm until this last year and found my MIP and MEP are very weak. I also have sleep apnea for about 10 years and have been on a bipap since then, now I’m on a ventilator at night.
My heart with u❤
You have a brave heart
Thank you 😊
Try more Mrna boosters! They are perfectly safe and could help. It is science.
I don’t have an impaired immune system but thank you for the suggestion
Do u have a confirmed diagnosis of als? I don't think it is
It’s officially motor neuron disease. I’m seeing a specialist end of this month to see if they will give me the official diagnosis.
Really dont belive you have ALS. What you are desceibing seems a bit all over, if you have bulbar ALS, your speech is really good, i cant notice any change from your video 4 months ago to 1 month ago. That should be a good sign?, your video of swallowing looked fine, there was nothing down the airpipe. There is totally normal not to be able to spread toes. Does your doctor actually belive you have ALS, or cant they rule it out yet?
Your EMGs keep comming back clean... If its truly ALS it would show on EMG. I cant wrap my head around that you seems to function very well on your video. You said in your video in september that is progressing fast, i wonder why your not full of spaisticy now, or even having major problems with forming words or talking. Once ALS is setting in, 3 mounths is quite some time.
I cant understand what clinicaly your dr points to for a ALS diagnosis. With clean emgs on top.
I cross my fingers for you, you seems to be an exceptional rare ALS case for an exceptional rare diagnosis.
Based on your videos, and from what i know of ALS, i think its much more likely that you have something else, but not a doctor. Good luck, hope for the best for you.
My symptoms are not easily seen on video. My respiratory issues are my worst symptom. I’m being tested still about my swallowing and GI issues. My UES is causing LPR. I’m not fast progressing, it’s slow progressing. I have not been officially diagnosed yet. They need more empirical evidence first. I have been told by several doctors my symptoms are neuromuscular. Everything else has been ruled out. SOD1 mutations are very newly discovered. No one knows how they present differently. Time will tell.
Hope for the best, but you also have a video of you are unable to open a cookie box, that would be considerd a very noticeble clinical weakness. So your symptoms do not seem so subtile. But you also have clean emgs! That must be something your doctors have commented? Hope you get well, and that this is not ALS
@@TheBaroquecomposer I appreciate your concern. It takes months to years after symptoms start for many people to get diagnosed with ALS. The doctors want to be very sure. I am acceptant and prepared for it. Thank you for caring.
U r correct.these can't be als