FALS weight loss

[ShellGoldsmith]

Hello all my hubby has been tested for FALS SOD1 he has a positive mutation and is showing same symptoms his entire father's side showed, now he is starting to show muscle loss in his right leg. we are still fighting for a diagnosis. as of last night we noticed something of concern to us he has lost with out trying 32 pounds in 22 days can i please get some feed back i am worried that he is progressing faster then his father who lived with FALS for 10 years his aunt lived with it for 6 months before she passed so there is no real idea on how fast this can go.

 

[Nikki J]

He needs to start eating mega calories I asked a question about FALs and weight in carriers to an expert in ALS who has a special interest in weight and metabolism. I didn’t get a good answer to my question but they did say if you are a carrier and start losing weight to up calories in a major way as hypermetabolism can be an issue and they even referenced sod1 particularly. They said 4000 a day would likely be needed

weight loss of course can have many causes but given sod1 plus a leg issue I would worry. He needs to be seeing an ALS specialist at an ALS clinic

on a positive note you may have seen biogen is granting early access to sod1 patient for tofersen. Fast progressing may qualify in mid July and others in September. The criteria are not known yet but it is another reason to seek a major ALS center for a possible diagnosis asap

 

[ShellGoldsmith]

we live in Washington state and go to the
EVERGREEN CHAPTER
ALS Association Certified Center of Excellence at Virginia Mason
1100 Ninth Ave. Seattle, WA 98101
206-341-1900 - Fax: 206-625-7240
Medical Director :
Xuan Wu, M.D., Ph.D.
Certified Treatment Center of Excellence
he has no appetite and can barely take in 1000 calories a day if he eats any more then that he has a really hard time breathing. the Dr's here have been messing around trying to say it is his diabetes causing all of this we've been to 2 ALS clinics this is our 2nd one.

 

[Nikki J]

Well as you of course know diabetes and some diabetes meds can cause weight loss and anyone eating 1000 calories will lose weight.
but the breathing is worrisome. If he has a normal emg and normal pulmonary tests then not sure what you can do. One of our mods is in WA and can advise if there is someone better to see. If the doctor is unaware of the weight loss I would call them at least and tell them about the breathing affecting eating

 

[jethro]

@shell, try supplementation with coconut oil. nothing helps more like this. if this doesnt help, nothing does.

q: i always read about burning calories, calory hunger etc. i lost 50 pounds of pure muscles since 9/17. i hit the bottom with 79kg while i was for the first time on intermittent fasting, may 1st 2020. since then, i am on IF but i am stabile with 83kg. als progressed (i dont speak, i'm weaker, 03/22 my fvc was 82...). kill me if i know why. who's gonna kill me (explain why)?

 

[Nikki J]

It occurred to me that you might ask them if it is possible to check his neurofilament level. This is not a standard test in the US and if they can do it you would probably have to pay. It seems to be a reliable biomarker for sod1impending onset ( not for other genetic forms as far as we know). They are using it in the new presymptomatic sod1 ATLAS trial to move people from observation into the intervention stage.

if it is high then you should be able to get the doctors to take this seriously. It is not diagnostic but it might make thrm look at him differently.

I honestly don’t know if you can get this done clinically. The only people I know who got results in the US had the original test done in a study. Studies are usually blinded but there were special circumstances where thry unblinded those results. In one case the person had to pay even though the study was doing it anyway

 

[affected]

Maybe you can up his calories by changing what he is eating a little, or just adding things like a spoonful of coconut oil to anything you cook, a big dollup of cream into gravies to put over foods. Making really high calorie smoothies can help, even if he just takes small amounts throughout the day it adds up. With diabetes thrown in, I would try and get help through doctors and dietician tho.

 

[ShellGoldsmith]

Okay so my hubby had his EMG yesterday at the Virginia mason ALS Certified clinic in Seattle and the Neurologist said he has neuropathy but not the treatable type and that he does muscle atrophy in his right thumb, right elbow and right leg from the calf down. then she sent us home no follow up nothing. What else can we do his primary dr said it is happing to fast to be his diabetes hubby was fine strength wise in November 2020 with no atrophy, now may 2021 he can barely walk is falling all the time tripping all the time and has atrophy in 3 different places on his body. Please we need help and we are not getting it.

 

[Nikki J]

If you want to share his emg report ( with the name blocked off for privacy) we might understand better what they see. It sounds like he has severe peripheral neuropathy that can cause weakness and atrophy but isn’t ALS but that is a guess. If you are not satisfied with his care then you need to go elsewhere. The people that I know who are FALS experts are in different parts of the country but maybe someone else can recommend

 

[ShellGoldsmith]

we are waiting for the dr to send us the paper copy of his results as soon as we have them i will post it thank you.

 

[lgelb]

I'm sorry that I missed this earlier, Shell. I would get him to UW (206-598-7688) as quickly as possible. When you call, reference his family history, verified atrophy, etc. Also, do post the EMG. I will PM you also.

Best,
Laurie

 

[ShellGoldsmith]

this is what we got from his nuro dr for the emg study

 

[Nikki J]

Well it does seem that he has some non ALS process going on. As you were told. However there is no rule that you can only have one issue at a time. Did you call the number Laurie suggested?

 

[ShellGoldsmith]

We went to the UW first and was told there was no test avail because of his diabetes and the neuro dr at the UW refused to do an EMG that is why we went to VM

 

[Nikki J]

Can you travel? Does he have insurance that would cover out of state?