Familial ALS SOD1bc.341T>C (p.Ile114Thr

[ShellGoldsmith]

Hello everyone, I made my first post on Apr 28, 2021. At that time my husband we already knew had a positive mutation on the SOD1 bc.341T>C (p.11e114Thr results received 10/09/2018 and had been showing some choking issues beginning of 2021 he started having weight loss. We've managed to slow the weight loss with adding certain things to his diet. So now for the update he has redone his:

XR SWALLOWING EVAL WITH SPEECH
COMPLETE PFT WITH DLCO
MR LUMBAR SPINE WITHOUT CONTRAST
VITAMIN B12
METHYLMALONIC ACID, SERUM OR PLASMA
PROTEIN ELECTROPHORESIS SERUM
KAPPA/LAMBDA, FREE, SERUM1
IMMUNOFIXATION AND PROTEIN ELECTROPHORESIS, SERUM
PROTEIN ELECTROPHORESIS, RANDOM URINE

all of which are showing negative changes so now we are waiting to see his neuro Dr. Weiss at the UW in Seattle
since the 1st of January he has fallen 4 times with sever bruising and pain. His legs are so stiff and painful he can barely walk mostly stays in bed because of this and we have to small of a house for a manual or power chair. His body is refusing to let him sleep. we are hoping that the Dr will finally give an official diagnosis so we can get him some help We are both on disability, so this is extremely difficult on our family. For those of you who read this far thank you.

 

[lgelb]

Let us know how it goes at UW. If you are both on disability already, not sure you will be eligible for other benefits apart from ALSA support, but would encourage you to speak with your PCP as regards pain relief even now, and social work at UW to access any resources available given the current status.

 

[ShellGoldsmith]

Update We seen Dr. Weiss on Friday and went over the current test and now instead of the Dr saying my husband is an Asymptomatic carrier of SOD1, the Dr is now saying he wants a sitting and supine spirometry with evaluation of MIP and MEP, and a FIBEROPTIC ENDOSCOPIC EVALUATION OF SWALLOWING done by an ENT for emerging ALS and that he'll make his final diagnosis after these tests are completed. On a scale of 1-10 on quality of life 1 being best and 10 being worst my hubby feels like he is at a 8. We live in a single wide mobile home door widths of 27 inches so getting a wheel chair to help him move around wont work in our house ALSA is trying to find a way to help and we all keep running into dead ends we are both on disability and can barely afford the basics, We have no family around to help and very few friends. And I am starting to feel like I am losing everything.

Sorry just need to rant a little

 

[lgelb]

Did you ask about a UW social work appointment? The ALSA may not be as well equipped to navigate state/federal programs for people already on disability. For example, sounds like your housing situation may require re-evaluation. Or it might be possible to adapt it to some extent, and there are homebuilder charities that do that. I would make sure that you or someone on your behalf has contacted all the potential resources for disability in Whatcom and Skagit County.

 

[ShellGoldsmith]

Ok everyone I need some Ideas. As I have posted before hubby is going thru testing for FALS he now considered an emerging ALS Patient, The problem we are having is he has had moderate to sever depression since he was 13 yrs. old counseling and medication have never worked on him, he been told by several councilors that sorry but there's nothing we can do we've tried everything we know....... Since the symptoms got worse and has diminished his quality of life and his ability to do the things he loves his depression has gotten worse and now he's having panic attacks and sever mood swings his ALS mutation is not linked to FTD but his mental health is declining and I am not sure how to help him. Please any ideas ????

 

[wishmobbing]

Your situation sounds very tough. I'm sorry you both have so very little wriggle room.
Did he already have some of the exams you wrote about in your previous post?
A thought about the panic attacks, maybe this question is directed to other forum members. Could they be linked to breathing, a.k.a. air hunger? How is his sleep? Does he wake often at night?

 

[ShellGoldsmith]

Sorry for the long wait for a reply been busy. Yes he has completed most of the testing he goes in for his laying down PFT this Wednesday to tests diaphragm and in June he goes in to have gastro put a camera and another thing down his throat and nose to see what is causing the weakness and edema in his esophagus.

 

[ShellGoldsmith]

August 2020 Complete PFT with DLCO
Narrative & Impression
Pulmonary Function Test Report
Diagnosis:
Date of study: 8/12/2020
The data was reviewed and is adequate for interpretation. Spirometry shows forced vital capacity is 73%
predicted. FEV1 is 79% predicted, which is normal. FEV1/FVC ratio is 0.84. The flow volume loop is normal.
Following administration of inhaled bronchodilator there is not a significant response. The post bronchodilator
FEV1 is 80% predicted. Lung volumes show total lung capacity is 86% predicted, which is normal. Residual
volume is 109% predicted. Diffusing capacity is corrected for hemoglobin and is 81% predicted.
Impression:
1. Normal spirometry and lung volumes.
2. No significant response to inhaled bronchodilator.
3. Diffusing capacity is normal
4. There are no prior studies for comparison

May 2022 Complete PFT with DLCO
Narrative & Impression
Pulmonary Function Test Report
Diagnosis:
1.Mild intermittent asthma without complication
2.Shortness of breath
3.Cigarette nicotine dependence with nicotine-induced disorder
Date of study: 5/18/2022
The data was reviewed and is adequate for interpretation. Spirometry shows forced vital capacity is 71% predicted. FEV1
is 75% predicted, which is mildly decreased. FEV1/FVC ratio is 0.84. The flow volume loop is normal. No bronchodilator
was administered. Lung volumes show total lung capacity is 82% predicted, which is normal. Residual volume is 108%
predicted, the RV/TLC is 130%. Diffusing capacity is not corrected for hemoglobin and is 94% predicted.
Respiratory muscle testing:
Sitting FVC is 3.48L (71% predicted) and declines to 3.15L with supine position, a change of -10%
Sitting FEV1 is 2.92L (73% predicted) and declines to 2.6L with supine position, a change of -12%
The MEP is 100 and the MIP is -81
Impression:
1. Nonspecific mild ventilatory defect without evidence of obstruction or restriction.
2. There is a borderline significant decline from sitting to supine spirometry with relatively normal MEP and MIP
3. Diffusion capacity is normal
4. When compared to previous study dated 1/19/2022, there has been no significant change in FVC, FEV1, TLC but
there has been an improvement in DLCO by 12%.

 

[lgelb]

Normal and stable MEP and MIP is very good news as regards the possibility of ALS. I'm sure you have a lot to deal with, but as the report notes, smoking tobacco or anything else doesn't help any lung compromise (and esophageal irritation is often caused by smoking also). I know there are a lot of Washington State programs to address nicotine dependence, for example. It is a treatable condition, and in this life, treating what you can makes a lot of sense.

 

[ShellGoldsmith]

My hubby just had his telehealth visit with the neurologist. Dr Weiss says he wants 1 more in person physical but has diagnosed hubby with Emerging Familial ALS....... Dr. wants him on riluzole, my hubby says no because it only adds a couple of months to life, Dr was not happy to hear this. our primary care Dr has asked if we want palliative care thru hospice due to Hubby's extreme weight loss, we are talking about it, neuro Dr says hubby don't need hospice or palliative care.

 

[Nikki J]

I don’t know what emerging FALS means. Is it ALS or not? Riluzole slows progression. Mass general used to say by 10 percent now they and at least one other internationally known ALS specialist say 30%. If this has been ALS right along his progression has been very slow so 30% would be much more than 2 months. Also riluzole is now being prescribed when ALS is suspected

what he chooses is up to him I understand he has multiple medical issues so this isn’t just an issue of ALS. If it were I would say take riluzole and push for a firm diagnosis and tofersen