My beloved husband is likely a PALS

[JGettingStarted]

EricinLA, Thank you so much for sharing this perspective. It is really helpful to hear - and also to be reminded that there are many different approaches (times, ways, what to say, even channels!) to inform family, loved ones and others.

I also wanted to thank you for knowing how overwhelming and scary things are right now -- with the reminder that there are good (even great?!) days ahead. One of the biggest challenges in this diagnostic limbo, for me, is that we aren't yet able to tap into the traditional support systems that exist....but thanks to this forum, I've been able to respect my husband's wish for privacy fairly easily without feeling totally alone. Here I realize we aren't the first and/or only folks to be experiencing this, by any stretch.

We continue to live each day as best we can and have lots of laughs thanks to the tiny children. I wonder and worry what I should be hoping for in the next EMG (no advancement in the results? tiny changes to signify slow progression?) but as much as I can focus on the here and now, and what we can control and do.

 

[Nikki J]

Being in true diagnostic limbo where the doctors have acknowledged the issues and the probabilities but need a time interval to go further is very hard. I know someone who is in a prolonged limbo and I wouldn’t change places with them.

try not to focus on the emg. It is going to happen and worry won’t change the results as you know. It sounds like you have done all you can to prepare so I am glad you are trying to focus on today. Enjoy the children but don’t forget to enjoy each other

 

[JGettingStarted]

We just learned that the ALS genetic panel came back with a mutation in VCP gene.

No family history of ALS so this is a surprise to us.

Genetic counselling to come.

I am in major shock and am incredibly upset - just wanted to update - and if anyone knows about this gene or can point me in the right direction to learn more would be hugely grateful. Apparently there are no clinical trials specific to this gene at the moment.

I am devastated.

 

[Nikki J]

I am sorry. I don’t know a lot about vcp. I do know it is autosomal dominant but known to cause other diseases besides ALS. I don’t know what the overall penetrance is or the penetrance for ALS. Those would be questions I would ask the genetic counselor. There may be some things that your neurologist can suggest off label or supplements that target the proposed mechanism or if you seek a clinical trial one may have a better mechanism now that you know this. Don’t worry about your kids neurogenetics is exploding. Answers are coming

Novel mutation in VCP gene causes atypical amyotrophic lateral sclerosis

To identify the genetic variant that causes autosomal dominantly inherited motor neuron disease in a 4-generation Israeli-Arab family using genetic linkage and whole exome sequencing.Genetic linkage analysis was performed in this family using Illumina ...

www.ncbi.nlm.nih.gov

 

[wishmobbing]

I'm so sorry about the news. It probably feels like the bottom dropped out. Damn.

If you still feel in shock the day of genetic counselling you could ask the doctor permission to voice record the meeting on your phone. It's hard to register, process and remember everything at once while being in an emotional rollercoaster. My PALS did that when he was getting his second opinon/diagnosis. Some days later he listened to it, took some notes and occassionally pointed out something interesting to me, that he'd flat-out forgot after an exhausting day at the clinic.

All the best to you and your family!

 

[lgelb]

There is a patient advocacy organization, that also hosts a VCP patient registry, that you might want to join, if only to further research. Google Cure VCP. They also had a conference last year, for which abstracts are on line, and there are several publications focusing on the science and potential therapeutics (no big news on the latter yet).

Connections discovered to date with ALS, FTD and other conditions are summarized here. Tufts is one of the US institutions most associated with basic research into these mutations.

 

[JGettingStarted]

Hi All,

Just a quick update, note of thanks and a few questions.

Update is that our appointments - EMG, doc, genetic counselling and more - have all been moved up to early June in light of the VCP mutation result.

My questions:
- My husband is very tired these days. Our work/family lifestyle is certainly hectic at the moment, which I am sure is a contributing factor, but I'm wondering to what extent either stress/depression from this diagnostic process and/or fatigue as a symptom of this disease is coming into play. I've asked him and will of course ask the doc but wondering if others have personal experience or thoughts

- While we wait these upcoming appointments we are trying to enjoy each day and live our lives thanks to the advice from you all - but in the back of my mind I am concerned about the financial burden this disease will carry for our family in the future. Am I right in thinking we should be feverishly saving $$ for things that insurance, grants or loaners won't cover? I imagine this depends on individual circumstances but presumably it's smart to be bolstering our savings nest egg while we can?

Thanks again for the thoughts and support from this community it is very appreciated. Laurie, the VCP website was super helpful to me, Nikki, I greatly appreciated and think often of your confidence in neurogenetics for my kids and wishmobbing you always have amazing suggestions. Appreciate you all and the rest of this group.

 

[Nikki J]

Re fatigue. Likely it is a combination of factors. It does take more energy to do things if he has areas of weakness and other muscles are compensating but being stressed and overbusy could account for it too. If this is ALS it is important to pick your battles so to speak and not waste energy doing unimportant things. Ultimately for most of us family is most important.

ALS is usually expensive yes. It is hard to know what to say because everyone’s situation is different. I do believe it is vital to make memories but they don’t necessarily have to be expensive ones. On the other hand unless you are going to be destitute I don’t know that extreme penny pinching is good either. If he is diagnosed he will presumably get ssdi If there is disability through work that is good. There are ssdi family benefits too and there may be state programs. you can get some small support services if you have a decent alsa chapter. If you don’t there may be a local charity. In NE there is CCALS in the Maryland area there is the Brigance Brigade. You won’t be alone but it does depend on location

 

[wishmobbing]

All the reasons listed are good enough to make him tired. Maybe he would like an afternoon nap to rest his muscles? Another very ALS specific (and hopefully not yet relevant reason) would be breathing. Has this been examed at the clinic recently?

 

[JGettingStarted]

Hello to all

@wishmobbing thanks for the tip on breathing exam. I don’t think this has been done since our first visit so we will ask at our next clinic trip which is coming up.

A question as we get our ducks in a row ahead of next clinic visit … docs have said this is likely the time our diagnosis will be formally put in records (pending next EMG results) … is it possible for us to still procure long term care insurance? We already have the first abnormal EMG, genetic test results and more so I assume it’s a moot point and would be considered a pre existing condition but just don’t want to leave any stone unturned.

Husband doing Ok … still tired but no symptom progression that he’s noticed. We are having as much fun and laughs together as possible.

Sending warm wishes to all.

 

[Nikki J]

I doubt it for for ltc. I got mine before c9 was even discovered and when I was fine. They asked about any doctor visits and I had to sign a record release. I have been told that insurances are now asking about genetics more often as well. You could apply of course but I am fairly certain you would be asked questions that if answered honestly would result in a refusal. sorry.

 

[JGettingStarted]

Hi All,

Hope everyone is doing well and having a good start to the weekend. I wanted to write an update that we were back at our ALS clinic for our follow-up EMG and what we were told would be our official day of diagnosis.This was also our first time seeing a new doctor (within the same clinic, our previous doctor left the hospital to join a biotech).

Well, to our surprise, our new doctor informed us that based on this EMG and the other evaluations (strength test, etc.), my husband has myopathy and not ALS. This also correlates with his genetic mutuation, with 90% of people having myopathy vs. only 10% having ALS.

With the last few months being such an emotional roller coaster, I found the news hard to believe and also hard to grasp. Our first doctor was so, so sure it WAS and now this doctor is sure it ISN’T. I am so, so happy he does not have ALS, but am still learning about myopathy and know there will be challenges on that road too. Although, the road does seem longer and gentler. Overall I feel like we have won the lottery - so to speak.

I wanted to update this group and also to say thank you for being supportive, responsive and kind during what has been the most difficult time in my life.

We will be transferring from the ALS clinic to the neuromuscular clinic and developing a treatment plan from here. We are also discussing if we want/need to get one more opinion. My husband’s sleeping problems / tiredness has improved greatly and both of us emotionally are doing much better.

And we will continue to enjoy the summer and life, one day at a time.

Wishing all the very best and thank you again from the bottom of my heart.

 

[wishmobbing]

That is indeed shaking but very good news! I'm happy you are both feeling better and are ready to learn about myopathy. A second opinion never hurt. I don't know if the second docs opinon would count already. But I guess there will be initial exams at the neuromuscular clinic and that should give more certainty.

All the best wishes, too!

 

[Nikki J]

I would agree with the second opinion need I think myopathy is the first solid diagnosis so going to the new clinic will be another opinion.

I am happy for you ( this is a strange place where myopathy is good news). Good luck with managing this going forward.

I think this illustrates how it is really true that even experts can be wrong and suspicions of ALS need to be verified and then confirmed with another expert opinion. Biotech doctor might well have given the new diagnosis too with the new emg of course

thank you for letting us know. Wishing you and your family all the best