Previous poster - wife officially diagnosed

Blues88

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Mar 12, 2019
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Hi,

Unfortunately, my wife has been officially diagnosed with bulbar onset ALS by the Barnes/WashU neuromuscular clinic. Dr. Bucelli has been tremendous, and thanks to my wife's absurdly detailed symptoms journal and timeline, his team condensed all of her testing into a few weeks. No doubt, most of you know how long such a diagnosis takes, and despite the previous 6 months being pretty tough, seems like her persistence (and incredibly ability to PUSH people) got us a diagnosis relatively quick. I truly sympathize with everyone who waits and waits and waits. In this respect, because her speech was affected, there was a tangible problem to investigate, as opposed to trouble starting in the limbs and the tendency for many of us to brush off those kind of symptoms.

She's having trouble swallowing and her breathing has taken a hit. We're getting a BiPap and a vent to use as needed as we speak. Her gait has been affected, and her right side is weak, but she's still walking and talking [email protected] and being an incredible mom and wife. She's a natural scrapper, so in a way, this is easier for her than it is for the rest of her family, myself included. We're....soft. She's still picking us up!

I'll try to be active as time allows here, and I have a ton of questions that I'll be sourcing info on. This is a really robust forum, and that's a credit to everyone here! Thanks for doing what you do....this is a terrible situation to be in and the accessible knowledge is truly appreciated.

A few scattered thoughts about this process from a personal perspective:

The more nuance, the better, when discussing EMG results. I think it's a tad bit simplistic to say "Clean EMG = No ALS," though I understand the impulse as ALS patients with clean EMG are exceedingly rare. I think the source of the EMG matters. A general neurologist may not be sophisticated enough to read EMG results to determine ALS or perhaps they tested areas that may not be as affected at the time of testing.

I wish it were the case that if neurologists thought an EMG was necessary for anything beyond, say, carpal tunnel, that they'd accompany that testing with a referral to a neuromuscular specialist. I'm sure you can tell I'm speaking from personal experience here....4 months may not seem like a lot...but when it's ALS, time is of the essence. Would have been nice to get a referral in December, as opposed to March (from another doctor).

Keep track of symptoms and timelines. This is getting easier with patient portals, but I can tell you, the documentation my wife provided to the ALS clinic at Barnes was instrumental in getting her testing appointments pushed up. Sure, some of this has to do with her age (31), but I believe this advice is universal. Everyone here knows this...I'm just saying it as it bears repeating. Be your own advocate (as much as possible). The reality is, doctors have a lot going and even at a huge hospital like Barnes, the flow of communication from clinician to medical staff can fail....and it's us as patients and family that take the hit. Not anyone's fault, but don't feel weird about following up and pushing the pace!

And that's it....I'm really green at this, so I don't have too much advice. I'll learn from you. We've been doing one fun thing a day with our daughter, just simple stuff like walking around the park and watching the ducks, or watching that terrible but sneakily good Muppets movie, or re-tracing our early-relationship steps. We were kids! Now we're adults! So while the retrospectives are devastating, they're equally incredible and satisfying. This definitely sucks....we're 31 with a 9 month old. No two ways about it. But there's no other recourse. Falling into despair isn't living, and living is the whole point!

Thanks for being here,

John
 

Bestfriends14

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CALS
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05/2017
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Oh crikes, I'm so sorry to welcome you here and at such a young age. Although a fresh diagnosis sucks, this is a wonderfully supportive and knowledgeable community. Please ask any questions you may have.

Hugs to you, your wife and baby girl.
 

KarenNWendyn

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Sorry to have to officially welcome you here. It sounds like there has been quite a bit of disease progression since you initially posted. I’m sorry to here that. I’m glad to hear you are focusing on doing fun things. Those experiences and the love you have created are what matters.

Best wishes moving forward. We’ll try to support you as best we can.
 

lgelb

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Very sorry to hear about your wife's diagnosis, John. If she has trouble swallowing, presume a feeding tube will be offered.

I'm a bit confused by your mention of "BiPAP and a vent[ilator] to use as needed" since a BiPAP is either a "non-invasive ventilator" or, if hooked up to a tracheostomy, an "invasive ventilator." But either way, there is no separate "vent." Anyway, we're happy to help you help your wife make the most of any/all devices she opts for.

I just want to clarify that a clean EMG is a strong piece of evidence against ALS, but I would never tell anyone with objective evidence of inability to perform activities normally that nothing is wrong. As you have noted, John, your wife unfortunately has noticeably impaired speech, swallowing and gait, among other deficits. Most people who come here worried about ALS do not have such deficits on clinical examination.

+1 to Karen's advice to gather the rosebuds with each other and your daughter.

Best,
Laurie
 
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Nikki J

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Very sorry to hear. A friend of mine sees Dr Bucelli too and likes him very much.

Sorry too that things are progressing.

Please encourage your wife to open her own account when she is ready. We do have another young bulbar onset PALS here though she is busy writing a book just now!
 

Kristina1

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I'm so sorry to hear about your wife's diagnosis.

Nikki mentioned me above- I was diagnosed as bulbar onset 2 years ago at age 31. Like you mentioned- having speech changes sped up the diagnosis process and I was diagnosed over a period of just 5 weeks. At my preliminary diagnosis right after my EMG the doctor said, regarding the EMG results, "there's other things that might cause what we're seeing in your hand, but really only MND can do this to your tongue" or something like that.

I have 3 young kids and I know how hard this is on the whole family. Please feel free to give my contact info to your wife if she wants to connect. I'm also in a FB group for young people diagnosed and it is a very supportive little corner of the internet. Many members diagnosed in their mid-late 20s and early 30s. If interested search on FB for "ALS Under age 50" and it should come up.

If your wife is starting to have trouble swallowing I'd encourage her to consider a feeding tube. I got an early feeding tube, about 4 months after my diagnosis, because I was having trouble swallowing medication. I think it was one of the best decisions I've made relating to my ALS. I started using it just for meds and hydration, and then began gradually adding supplementation to keep my weight up. It's made my life a lot easier and, I believe, helped slow my progression-- or helped *not* speed it up if that makes sense.
 

Blues88

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I had a reply typed out but never sent it and the days march on....

I appreciate the information from everyone! I'm just a little bitter (something I'll own) about her experience with the neurologist in December. It's not worth it....things are what they are. She' using a Trilogy 100 vent at night and as needed throughout the day. It seems to be helping, though her energy heavily waxes and wanes. +1 for being organized and having a general care plan....I thought (naively perhaps) that with such a specific, rare disease, an ALS clinic would function a little bit more proactively than most PCPs do, but alas, scheduling is letting us down, as I'm sure it has to many others. After being introduced to the resources in "clinic", which are regular, weekly sessions, we kind of looked at each other a week after and couldn't really grasp what we should be doing NOW. The devastation and release cycle of the diagnostic process certainly morphs into a bizarre sense of emptiness and uncertainty. I guess I thought there'd be a bit more...I don't know...direction?

Kristina, thanks a lot for the information and suggestions. We've discussed a feeding tube, and my wife is open to it. All about preserving strength! I'm so sorry that you're in a similar boat and if you don't mind, I'll probably be picking your brain about a few things moving forward.

Everyone has been phenomenal and we really have a big support structure. As uncomfortable as it makes me, my wife asked her friends to set up a gofundme, which has done incredibly well and the process has been humbling. That said, I feel totally broken despite being more engaged in the day to day grind of life than I've ever been. I love my daughter tremendously, and she's probably saving my life from feeling much less worthwhile, but I love her so much because I love my wife so much. It's hard as hell to ward off the pain. I can't imagine how my wife feels, though we talk about everything and always have. Still....this, I imagine, is not something easily described.

How does everyone....cope? I feel like there's absolutely nothing good in this, other than the fact that I still have my wife and baby and family. That's enough...or it should be enough. But sometimes I can't stay in the moment, and I focus on what I'll be losing....and it's the most disgusting, baseless, devastating feeling I've ever felt. How does one cope, and how does one ward off bitterness?
 

lgelb

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Bitterness is part of the package, Blues. There are no saints here. With love comes loss.

When you start to focus on that part, try the lens of how the memories of that moment will nourish you and the pics/video you will show your daughter when she is older. You are the reporter, the storyteller for her.

Of course, that doesn't have to mean grand trips out -- just being together.
 

KarenNWendyn

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Strategies for coping and warding off bitterness will be different for each of us and you will ultimately find what works best for you and your family.

My approach is to take it one day at a time. While it’s important to acknowledge the bitterness, I feel it’s also important to try to let go of it as much as possible. I try to focus on the love I have for my family and close friends. I also try to look at what I still have and what I can still do. While it’s important to also look ahead, be proactive in terms of getting equipment and help before I need it, and to prepare for end of life issues, things can feel overwhelming if I try to take that in all at once.

So breaking things into smaller pieces, trying to focus on positive things (your love for your wife and kids, e.g.), and spending time with the people who matter — that’s what you and your kids will remember about this experience.

I also believe that knowledge is power, and I try to learn as much as I can about this disease and the technologies available to help us deal with it. That’s definitely something you can get from hanging out on this forum, going to local support groups, reading, and talking to others going through this.

ALS sucks! No doubt about it. But laugh when you can. Life is too short to dwell on bitterness.
 

ReginaS

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How do I cope? It took me quite a while to get over the initial shock and the after-shocks. It's hard. No roadmap. I had help from friends and eventually I got myself to a good therapist. One fact that usually made me want to keep my feet to the ground was that I am not the one with ALS and if I don't get my act together I cannot be of much help. How do I do it? Often I do not know. I take a deep breath and try to do the next right thing. Detours are included and OK.
Life all at a sudden looked so different. I kept/keep telling myself that nobody promised me that 'my' version of how life should develop was how it was going to be.
 

Nikki J

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Anger bitterness and not knowing what to do next are all normal in the beginning. As Karen says one day at a time sometimes even a minute at a time. That part does get easier but none of this is easy.

Learn to accept help. Some people use lotsahelpinghands website to organize volunteers. The admins ( and if you do this get someone to be co admin a good friend, sibling maybe) post things that need doing and people sign up online. A lot of people vaguely want to help but this helps them see ehat is needed. Some people would like to cook a meal. Someone else might baby sit while you go to the doctor. Someone else might mow the lawn.

If she can speak she should record phrases at least for you and your daughter. Even if her voice is imperfect it will be meaningful. I expect Wash U has a program for communication needs but I would start today with the important ones on your phones

Again I am sorry it turned out this way
 

Chuckdobro

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This is a very humbling disease. Take all help that is offered, which is difficult for me. I always had control of my life until ALS became a part of it. One day at a time or one sock at a time is a victory for me. Please use every resource available as you will need them. I wish you and your family the best in this trying situation. God bless.

Chuck
 

Ken15

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How does everyone....cope? I feel like there's absolutely nothing good in this, other than the fact that I still have my wife and baby and family. How does one cope, and how does one ward off bitterness?
A coping mechanism that has helped me is "context". You are not alone in this fight; there are others (especially on this forum) that share your angst and bitterness; and guess what? that is a good thing, for you and me - they've been there, they've experienced the emotions, the pain and despair, and have, somehow, gotten through it all. I "lurked" here for 12 months before making my first post - during that time, I was gathering valuable information from here and other places to help anticipate what the future held as this disease progressed.

However, all that preparation and knowledge doesn't stop me from having "bitter moments". While this monster has struck your family at a relatively young age, I was 3.5 yrs into retirement (after working over 40 yrs) when the sledgehammer called ALS came down upon us. Again, I "try" to counter those moments with context - the 4 wonderful children we raised, our 7 grand children, the extensive travel we did during those early retirement years (Alaska, Hawaii, Ireland, Germany, Italy, trans-Atlantic (and other) cruises) - all help to mitigate the bitterness.

And lastly, the support and compassion from our family, friends and neighbors has been outstanding. Acknowledge that the bitterness will be there, but don't let it deter or destroy you. Your PALS and daughter are depending on you, but YOU do not have to go it alone.

Good Luck,
Ken
 
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