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Previous poster - wife officially diagnosed

Blues88

New member
Joined
Mar 12, 2019
Messages
5
Reason
Loved one DX
Diagnosis
5/2019
Country
US
State
MO
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

Forum Supporter
Senior member
Joined
May 7, 2017
Messages
583
Reason
CALS
Diagnosis
05/2017
Country
CA
State
Alberta (AB)
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

Forum Supporter
Moderator
Joined
Jul 29, 2017
Messages
1,766
Reason
PALS
Diagnosis
07/2017
Country
US
State
Oregon
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

Forum Supporter
Moderator
Joined
Nov 5, 2009
Messages
7,234
Reason
Lost a loved one
Diagnosis
09/2009
Country
US
State
WA
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
 
Last edited:

Nikki J

Moderator
Joined
Mar 22, 2012
Messages
7,205
Reason
PALS
Diagnosis
04/2014
Country
US
State
MA
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

Senior member
Joined
Jan 26, 2017
Messages
569
Reason
PALS
Diagnosis
03/2017
Country
US
State
MA
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.
 
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