Blues88
New member
- Joined
- Mar 12, 2019
- Messages
- 6
- Reason
- CALS
- Diagnosis
- 05/2019
- Country
- US
- State
- MO
- City
- Saint Louis
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 sh@t 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
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 sh@t 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