Bulbar Onset? So much love and respect for those on these forums

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Jeeproteins

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Hello all,

I just wanted to start off by saying I have the utmost respect for all those in these forums I have been lurking in for weeks.

For the past few months I have been experiencing symptoms that have gotten steadily worse. In the last month especially, I have declined the fastest.

I'm only 29 years old, and I have been blown off by my general neurologists for months.

I was hospitalized in January for numbness and left side weakness. My EMG (left side only) , MRI, spinal tap and labs were all clean then. I started getting the tremor and fasisculations last month and they have gotten unbearable pretty quickly.

Unfortunately, since then I have developed clearly visible right hand atrophy (pics attached), right foot muscle atrophy (confirmed by my podiatrist), strong tremors in my tongue, chest, hands, legs, that don't let me sleep more than a half hour at a time. I believe the tremors are making me hypermetabolic, as I have been losing weight rapidly despite eating at a heavy calorie surplus. I can't walk on my right foot without pain and my right knee pops out as I walk. I have some drop foot (confirmed by podiatrist). I get cramping and pain using my hands/legs and my hands are incredibly bony now like they have never been before.

Also doubly unfortunately, I believe I have bulbar onset, as I first had swallowing problems, extreme neck stiffness and pain, dry mouth, and my esophagram showed I have esophageal motility problems already in my mid to distal esophagus.

I also have trouble speaking, with my tongue twitching and tiring quickly, and I do speak much more quietly and with slightly slurred words. My PFT was interpreted by a pulmonologist with research on respiratory function in ALS patients, and he wrote that my "The total lung capacity is less than the forced vital capacity percent predicted values by 11 percentage points, a somewhat unusual finding, but maybe related to respiratory muscle weakness, related to "paresthesias".

I know being diagnosed in a timely manner is crucial for clinical trials and time remaining. I am waiting to be seen by Cedars ALS Clinic but I have to wait until almost August.

Do you have any advice on how to get seen sooner? or anyone recommended? I just feel I am declining so quickly and it is terrifying.
 

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affected

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You can see if you can get on a cancellation list for your appointment. But if your doctors suspected something sinister and treatable they would get you in asap.
You are describing a large number of symptoms all over the place that don't sound at all like ALS.
I hope they can work it out with you soon and put your mind at ease - do go back to your PCP and discuss your fears and get help to make the most of the waiting time. Remember that you recently had a clean EMG while having symptoms, so ALS is really highly unlikely and you know this already if you have been lurking here and read the sticky post.
 

lgelb

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Second that -- a systemic condition is much more likely. An 11-point difference in a PFT on one value shouldn't send anyone to an ALS diagnosis. If the pulmo were truly alarmed, he would have referred you himself. If you have seen multiple neurologists, if only from a risk management standpoint, they would have let you know if they truly suspected neurologic disorders.

If you are losing weight, we would expect you to look more bony and an energy deficit is going to exacerbate any weakness or pains you feel. Stress, anxiety, and depression can also very much contribute to this spiral that you describe and yes, it's certainly both a chicken and egg situation.

As Tillie says, the widespread issues you describe really aren't descriptive of ALS onset. I would find a good internist and explore other differentials, chickens and eggs, while waiting for the August appointment. And consideration of counseling if only to marshal your resources would not be a bad idea, either.

Best,
Laurie
 

Jeeproteins

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Hi all,

A belated thank you for your reassurance. Just an update, I began eating a heavy surplus of over 3000 calories a day and have not been losing weight unintentionally as quickly as I noticed in May. I had a second EMG done last month shortly after my post, of my right side, and it was "clean."

I had met with a very good rheumatologist who ran a very comprehensive round of tests, all of which came back normal. He told me he believes that this is definitely neurological. He had great bedside manner and other specialists I met since, think highly of him, so I do trust his opinion.

My hand, finger, wrist pain got so severe, I saw several orthopedic surgeons for help. BTW, I have always had a high pain tolerance and rarely used painkillers in my life as I do not like taking medication. I failed the neurological exam at one, who told me this was clearly neurological and that he could not help me. The second and his associate immediately told me I had significant atrophy of my thenar, hypothenar, and intrinsic hand muscles. I have had difficulty typing since my January hospitalization, and the shakiness started shortly after that, but now I do feel as though I am losing fine motor controls. I take much longer to open my contact lens bottle, open things, pick up things. My physical therapist had me do a hand workout and my hand started shaking uncontrollably on my first try. I have always had extremely steady hands and never had any of these symptoms in my life - nor do I have any other health conditions.

I went to another podiatrist for a second opinion and he doubly confirmed my right foot muscle atrophy. I showed him how my right toe cannot flex all the way, gets "caught" and makes awful crunching noises. He stated that was because my lumbricals were wasted and that was why my joints are not as visible on my right foot due to reduced musculature. That right big toe is totally numb and the numbness is spreading out which concerns me.

Physically, the atrophy on my right hand, right foot have progressed and my primary care doctor, rheum, ortho, podiatrists are all very concerned. It seems everyone believes me and wishes they could help more, but all believe this is decidedly neurological. So many experienced doctors and even neurologists have assured me they do not believe this is functional neurological disorder (truly dislike UCLA for this lazy diagnosis), as the physical atrophy and symptoms are too obvious.

I woke up to a painful glute cramp on my right glute last week and realized I have right glute atrophy as well. My primary care doctor, when checking my tongue tremor, noted my tongue looks atrophied, as one side of my tongue is significantly lower and smaller than the other, and when I stick my tongue out, leans left. Regardless of the reason for its appearance, it has only gotten harder and harder to swallow and speak every day.

I met with a neuromuscular specialist for around half an hour and she tried me on mestinon while she waited for my MG antibody results, the special ones my rheum had not ran. I see they have been uploaded to my portal and they are all negative. She told me since my EMG was so recent, my next one would have to be at least six weeks apart.

Unfortunately, my symptoms have progressed even further in just those short weeks since. I continued to live my life, made sure to be in bed 8-10 hours a night, kept moving, tried to keep a positive attitude. My fasisculations, which never really concerned me on their own and which used to come in singles, now come continuously and all day. The primarily come on my right side, like my thenar muscle on my right hand but sometimes my left, my right glute where the atrophy is, as well as up and down my right leg, my lip/chin, and upper back.

I very normally laid in bed the other night and my hip popped out and caused me so much pain, just as my knee has been popping out as I walk. The pain which used to be my right foot, knee, and back of right knee, are now inner thigh and hip as well. I spent one day with friends visiting in town, speaking some throughout the day and taking them around to eat, go for a short nature walk, and walk universal city walk (a very short walk), and ended up slurring my words for a week straight after that one day of talking. I slur less since, but my voice has been even deeper, more nasally and hoarse ever since, which makes me a little bit sad as I really miss my real voice.

There has been an extremely painful spot on my upper left back that I felt had been "pulled" since February or so, and every day I have to stretch it out all throughout day because it is so tight, and when I stretch it it hurts and physically pushes my breath away. This spot has not improved and now I wonder if it is an intercostal muscle atrophy. My chiro has evaluated me and told me frankly he believes it is my diaphragm or rib pushing on my lung.

I understand these forums are not meant to diagnose for or against, as my pulm has warned me against listening to anyone on here for those purposes. I am posting in this detail in hopes that my progression is useful to someone later. I know this is not anxiety, psychosomatic, or depression. I have learned so much from these forums, and hope that this will become helpful to someone one way or another.
 

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Nothing like ALS. Unfortunately diagnoses don't always happen as quickly as we want, but keep working with your doctors and report new symptoms to them so they can direct the diagnostic process.
Go back to the read before posting message here too as that will help show that ALS is a disease of the brain that stops the neurons telling muscles to work. That is not what you are reporting. Please let us know when they get this worked out for you, I know it must be scary.
 

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Jeep, "I understand these forums are not meant to diagnose for or against as my pulm
(pulmonologist) has warned me against listening to anyone on here for those purposes." ?

It probably apply to your other doctors too.

Suggestion... copy and print out all your symptoms (ills) above and let your doctor
review them with you. Also, he/she then will also be aware of the previous doctors you
have seen. They are fast readers.

Hope you find the path to good health in the future.
 

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What your chiro thinks is not robust evidence of anything, nor is it significant that one specialty wants to turf to another, especially when you likely make it clear that you think your problems are neurological.

Atrophy can have many causes, of which ALS is one of the rarest.

You do understand that your hip can't literally be dislocating and going back together, nor your knee. They can certainly pop if connective tissue is weak. Were you evaluated for a connective tissue disorder? Those can cause atrophy as well.

FND is only a "lazy" diagnosis if there is no foundation to it. I can't say one way or another. What I can speak to pretty well is ALS, and neither you nor your two clean EMGs is describing it.

You might consider a consult with a physical med/rehab specialist ("physiatrist") who can evaluate the popping and noises.
 

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@igelb Thank you for the suggestion of the physiatrist - never heard of that. I may not have taken what my chiro said to heart, but I do trust the doctors who listened to what I was experiencing, without judgment. I did not get any sense they were “turfing” to neurology..they were some of the most compassionate, experienced doctors I had met throughout this process and consulted with their neurology peers before telling me their conclusions.

This is all new and scary to me, but I know my body. I may not be able to describe it technically perfectly, but I don’t think I ever used the word dislocated? I asked my physical therapist and she explained it can be several things, one of which is when some muscles atrophy, as I have been diagnosed in my hand and foot, the others are unbalanced and can cause those noises and pain as they aren’t pulling the joints together properly.

Re: your comments on FND: “FND is only a "lazy" diagnosis if there is no foundation to it”
I was told by more experienced neurologists since, including neuromuscular, that FND is a diagnosis of exclusion. I was diagnosed w/ that by a student resident in half an hour with zero testing at my first appointment following my hospitalization. She never followed up on any of the follow ups that were recommend out patient on my discharge paperwork. The neuromuscular specialist I recently met with said there’s no way she could diagnose me with that as there is no evidence for it and she was beginning to exclude, with MG. Hope that explanation helps! It’s all new to me.

I did read from PALS online that FND is one of the most common misdiagnoses given to PALS, which breaks my heart to hear. I really hope science can advance to allow a more humane and timely diagnostic process, as I really believe it can have a big impact on your outcome i.e. those who undergo unnecessary surgery as one just example.
 

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Jeep, some confusion here... third sentence of your first post.

"I'm only 29 years old, and I have been blown off by my general neurologists for months."

Then...

"I did not get any sense they were “turfing” to neurology..they were some of the most
compassionate, experienced doctors I had met throughout this process and consulted with
their neurology peers before telling me their conclusions."
 

Jeeproteins

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Thank you so much @affected will do.

I am really trying to believe it is nothing like ALS! I read that for Richard Olney, the UCSF ALS Founding Director, his first symptom was a popping knee, unstable knee, and knee pain. I feel so sad that even for him, it still took him over a year to be diagnosed. My knee pain has been getting far worse and my PT and podiatrists all have pointed out which muscles have atrophied, so I have been very nervous as the pain and weakness gets worse and my knee instability has spread to my right hip instability with no real answers.

And with my bulbar symptoms: my voice has been getting more hoarse, nasal, raspy by the day and it has never improved. When I met with my primary care doctor today it was my second doctor appointment of the day and I was getting out of breath halfway through speaking with her. All this makes me very nervous.
 

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I'm confused by your post. You say you have bulbar symptoms, and then go on to say you are out of breath. You say you have significant knee atrophy (never heard of that as a first symptom), yet do not describe function failure.

You are relying on non-doctors to diagnose you, yet will not listen to a neurologist who has twice the education. Seriously? What makes you chase ALS as a diagnosis when you have no ALS symptoms, which is an inability to do things that you once could do?
 

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Unlike Dr Olney you have had 2 normal emgs. You are clearly spending an inordinate amount of time searching please work with your doctors and let us know when you get a diagnosis of something. There is nothing anyone here can say or do to help you at this point
 

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Hi, I do not have knee atrophy. I have knee instability, difficulty balancing on right leg, and serious knee pain. Maybe knee instability/pain as it presents as a first symptom for many PALS is due to small foot and leg muscle atrophy. I have been diagnosed with small foot muscle atrophy, glute atrophy, right hand muscle atrophy. I have been told this is "early" whatever that means.

A friend shared with me that his father had bulbar onset and his first symptom was knee pain in both knees, not failure. I see Warren Osborn similarly had atrophy before clinical weakness or failure. I see many cases of PALS having normal EMGs for bulbar or respiratory onset in the beginning. So, I try to stay hopeful but understand that EMGs can look normal in the beginning.

My neuromuscular specialist does not discount bulbar onset ALS and referred me out to get a single fiber EMG, as she says this is the ultimate standard and much more specific than a regular EMG. I pray it comes back normal.

I am not looking for a diagnosis here. I am updating my progression in hopes it can help someone in a similar situation in the future.

@Bestfriends14

Correct me if I am wrong. From what I have read, many PALS describe months/even years long struggles of finding neurologists with neuromuscular or ALS experience at first, so I don't feel special in that way. I also do not think "an inability to do things you once could do" is a fair universal blanket statement for earliest symptoms of ALS, since to my understanding, it is an insidious disorder that presents totally differently in each person, especially bulbar. My worst symptoms are bulbar, and the ones that made me seek an ENT in the first place.
 

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Jee, I will correct you. ALS is an inability to do things you once could do. No, it's not a universal statement, it's how it is. ALS is a progressive disease of voluntary muscle function failure. I live this disease day in and day out as do many of our ALS acquaintances and you do not.

You seem focused on arguing your case to terminally ill people and their exhausted caregivers. My husband would give anything not to have ALS. Please count yourself lucky in that you have been cleared on more than one occasion of not having ALS. My husband was diagnosed his first EMG and you've had two clean ones. Lucky you.
 

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My husband was bulbar onset and he definitely experienced an inability to do things he once could do. Differently to how bestfriends husbands inability to do things presented, but an inability to do things nonetheless. We are not going to be argued down, or into a corner on this.

Please, just go work with your doctors, We can't be asked to back and forth through these very long threads. The people here are terminally ill, some are typing with their eyes, and many breathing by machines.
If you want your journey to help others, leave this now, and come back to report the final diagnosis. But don't continue arguing with senior members, especially with such long posts that get so confusing for everyone.
I truly wish you the best as your doctors do their job.
 
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