Update - as promised

[Luke]

Hi,

I took a little break from posting but, as requested, thought I'd drop in for an update. I'd typed out one of my characteristically lengthy posts but deleted it in the hopes I can get the job done in a much shorter post. No promises, but it will be a fun challenge. Here we go.

Recap - The story began over the winter with increasing clumsiness in the hands. Girlfriend urged me to see a doctor, so I did. Learned I'd lost 20-some lbs inexplicably. Also started having reduced stamina in limbs and trouble swallowing. Got referred to neuro. EMG and strength test in limbs was normal. No EMG done for face. Minor weakness discovered in neck that I hadn't even noticed. Berrium swallow revealed epiglottal dysfunction and impaired mobility at base of tongue. Respiratory test mostly normal sitting up, somewhat abnormal lying down, though not considered clinically significant. Speech was normal. Berrium and PFT conducted a few months later showing no noticeable progression. Great. Referred to neuro-muscular specialist for 2nd opinion. Put on the 6-month "wait and see" plan.

The present - Life's been good. Got engaged, got a raise at work, and been enjoying the nice summer weather. Hands have gotten stiffer. Have a tough time opening containers, especially those with peel-off lids, like yogurt, fruit cups, etc. Weight mostly stabilized thanks to speech therapist showing me easier ways to get the food down and supplementing food intake with Boost / Ensure. Still no choking - issue confined to solid foods only. Sleeping in upright position now so been getting pretty decent rest. Did a sleep study and still awaiting results. Speech getting affected. SLurring slightly when tired, and having to focus hard not to stumble on words. Forcing myself to keep the volume normal but takes extra effort, especially by day's end. Trying to hide speech issues from family / friends as I don't want them to worry. Fortunately, the speech stuff is really minor and manageable. Good rest and good eating habits seem to help me maintain energy during the day. I haven't told the doc about these new developments because they aren't significantly impacting me yet. Maybe also out of some denial, myself. Typing on a keyboard is a bit more challenging lately and I've found the iPhone touch screen to be easier as it requires virtually no force to type. Otherwise, I'm hanging in here and things are reasonably good. I'm over the fear phase but I'm still wanting to know what exactly is causing these changes. Patience is a virtue, I guess.

OK, still cranked out somewhat of a novel, but I think I kept it focused. I'll stop by with the results of the sleep study when I hear about that. Otherwise, we'll just see what happens in the coming months. Take care.

 

[Grateful]

Congratulations on your engagement!

It does seem somewhat unlikely that ALS would present with both limbs and mouth in a short space of time but I'm sure you know the statistics.

Have you considered talking to a voice coach? Not a speech therapist but someone who trains actors. There are an awful lot of perfectly healthy performers who mumble gibberish on stage because being on stage is actually rather frightening, hence the term stage fright. One of the greatest actors ever, Lawrence Olivier, used to have buckets hidden behind various props on stage so he could throw up into them en passant.

Sometimes thinking about things in a slightly different way, or coming at them from a different angle, can be helpful, and voice coaches know all about the interactions between anxiety and speech. It might be worth a try, but whatever you do I wish you the best of luck!

 

[Tokahfang]

Congratulations! I'm glad you're living life for all its worth. That's the right decision no matter what happens.

 

[HelenL]

good to hear that you're moving forward with your life, even though you're still dealing with stuff... I keep a pair of pliers with me to open up that stuff, or have to find one of my kids to open them.

Congrats on your engagement!

 

[jamiem]

Luke, thanks for the update. Congratulations mostly on your positive attitude that has resulted in some very nice things happening for you. Hang on to the good days. I too have speech problems that intensify with fatigue. Take care and rest periodically throughout the day. Don't let yourself get run down. Jamiem

 

[Ms. Pie]

Congratulations Toots!

 

[notgivnup]

Congrdulations! Happy for both of you!

 

[st123]

Congratulations on your engagement and the fact that you're doing so well at work. I'm guessing you're still stressed, but you seem to be keeping it in perspective. Pretty impressive!

 

[panguinjen]

Congratulations on your positive attitude, engagement and that you are still working! Keep us posted on your progress!

Jen

 

[Luke]

Thanks for your kind words. You guys are golden!

 

[Luke]

I decided to schedule an appointment due to some perceived changes in my symptoms (as noted earlier in this thread) so I scheduled a visit with the specialist. The lady I saw last moved to a new location so I saw Dr. Emory at Kaiser Interstate here in Portland, and I must say, he's the sharpest, kindest, most patient and helpful doctor I've seen yet. Long story short - the good news is he does not think ALS. He agrees there is something wrong but is leaning toward an unusual myasthenic syndrome as the possible cause. I had the two standard MG tests and they were negative, but there are other forms of the disease that don't show up in those tests. He says if it is motor neuron-related, it's not something as malignant as ALS and he mentioned I have some features of Kennedy's Disease, a slower-moving and non-fatal MND, but he was far from making a diagnosis. There's a simple and reliable blood test for KD apparently, so if our research leads us in that direction, it should be easy to confirm it. Here are his exact notes from today's appointment:

1. You have a problem that includes weakness of the swallowing muscles and neck, and perhaps diaphragm. 2. There is mild foot dorsiflexor weakness and a possibility of quadriceps weakness as well. 3. Whether this represents a muscle, neuromuscular junction, or motor neuron disorder is not yet clear. You have had good studies done without a diagnosis so far. 4. I think that the best next approach will be to repeat EMG on a wider spectrum of muscles, and to perform repetitive nerve stimulation looking for a neuromuscular junction defect. 5. We will set you up for a 90 minute EMG study.

I am so relieved he's not thinking ALS, and I'm eager to continue working on this health mystery. This neuro does his own EMGs, which I think is fantastic. The EMG will be on Aug 27th so I'll post an update after that. Hopefully this post helps serve as evidence that there are all kinds of weird non-textbook things that can cause these types of issues, so to those of you also in limbo, stay positive and keep hopeful.

 

[momap53]

Sounds promising! I love it when they do their own EMGs so if they see something that concerns them, they can look farther right then and there.
Good luck!

 

[Toto's Dorothy]

Luke,

I'm glad you found a doc tor willing to look for that nee dle. Good luck to you and congratulations.

 

[Luke]

I just got the results of the home sleep study I did a few weeks ago. Turns out I'm waking up around 5 or 6 times per hour due to partial or complete interruptions of breathing. I've been referred for a more thorough study at their sleep lab to get o2 / co2 levels, etc. not sure if this is related to the neuromuscular stuff but the next sleep study should help determine that.

 

[Luke]

I had my big EMG appointment this morning. Here's what I know. Nerve conduction studies and repetitive muscle stimulation tests were normal, ruling out peripheral neuropathy and myasthenia, respectively. The EMG was quite thorough and was abnormal in several areas. He basically worked up from my feet to my face. I don't know the medical names of the muscles he tested, but the muscle controlling big toe showed some abnormalities. The muscle that lifts the foot showed abnormalities. Quads were fine. A muscle in my hand showed fibulations and fasciculations. Several muscles in my arm were basically norma. Shoulder muscle abnormal, neck and facial muscle fairly normal. I'm using the terms "normal" and "abnormal" because, aside from the specific findings in that hand muscle, this is all he really shared with me. He believes that what we're seeing is more than likely a myopathy (muscle disease) and feels it's very unlikely to be a MND. As other doctors have suggested, he's thinking there's good reason to explore mitochondrial disease as a possibility. He feels this way because the EMG findings were rather unusual in their pattern, with some muscles showing issues and others appearing healthy, and because I have a degenerative form of gradual blindness often associated with mito diseases. The next step is likely a muscle biopsy, but he's going to discuss today's findings with the other movement disorder specialist I've been working with. Also on the diagnostic horizon is the overnight lab sleep study. In fact, I need to call them today and see what the hold-up is - that was supposed to have been scheduled already. Anyhow, that's the latest news.

While it's too soon still to draw big conclusions from this, it's looking less likely that I'll be finding a home here on the ALS boards. That being said, it sounds like some of the challenges I may face in the future will overlap with some of yours, so I may still hit you up for support / advice. Thanks - I hope everyone's week is off to a good start.