Update - as promised

[vickim]

Thats good news, while it does'nt give you any answers you know what it's not. Process of elimination and now you can scratch these off the list. Keep your chin up, there are alot of people on your side.

 

[ottawa girl]

Well Luke- He did not say ALS- so that's great news!

 

[Luke]

Neurogenic atrophy doesn't sound good, from what I'm reading about it. Still, here I am, nearly a year after the most overt of my symptoms presented themselves, still doing relatively well, so I guess I just count my blessings, remain thankful, and never take anything for granted. I confess I was a little disappointed that nothing obvious popped up on the biopsy. I was hoping it was some inflammatory muscle thing, something treatible, but we don't get to choose, do we? At least we have a solid picture of what it isn't. Now if only we could gain more clarity on what it is. I'm considering persuing a second opinion from the ALS clinic at our local university hospital, as I understand they have an excellent reputation in neuromuscular conditions, but I'm not sure I really need to bother, just yet.

 

[Grateful]

Luke

I tend to work on the principle that just about anything can get really nasty; it frees me to concentrate on the fact that it's not really nasty at the moment, which I find heartening.

'Carpe Diem' -seize the day- has much to recommend it!

 

[Luke]

My neuro is still considering some kind of myasthenic syndrome as a possible explanation for my symptoms, despite the negative results on all three blood tests for MG as well as the normal response to the repetitive nerve stimulation test. He says MG can occur even when these tests are normal, especially if its some kind of adult onset congenital myasthenic syndrome. While he agrees this would be quite rare, he feels it's worth me trying some Mestinon for two months to see if I get any benefit. Initially I just felt like he was shooting from the hip because he was fresh out of ideas, but I got home, did some research, and indeed MG could explain my symptoms. I found cases where people had negative blood tests and normal repetitive nerve stimulation. I also found cases where the symptoms were fairly progressive rather than the classic waxing / waning pattern usually seen in MG. Also, contrary to what I had read in the past, it looks like MG, especially cases that have gone a while without treatment, can definitely cause neurogenic muscle atrophy, so I've decided not to be stubborn and to give the Mestinon a shot. I was prescribed this drug in May but I don't think I stuck to the regime properly, mostly because I didn't feel it was the correct treatment. I'm hunble now and willing to do anything that might help. Today is the first day, and each time I take this stuff, I swear I almost feel worse. I'll stick with it and give it a fair shot, though. Anyone else have experience with this medication?

 

[Luke]

My sleep study results came in the mail. Central sleep apnea, O2 at around 92% at its lowest point, sleep efficiency at 62% with 32 arousals and 5.5 hours sleep out of the 8.5 hours the study. Had the CPAP on so no obstructive apnea events. The RT's notes say to start use of APAP machine to account for the progressing neuromuscular disease. I'd never heard of apap so I looked it up and the "A" stands for automatic. The unit sounds similar to a CPAP but it continually adjusts the pressure as you sleep. Has anyone here used an APAP? I have a one-hour appt with the RT and pulmonologist on 1/8 to discuss the results and do another PFT. They also want the SIMM card from my CPAP within 30 days -- oops! I've been a bad boy and haven't been using it... because I hate it. LOL. I'm going to start using it in the evenings while watching tv, to try and get used to it. Then I'll try to get in some nights of using it to sleep so I'm not mailing them a blank SIMM card.

 

[lotusbri]

I've been a loyal follower Luke and while I don't have anything to add, I just want to say that I'm thinking of you and that your wittiness and your positive attitude have helped me through a lot. I too am in diagnostic limbo. It's been hell for a year, but I'm trying to just take things one day at a time.

Sincerely,
Bri

 

[momap53]

Luke, I know you're glad to have the sleep study out of the way.

I think a few forum members use an AVAPs machine. Rose is one.

My understanding is that some insurance companies will not pay unless the SIM card shows enough documented use. It will pick up if the machine is being actively used as opposed to just being turned on.

Nasal pillows, a good book or movie helped me to make the transition to using my BiPap. Good luck!

 

[vickim]

I have been on the mestinon for a couple months and it has helped alot. I still have bad days where I can't do all that I would like, but overall it has been a great help. My doctor said it doesn't work for everyone. I am glad it worked for me. I hope it helps you. I take one 60mg pill 3 times a day. Good luck!

 

[lovelily]

Hi Luke....The hardest part of the disease process is waiting. I had 3 muscle biopsies, + a nerve biopsy before they called me a " very complicated case. " Wonderful. After the final biopsy and 5 pages of explanation, they came up with a suggestive of " Myofibrillar myopathy. "

I went in for a biopsy of my bladder recently, and the anesthesiologist asked about medical conditions. When I told about this certain one, she was pretty curt with me. Said she never heard of it, and looked at me like I had two heads.

I still don't feel as if they have my whole issue down pat.

This is about 6 years for me. I hope they can help you sooner than that.

be well!

 

[Luke]

Lily,
That's a long time for sure. What sort of prognosis does that condition carry? I haven't read through your earlier posts yet but will do. One thing we now know is that I don't have a myopathy and that there's evidence of mild neurogenic atrophy, so I think we've narrowed it down to some kind of neurological issue. Given the biopsy results, abnormal EMG findings from head to toe, normal nerve conduction studies and bulbar involvement, I personally believe the condition is involving motor neurons, but I agree with the docs it doesn't look like ALS. I'm really intrigued by something called CTE as the clinical picture closely resembles my experience and I feel I've had several of its risk factors. Whatever I have, it's still relatively mild and slow-moving, thankfully.

 

[Luke]

Question for those with swallowing difficulties due to weakness, ALS or otherwise. I have trouble with solids, especially dense foods like meats. When I initiate the swallow, the food often juts to the right, toward the back of my soft palette, where it remains. I swallow repeatedly, tuck my chin and try flushing it down with water, but it won't budge. After a few hours I start to get a bad taste in my throat, and I fear also a corresponding bad odor too. Brushing, flossing and mouthwash do nothing, as the issue is beyond the oral cavity. Also, my right ear pops, plugs and rings after every meal, and my right sinus is continually congested. The berrium studies showed general weakness and poor coordination of swallowing muscles, some pooling of liquids in the volecula and reduced movement of the base of the tongue, but it didn't really capture the issue I'm describing. My issue isn't as bad with small little bites but is bad with actual meals, worsening as the meal goes on. I've insisted on a thorough ENT exam and it's scheduled for a couple weeks out, but in the meantime I thought I'd see if anyone else has this issue and if there's a way to treat it. Thanks

 

[Grateful]

Luke

I'm sorry that it continues to mess you up in new and inventive ways; I hope the ENT people get it sorted but in the meantime I think you need short term practical methods.

Obviously when you are at home you can choose food which is mushy; things like minced meat in gravy with mashed potatoes and soft cooked vegetables, or fish pie. I don't know what options are available at work but most places do soup; I realise this isn't very thrilling but that's not the current goal.

I use the plastic bottle and prepared sachets to flush my sinuses, as recommended by my ENT specialist; the ear popping sensation suggests that the Eustachian tube is partially blocked which fits with a sinus problem. Is it possible that you have an infection which might be improved by antibiotics? There are bacteria which smell particularly unpleasantly whereas one would not expect cooked meat to start to smell really nastily in the space of a few hours. An abscess, for example, may partially clear by the pressure of food on it but rebound as the bacteria continue to reproduce.

I do hope that this didn't mess up your holiday celebrations too much and that you get it sorted out soon!

 

[laurel]

Luke a neighbour had a myasthenic syndrome called Eaton-Lambert Syndrome (many A L S like symptoms). Very difficult to d i a g n o s e from what I recall. My husband uses the ADAP. Really likes it compared to the CPAP and it adjusts the pressure versus just using a prescribed pressure. He has had it for more than a year. But it is similar to get used to i.e. finding the right mask, trying to sleep with hoses etc.

Laurel

 

[Luke]

Thanks for the thoughtful posts, Grateful and laural. This "feature" of my swallowing problem has been present since this all began, and my right sinus has been this way for years. In fact, as long ago as 2006 I became unable to tolerate flying, as my right ear cannot regulate the pressure properly. After flying home from a trip back then, I had to head right into urgent care. I haven't flown since, and now even elevator rides and hilly rides in a car cause me trouble. These are all things I plan to address at the ENT appt.