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Madalot wrote:Dr. J is one of the nicest people I've ever met, so he stayed calm, but you could tell he was very angry. He left the room and apparently told a colleague that another one of his patients had been the "victim" of the bureaucratic nonsense and had not gotten what they needed.

By the time I left yesterday, Dr. J had spoken to Dr. H and gotten Dr. H to commit that he WOULD see me and was working on expediting getting me an appointment.

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Whatever disease/genetic defect is causing my problems is NOT obvious, but something occurred to Dr. J and he asked if there was any way we could stay and have some testing done. We hadn't planned on it, but they could do the tests yesterday so we changed our plans and stayed.

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It was a very LONG, but productive day, with Dr. J taking a lot of time with me and really thinking & working on trying to help me feel better. At 5pm (after being there since 7:30) he gave me my marching orders and the last thing he said to me was "Call me in 2 weeks and let me know how you're feeling and what is going on with Dr. H. Now, you look exhausted. You need to get some sleep."

Kudos to Dr. J. And to you, Kathy, for sticking with it through a day of painful tests.

BlackSpinner wrote:Well Done Maddy!
This doctor really seems to be a keeper. You are no longer a "case" to him but a human and a challenge.

Well said, BlackSpinner.

Hey Maddy, this sounds promising! Don't know if it will help, but it might: ginger in pills or minced as a tea. I mince about 2-3 tablespoons & drop into a large mug, add Splenda (sugar if wt's not an issue), pour 14-15 ozs of boiling water, stir several times as it comes to drinkable temperature. When done, I typically add more sweetner and water, drink it, then chomp most of the ginger which by then doesn't have such a strong bite. Ginger's a traditional remedy for pain. I get my ginger from a local Asian food market as it's half the price as the grocery stores around here and it's much fresher. I also mince ginger and garlic and use to flavor sauteed veggies.

My thanks and appreciation to everyone for their kind words and support. Dr. J is being very careful and has asked me NOT to get my hopes up too much, but I AM more positive and optimistic that he may be on to something and it might be possible to get some improvement (any improvement would be welcomed and appreciated). I'll post when I get word on an appointment to see Dr. H about the sleep issues.

EO_123 wrote:I'm glad that you now have your doctor's attention. Your situation sounds eerily familiar to me. I don't know much of your history, but are you familiar with the symptoms of mitochondrial myopathy? My husband has this, but with an unconfirmed diagnosis. It impacts people in a variety of ways and degrees of severity and is very very painful and difficult to diagnose. He also is tired all the time (but I'm signing him up for a sleep study!)

My history is so long, but summarizing it: I've been weak all my life, but it went unnoticed until I was 38 when a doctor felt my weakness was NOT normal. Thus began the long journey of neurologists and testing. The weakness continued progressing and about 3 years later started to become disabling. I am now barely walking in my house (with a rollator) and require a power chair for any trips outside the house.

In 2009, I started having trouble breathing at night and ended up having a sleep study. There's been some "back and forth" about whether I'm suffering from sleep apnea or diaphragm muscle weakness (or both) and thus how I ended up here.

I'm on about my 5th SET of neurologists now, but my current one is one of the best and is determined to help me figure out what is going on. He believes mitochondrial myopathy is a possibility and I've had a lot of testing done on that end, but on Friday, a "lightbulb" went off and he is now thinking it's possible I may also have a myasthenic syndrome going on - either instead of or in conjunction with a mitochondrial problem.

And to have my neurologist focus on HIS end so thoroughly, but also say flat out that sleep issues ARE still going on and using his pull to get me help on that end -- it gives me a bit of hope that we can work through some of this. And I'm going to hang on and give him and Dr. H a chance to figure it out and help me.

I'm also very excited to start the new medication this week. I'm not expecting any miracles, but if we can make any better at all, it will be a gift.

It does sound like you finally have a good neurologist and you should stick with him. Out of curiosity, have you ever seen a doctor with a Muscular Dystrophy Association or been to an MDA clinic? There are dozens of conditions under the Muscular Dystrophy label, and mayasthenic is an astute observation. No matter what, getting a confirmed diagnosis is a process almost as painful as the disease itself. My husband has been sick since 2000, his presentation is different than yours, but the symptoms and frustrations are very familiar.

EO_123 wrote:It does sound like you finally have a good neurologist and you should stick with him. Out of curiosity, have you ever seen a doctor with a Muscular Dystrophy Association or been to an MDA clinic? There are dozens of conditions under the Muscular Dystrophy label, and mayasthenic is an astute observation.

This neurologist is at a major university hospital and I see him during their MDA clinic. Representatives from MDA come in and meet with every patient during their visit. I don't think I could get better care than I am getting at this point.

Dr. J's observation was OBVIOUS as he stopped talking mid sentence, got a strange look on his face, turned around to the computer and started researching something. It was almost eery the way it happened, but it was pretty obvious the thought came to him and he was excited about it.

I am really sorry about your husband -- I can very much sympathize. These diseases are frustrating when you have a firm diagnosis, but it's worse when you don't because you have no idea what to expect.

I came online, specifically looking for an update from you.............seems like good news! It's so nice when someone actually does care in the system! Congrats and good luck moving forward. You remain in my thoughts and prayers Kathy!

Mad,
This sounds promising. Thanks for the update.

Owl

Hi Maddy:

I just did a search on Myasthenic Syndrome and found an entry in Mayo's catalog of laboratory tests.

http://www.mayomedicallaboratories.com/ ... view/83369

It appears to be related to Myasthenia Gravis but is different. Apparently there are good tests to determine if that is what's going on.

Here is how Mayo goes about testing.

http://www.mayomedicallaboratories.com/ ... mg-leg.pdf

SO GLAD you are connected with a great MDA clinic! That can make all the difference! I can fully appreciate how long and frustrating the process can be! Glad the tide seems to be turning!

JDS74 wrote:Hi Maddy:

I just did a search on Myasthenic Syndrome and found an entry in Mayo's catalog of laboratory tests.

http://www.mayomedicallaboratories.com/ ... view/83369

It appears to be related to Myasthenia Gravis but is different. Apparently there are good tests to determine if that is what's going on.

Here is how Mayo goes about testing.

http://www.mayomedicallaboratories.com/ ... mg-leg.pdf

Thanks for this. I'm going to have to go through my records (when I feel up to it -- ha ha) and check, but I'm pretty sure many of these tests were done early during my diagnostic process. Because my father had a confirmed myasthenia GRAVIS, they focused on that early on and did a ton of testing for it - and hopefully a myasthenic syndrome as well.

But that was 10-11 years ago, so I don't know how much things could have changed since then.