follow-up: Mitochondrial Disease?

[SSlow]

Hi Lydia,

I ran across this post and wanted to know whom in Buffalo you saw as a Mito specialist. I am originally from there and my neurologist is there and looking into a Mito diagnosis as well.

I tried to PM you as a new member but not allowed. Hope you see this - like to PM but not sure if you can send me one.

Thanks,

AJ

 

[planningguy]

AJ,

Lydia is a pretty regular poster, so hopefully she responds soon. Also, you can try alerting one of the moderators who I believe can make PM allowances early. The main reason for the posting requirements is to shield forum members from spam and scam artists.

Robert

 

[lydia]

AJ,

I didn't see the mito-guy. There was some "protocol" that interfered soon after I posted the above...I was going to go for exercise tests where they take blood every few minutes, and then from there, armed with those results, I would go see the mito-guy. But the place where my GP had sent his previous patients stopped offering that test, so there was some complications as the office tried to sort it out; a phone-tag thing with the mito-guy ensued. It took FOUR WEEKS from my above post for my GP's office to sort things out (I was ticked at the time). Then it was Christmas and I was going away for vacation. My GP had already told me that if I was discovered to actually have a mito disorder that it could only be treated with supplements, diet, and life-style changes. So the two of us decided I would just go ahead and try the supplements over break (can't hurt!), and that is what I am still doing. At my meeting a few weeks ago with GP he said I can continue with the supplements (I had experienced some improvement) until next visit, and then we can decide if I want to bother going forward with the mito guy. He also told me that going forward did entail a muscle biopsy. Well I just can't bear the thought of that right now, so I am continuing with the supplements and will cross that bridge in another month. Whew, I didn't mean to go on and on. But I feel compelled to give the long version of a short story.

I don't remember his name off the top of my head, but I know he is well-known around Buffalo for this because even my CPAP sleep doctor brought him up to me by name...(darn, what was that name?)

If I don't remember it in the next day or so, I will call my doctor's office and ask.

Who is your neuro? I need a new one. Are you seeing a neuro in Buffalo even though you are in DC?


Lydia

 

[SSlow]

Lydia - Thanks for the update. Like many of you - seen many Drs. and probably not in the ALS ballpark but do have some overlapping symptoms (e.g. it all started with minor twitiching that has significantly progressed - however clean EMGs and over 2+ years of the twitiching has neuros thinking not ALS). Currently have many diagnoses but not one overarching one although most of my worst symptoms are in the Dysautonomia domain (i.e. dysfunction of autonomic nervous system). There are only maybe 50-75 Drs. in the US who specialize in autonomic problems and the one I see is in Buffalo. She does general neurology but has subspecialities in autonomic and migraines I believe. Only one appointment so far but liked her and would recommend. She was top of her class at UB, did residency at Mayo in Jacksonville and moved back to Buffalo maybe a year ago and is opening up a new practice (on Transit now). I'll try and get PM approval - I'll share more but hesitate too publically.

I know mito is not generally treatable but I'd like an answer. If its not mito then the differentials are pretty bad. Mito is no cake walk of course and I feel so horrible for the children who have it but its an answer possibly. Done tons of CoQ10 with no real improvement.

I would appreciate the name when you can remember it.

Robert - Thanks for your response as well.

 

[lydia]

SSlow,

I completely appreciate your reluctance to post your neuro's name online. I don't do that either. We can communicate through Al in the meantime if needed. I am waiting a call back from my GP regarding dramatically increasing my CoQ10, so I will get the name then. I know I can do it (increase dose) without his permission/blessing, but wanted his input. So I am curious about what dose you were taking...

ALS was on the table until a clean EMG of left forearm and left lower leg "cleared me". It goes without saying that it was pretty scary to have the neuro go right to that in my very first visit. The latest neuro suggests my issues are due to unconscious stress. Aggravating to go from someone who scares the crap out of you to someone who dismisses you with suggestions of antidepressants and acupuncture. How can two people interpret the same constellation of symptoms so differently? Oh well! So I am on the look out for a new neuro.

I know a mito-disorder is no "cake walk" as you put it, but considering some of the alternatives, when my GP seemed convinced this was a mito issue, I asked him "should I wish for that?" It seems do-able (comparatively speaking...)

Bye for now,

Lydia

 

[SSlow]

Yes - I've been down that river many a times.

I've taken 1200mg a day. Will probably increase.

Headed on vacation till mid-next week. Will reply on this thread then if don't have PM access - I do hesitate to post too much on forums that are google searchable. Wasn't sure what you meant by "Al". Talk to you soon - hope its not too cold! I don't miss the winters - thats for sure.

 

[lydia]

Have to smile...by "AL" I mean our wonderful forum moderator. :razz:

 

[keane]

One thing that even many neurologists don't quite understand is that adult onset mito diseases and metabolic myopathies can present with a wide array of initial presenting symptoms.

Initially, I was concerned with hand and forearm weakness, cramps and twitches. My final diagnosis? Of course: late onset acid maltase deficiency. It was only after the GAA study and 2nd biopsy came back suggesting a deficiency of acid maltase deficiency that the doctor would entertain the notion. He was so sure that this was not possible because I did not mention that climbing the stairs had gotten harder over the last 10 years.

I realized that I've had an extremely slow progression of proximal weakness for years. I attributed much of this to "middle age". For some reason, respiratory weakness is now requiring the need for night time ventilation.

I have become very pessimistic regarding those who "practice" medicine. So much depends on the proper selection of stains on the muscle biopsy, plus predictively selecting the correct location for the biopsy based on the suspected disease

 

[crystalkk]

keane,

One thing I have learned, Is most drs go by the the text book version of most diseases. You really have to talk to people that have these diseases and will learn the text book version doesn't always apply.