Friday, January 8, 2010

New Neuro

For us most doctor visits cause a sense of dread instead of happiness. It means we have to try and explain, maybe show "tricks", and get the physician to not only believe how we are feeling, but to truly understand it because it is unlike anything they have ever seen.

I was scared to death to meet a new neurologist. But things changed when she introduced herself. She started out by saying "I read and researched your whole chart that your doctor gave me." How many doctors read and research anymore?

Anyway, it was a great appt. She listened, didn't try and explain things away before I could tell her and actually assessed things the way it should be done.

She scolded me for driving... well, gotta do what ya gotta do... She scolded me for not using the walker (or even going to get it... hehe) And said that I need to at least use a cane. She wants me to restart PT, but with a different goal in mind: energy conservation and gait training. She also wants the therapist to do a full assessment of my muscles and see just how weak they are. She said I have significant weakness on the right and that I drag my right foot.
So, essentially her thoughts are that there is something more going on than we originally thought. She said there are several different things that fit the symptoms, but not many that fit "all" of the symptoms.

The first direction she wants to investigate is a Mitochondrial Disease. She drew enough labwork that I thought I deserved a cookie and some juice afterwards. If the mitochondria of the cells are defective there will be excesses of certain biproducts like lactic acid and pyruvate and that will show up in the blood work. The last step would be a muscle biopsy.

She scheduled me for an EMG for the 19th and then a follow up appt to talk about blood work and EMG on the 25th.

Mito is not something I was expecting. Usually it is seen in children, diagnosed at young ages when they are failure to thrive and weak. But, some of the things I have read says that if the mitochondria DNA mutates you may not show signs of it until enough cells have been affected by the mutation that symptoms occur.

We didn't discuss details of if the results are positive, because there are so many different kinds and the treatment, if there is one, depends on the type. She simply said depending on the type treatment would be replacing what is missing like amino acids. She did make a point to say that with Mito energy perservation is most important so you don't go into an "energy crisis". It all goes back to anatomy and physiology. The mitochondria are the "power houses" of every single cell in your body. They take the products of the food you take in and convert it into the "energy" ATP that your body uses to perform just about every single function. They also do a lot of other things, but that is the biggy. So, depending on the defect will depend on what symptoms you have, Almost all are progressive, it's a matter of can it be treated adn how quickly does it progress and what is being affected. It can be genetic, most occuring as a sex linked trait, meaning it passes from mother to children.

I have decided that beyond the basic research and what I already know about Mito that I am not going to focus my attention on it right now. Not until the test results come back. I a not afraid of it. My God is bigger, after all, He did create them! But, I am an obsessor. I will obsess until something is fixed or there is nothing else I can learn about it.

So, I will keep moving forward just like I was until the results come back. I will walk with a cane. Yes Mema, I will walk with a cane... And I will try and not push my body over the limits like I usually do because if it is Mito, that could result in trouble breathing.

By the clinical definition I am not depressed, but I must confess that I am a little sad that we cannot do the things that we love to do so much because I cannot do them... We will prevail, God has shown me time and again that He is there for me and this time is no different.

Oh, maybe I can get one of those canes that's a sword inside!! hehehehe.
God I need to have some fun!!!!


  1. So pleased to read that the 'new' consultant was not at all scary. Completely agree on the not investigating the 'm' (had to put that as can't spell it) scenario until tests are back. Lactic acid build up even due to lack of mobility generally is painful at the best of times. So am keeping my bendy fingers crossed for you that you are approaching a diagnosis where pro-active intervention will start to make you feel better.

    For no known reason I have one side weaker than the other. Phyio's have always commented on it as have other medical professionals (my mother always put it down to 'being so premature'. Interestingly its on the side that my club foot was on so I expect I favour one side or something.

    Proper gait analysis can be extremely helpful as it can be the cause of much pain in the EDS body and poor gait is common in those with EDS. So literally a very bad pain in the neck can be attributable to poor gait, a good orthotic can literally help people's pain dramatically and also really assist with lessening falls. My daughter and I have very thin EDS skin so cannot tolerate hard orthotics and bracing also to straighten out can be problematical as thin skins rips.

    I really really agree with the introduction of a regime to help prevent what I call burn out. It sounds similar to a pain management course which as you know I never stop nagging you about!

    Wishing you well and hope you get some laughs soon. Seeing the picture of sticks made me think perhaps a beautiful one would encourage you to use?

    Pleased for you that the appointment was with a human being who had taken the trouble to really do the background reading.

    Lets hope the future gets brighter. I really feel a corner is about to be turned ....

    Take care of yourself and thanks for posting to say how things went.

  2. Thanks so much!! I like how you put that "the M word". I must confess the M word does scare me a little, not for me, but for my kiddos, for our family unit. I've always had this crazy pain that I could only describe as when you work out to much and you build up "lactic acid" in your muscles. It's usually behind my arms. Anyway, one of those "ohhhh..." moments. I promised myself I would not obsess about it, but I can't help to think that my son Josh (3 next month) was born with low birth weight, had failure to thrive and was floppy, poor eating with vomiting, poor growth, and developmental delays until last year. He may be a bit behind in some things like speech or what not right now. You know how it is "he's a boy" is what everyone says. I don't care if he's a boy or a mutant, he should still develop on time if everything is ok... And for heavens sake, I would never wish "the M word" on him for the life of me, but the nagging in the back of my heart says that it fits his whole childhood as of so far. He's a bit weak. Blamed that on the EDS, but who knows. ANyway, drifting away from those thoughts and back to waiting for test results.

    I have been sooooo tired these last few days. beyond the norm. layed in bed and slept, not like tired sleep, but like utter exhaustion, in and out of consciousness sleep from 10 am until 3 pm, and that was after a full nights sleep... sheesh.

    I'm sure the funny will come back eventually, even if it has to figure out a way to work around pain and degression.

    Thanks for being my friend and understanding far more than I even do from so far away!