sorry so long! Would a microarray pick up mito? I'm trying to understand this more since I'm currently left with more questions than answers. My daughter has...
We are new to the Mito scene, too. I have two boys who have been diagnosed with Shwachman-Diamond Syndrome. You can *meet* my family on our family website:...
I am not an expert, but I was told by the genetics doctor we see that a microarray would not pick it up.. But I could have gotten it wrong! Peace be with you, ...
I think that it can pick up gene mutations associated with mito but a negetive result doesn't rule out mito.    Melanie Zavala  View Jonathan's webist...
Hi all, sorry for the need for a quick reply. The kids are having EMG and nerve conduction tests tomorrow. DD is stressing big time about it all. Can anyone...
Patti- Pyruvate is rarely elevelated on it's own- see below. If blood was drawn with tourniquet stillon (not free flowing) the result might not be accurate. ...
Thanks! Peace be with you, Pattie (mom to two boys with Shwachman-Diamond Syndrome) Help raise Shwachman-Diamond Syndrome Awareness, join the SDA cause on ...
Conventional wisdom has been that an elevated Pyruvate alone is an mistake. I would have to say that sometimes that is not correct. There are a couple of us on...
Thanks. I wonder if Dr. S will rerun the lactate and pyruvate tests when we go next week? Anyone know? Peace be with you, Pattie (mom to two boys with...
Not even sure where to start this post, so I apologize in advance if I ramble in any way. Generally, Ainsley has been having terrible GI issues since August. ...
Hi, Suzie -- I just saw your message now, so this all may be moot by the time you read it. I had an EMG last month. It was not a fun test -- not going to lie...
I had to jump in here, because we've gone through this as well and still have many questions. Our year old daughter was tested for many of the usual suspects...
Betsy - our docs never would order an arterial. They'd rather wtch over time as L/P is supportive indicator test not diagnostic. Says *something* is unusual...
Suzane can you go into more detail as Clay will be having one soon also Thanks Sharon Sent via BlackBerry by AT&T ... From: SBShaft@... Date: Mon, 09 Nov...
Our geneticist told us it may pick up a few markers but that the microarray would not rule out mito. We do not know at this point if he is going to continue...
Interesting about the mircroarray and ruling out mito. Leah just had this test done this past summer and we got the results back in September and it came back...
I would have to agree with this. My 3 sons and I all have Mito complex 1 with a mDNA mutation on ND1. My kids and I always present with elevated Pyruvate....
Hi, Sharon -- That's right...I remember reading that on the boys' Caringbridge page. There are two parts to the test. The first part is a nerve conduction...
Jen - My children and I have HEDS (Hypermobile Ehlers-Danlos). The geneticist never said anything about the HEDS effecting mitochondria. I have not come...
Hi guys! For those of you that realize I've been MIA for....well... a LOOOONG time, I thought I'd share with you our blog. Love, Krystena Richards Mito/GAII...
WHAT THE.... HEY PATTIE!!! BOY HAVE I BEEN "OFF THE SCENE" FAR TOO LONG! PLEEEEEASE fill me in when you can. I ALWAYS THOUGHT YOUR BOYS HAVE MITO. I think I...
HEY! Well…. Short version… they have bone marrow failure, SDS-like b/c they have all the clinical manifestations of SDS and bone marrow dysfunction....
To all of those who've emailed me internationally, yes I can send them internationally, I just need to calculate the postage and handling each time at the post...
Hi! I have noticed this as well. I learned this by googling my name (before I joined facebook), & some of my posts to this group popped up. I think it is...
The only thing I know of is that you can go in and delete your own posts and the TPN group I am on is totally closed- which means that you cannot search the...
 I know some of you use these strollers because they support bigger kids, so please be careful! http://www.cnn. com/2009/ BUSINESS/ 11/10/stroller....
That is why I sort of mostly stopped writing as someone years ago at son's school was looking up what I wrote. If I recall right this is a public list. Some...
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