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Mitochondrial Disease

Posted by on Jun. 26, 2010 at 3:36 AM
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Is anyone else dealing with this?

After all of her test pretty much showing normal, the only consistent factor is high lactic acid.  It even tested high in her spinal fluid from the spinal tap, which was the final flag that it is probably a mitochondrial disorder.  Her neurologist suspected that as a possibility before, but wanted to rule everything else out.  Now we're talking about some more blood tests and probably a muscle biopsy.  He's also looking into places that specialize in mitochondrial diseases since we will be traveling to the mainland this summer for almost 3 months.

Is anyone else going through a mitochondrial diagnosis?  Or their child has been diagnosed officially?  How is/was the process for you?  Did you get referred to a special center?  Any recommendations?

Have a child with special needs?  Don't have a diagnosis?  Come join other moms of special needs children without a diagnosis at my group:


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by on Jun. 26, 2010 at 3:36 AM
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Replies (1-7):
jesmoore27028
by Member on Jun. 26, 2010 at 9:05 AM

The genetics tests that are finally being run on Jacob are looking at the mitochondria to see if there is any mututation on two different ares. The DNA got sent off last week finally so now we're just waiting to see what it shows. We were sent to our local metabolic genetics doctor and he was 2 hours away from us. From that appt came the mitochondrial question and that's when they decided to send off labs. To my knowledge for what they are testing Jacob for there are only 3 different labs to send it so maybe they are looking for something specific that only certain offices work with.

diane08502
by Member on Jun. 27, 2010 at 12:32 PM

   I live in NJ, and my son's blood tests to rule out mito were drawn at CHOP (childrens hospital of Philadelphia) and they were sent to Baylor college in Texas.   We also had the near two hour drive each way, depending on traffic, and I had to make arrangements for my daughter to be in daycare, or else drag her along for the ride.  We did some blood tests, and then we did EMG (electromylegram study), and then, we took those results and things were still not clear, so we decided to go ahead with the muscle biopsy.  Joseph also had an undescended testicle that needed to be surgically repaired, so the surgeon at CHOP, Dr Michael Nance, took Joseph into the Operating room and did the muscle biopsy and the testicular repair in one trip!  that meant one dose of general anesthesia, and one time to heal!!  Joe healed like a champ, and it took about 8 weeks, but we did get a normal answer on the muscle biopsy.   THere is some controversy about fresh or frozen specimens for the muscle biopsy, but, we went along with the procedures that Dr Richard Finkel and Dr Nance followed for the muscle biopsy.   This is highly specialized testing, and if you look up Baylor college of medicine in texas, you will find some info.   Also, look at the www.UMDF.org site, and call them with any questions you have!  another great group is www.mitoaction.org   they have lots of good info!  hope this helps, Love, Diane

diane08502
by Member on Jun. 27, 2010 at 12:38 PM

   Last summer we had the doozy of all, we had to rule out bone cancer for Joseph.  We took him to the pediatric oncologist at SLoan Kettering hospital in Manhattan, we live in NJ.   We dont know why his usually normal alkaline phosphatase (around 300) was so elevated, (6500, HOLY CRAP!!)  we repeated the blood test a couple of times, hoping it was a mistake at the lab.  We even did another MRI under propofol for Joe joe, and it was good, to look at the long bones in his legs.   It was all a false alarm, thank GOD In heaven!! that was the absolute worst thing we ever went thru, much scarier than the mito workup.    After we did the testing to rule out mito, my son was diagnosed with PVL in the left side of his brain, by his three year old brain MRI.   We did the mito workup while he was 2.  THe most common thing that mito is misdiagnosed as is CP.    Once we got the news of the PVL (holes  in the white matter) in Joseph's brain, he was diagnosed with CP.    I can honestly tell you that I am so happy that we did all of this testing, and I am happy that we are dealing with CP and epilepsy, and not mitochondrial disease or cancer!!!  hang in there, it gets better with each answer that you get!! As long as you have accurate information, you can make good decisions about how to help your kids!  Love, Diane

lifetimelove
by Group Owner on Jun. 28, 2010 at 2:35 AM

Yeah, her spinal fluid samples were sent to Baylor.  Her neurologist is now discussing with the geneticist and the endocronologist as to what test to do next.  I'm pretty sure they will do a muscle biopsy.  I'm pushing to have her seen by a mitochondrial specialist on the mainland.  Based on all the tests she's had (and there have been LOTS) her neuro believes she either has mitochondrial disease or athetoid CP, and he really doesn't believe it's CP.  I would definately prefer it to be CP, but we'll deal with what it is.

Quoting diane08502:

   I live in NJ, and my son's blood tests to rule out mito were drawn at CHOP (childrens hospital of Philadelphia) and they were sent to Baylor college in Texas.   We also had the near two hour drive each way, depending on traffic, and I had to make arrangements for my daughter to be in daycare, or else drag her along for the ride.  We did some blood tests, and then we did EMG (electromylegram study), and then, we took those results and things were still not clear, so we decided to go ahead with the muscle biopsy.  Joseph also had an undescended testicle that needed to be surgically repaired, so the surgeon at CHOP, Dr Michael Nance, took Joseph into the Operating room and did the muscle biopsy and the testicular repair in one trip!  that meant one dose of general anesthesia, and one time to heal!!  Joe healed like a champ, and it took about 8 weeks, but we did get a normal answer on the muscle biopsy.   THere is some controversy about fresh or frozen specimens for the muscle biopsy, but, we went along with the procedures that Dr Richard Finkel and Dr Nance followed for the muscle biopsy.   This is highly specialized testing, and if you look up Baylor college of medicine in texas, you will find some info.   Also, look at the www.UMDF.org site, and call them with any questions you have!  another great group is www.mitoaction.org   they have lots of good info!  hope this helps, Love, Diane


Have a child with special needs?  Don't have a diagnosis?  Come join other moms of special needs children without a diagnosis at my group:


www.cafemom.com/group/undiagnosed


 


karamille
by Member on Jun. 29, 2010 at 1:14 AM

Our genetist was not the friendliest person in the world, but definitely the most helpful/insightful of all the speciliast we have seen.  Ike has NF1... but we are pretty sure its overlapping with something else yet to be determined.  Looks at lot like noonan but that one came back negative.  they want to do a microarray but its soo expensive and we are still trying to pay for the last round of tests that the insurance company ok'd then denied.  :P 

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lifetimelove
by Group Owner on Jul. 1, 2010 at 7:30 PM

Wow, that stinks.  This is why I'm SOO happy we're military.  We have had so many tests, no problem getting them, and we never have to worry about being covered.  She had the microarray done at 10 months, and I'm sure the spinal labs were probably over $5K, and I know the muscle biopsies they're going to do run over $10K, and no one even bats an eye.  There's a lot of criticism about military health care, but when you have a child with special medical issues, it's an amazing blessing.

Quoting karamille:

Our genetist was not the friendliest person in the world, but definitely the most helpful/insightful of all the speciliast we have seen.  Ike has NF1... but we are pretty sure its overlapping with something else yet to be determined.  Looks at lot like noonan but that one came back negative.  they want to do a microarray but its soo expensive and we are still trying to pay for the last round of tests that the insurance company ok'd then denied.  :P 


Have a child with special needs?  Don't have a diagnosis?  Come join other moms of special needs children without a diagnosis at my group:


www.cafemom.com/group/undiagnosed


 


cheer316
by Member on Jul. 2, 2010 at 12:23 AM

OMG I couldn't agree more! We would be bankrupt ten times over with all the specialists and chromosomal testing that CJ has been through. Not a penny has been paid by us and that includes his MRI, his hernia repair surgery, his AFO braces and his gait trainer which alone is 3k. We are really getting our money's worth out of them :)

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