momoftwo
Registered: 09/18/08
Posts: 24
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Reply with quote | #1 |
I wondered if anyone could give me some input on Mitochondrial testing.
Have you had it done?
Where was it done?
What type of testing did you do? Muscle biopsy?
Did you manage to get insurance to cover it and if so how?
Did the results give you any useful information?
My son has CVS but he also has pancreatic insufficiency with no underlying cause (like for example Cystic Fibrosis) and over the last few months has been having temperature regulation issues (he drops really really low). He also seems to have a limited amount of energy. At age 5 1/2 he still naps 2-3 hours daily and although he gives 110% at his soccer games he will then sleep for hours afterwards. It takes 24-48 hours before he seems recovered from the exertion. We did start him on the supplements and have seen some improvement.
Any information would be helpful as we decide what the next step is to take in figuring out the puzzle that is our child!
Heather
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klconner
Moderator
Registered: 06/29/05
Posts: 2,263
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Reply with quote | #2 |
I have contributed to the mitochondral study Dr. Boles is doing. It was painless, just spit in a cup for a while and answered some questionaires. I did it at Dr. McCallum's office (my CVS doc). After mine was processed they mailed my mom one of the collection cups and questionaires then had her spit and mail it back to them.
As far as getting results back and knowing how to interpret them, well that's another story. The researchers say it could take years before they have collected and analyzed the information. Of course, the fewer samples they collect the longer it will take.
kate
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"It may be one step forward and two steps back, ....I've learned that what is important is making that one step count." ~ Michael J. Fox |
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typatricksmom
Moderator
Registered: 12/05/07
Posts: 482
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Reply with quote | #3 |
Heather,
Do you think that your child's doctor would give you a referral to a geneticist or an endocrinologist? Maybe they could help determine if the testing is of benefit. There is a member of this site her name is RN Mom and she has done mito testing with her daughter. Try to personal message her and ask her opinion, that might be helpful. Also if you google Dr. Richard Boles you will see some links to the mito disorders website, and you can read some of his contributions to that website as well. Maybe this could help you determine how important this could be for diagnosis purposes. Also you may want to post this as well on the main thread, because sometimes I think people forget to look down at the mito thread.
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Linda |
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searching
Registered: 08/21/08
Posts: 82
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Reply with quote | #4 |
momoftwo,
If you are open to going to someone in the alternative fields, I know that many recognize that some people have internal heat problems (such as my daughter has) and some people are cold internally. There are herbs that address these two imbalances and they work faster than homeopathy. However, my daughter did not tolerate herbs. So I'm not sure if that is the case for all CVS'rs or due to the fact that she has developed so many food intolerances that she is like that. The good news is that there are also homeopathic remedies to address temperature imbalances and they are very tolerable to use even when on many meds. They work much slower--but they work. My daughter used to have to freeze everything she drank(slushies,iced smoothies) and she lived with a fan beside her at one point. Now she uses the fan at night and says she does not need it all night .For internal heat she was given homeopathic phosphorus. I'm not sure what they would use for internal cold--I could ask our naturalpath if there is only one homeopathic remedy or more than one.
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Doc
Registered: 07/12/08
Posts: 395
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Reply with quote | #5 |
Kate,
Regarding the spit in the cup test, is this something that my pcp could do locally and send in to contribute to this study? I suspect that I have a mitochondrial link with my CVS, and although I wouldn't get fast or definative results I would still like to feel that I have contributed somehow.
Doc
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28 yr old veterinarian. CVSer for 3 years. |
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klconner
Moderator
Registered: 06/29/05
Posts: 2,263
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Reply with quote | #6 |
The surveys and collection kit was mailed to my Mom in NC and she simply followed the directions and mailed it back. Simple as that. I did it at Dr. McCallum's office.
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"It may be one step forward and two steps back, ....I've learned that what is important is making that one step count." ~ Michael J. Fox |
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moontears
Registered: 09/11/08
Posts: 10
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Reply with quote | #7 |
My husband also submitted a saliva sample while at McCallum's office in June. My understanding is they would mail surveys and collection kits to those who might be available to submit to the study.
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Amy - Loving wife of Jeff, CVS sufferer. |
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momoftwo
Registered: 09/18/08
Posts: 24
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giz9
Registered: 07/11/09
Posts: 39
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Reply with quote | #9 |
I thought mitochondrial testing required a muscle biopsy.?.? Am I ignorant or just stupid?
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Life is a neverending purgatory interrupted by periods of intense agony.
If it’s true that our species is alone in the universe, then I’d have to say that the universe aimed rather low and settled for very little. --George Carlin |
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ginny
Moderator
Registered: 03/18/05
Posts: 1,772
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Reply with quote | #10 |
It is not currently possible to diagnose all mito diseases. Try the US mito web page, united mitochondrial disease foundation. Loads of excellent information and there is a message board where you can read questions and answers between patients and doctors. Our CVSA Medical Advisor Dr. Richard Boles is one of the participating MDs.
CVS might have a mito dysfunction connection. I don't think that the doctors feel CVS is a mito disease --but that some mito diseases have cyclic vomiting as a symptom.
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ginny
CVSA volunteer |
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smileyface
Registered: 05/16/09
Posts: 44
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Reply with quote | #11 |
Yeah Ginny is right...cyclic vomiting syndrome is usually "secondary" to mitochondrial disease. Therefore, cyclic vomiting would be a symptom (one of many) of mitochondrial disease.
As for testing, I was told by Dr. V that insurance would not cover testing for me; however, this was not the case. I saw a geneticist who took mtDNA blood studies, lactate enzymes, urine organic acids, plasma amino acids, and creatine kinase. None of those showed anything too interesting, but Dr. K (mitoaction doctor) has recommended that I go see Dr. C at the Cleveland Clinic for further evaluation.
While a muscle biopsy is the best test for mito, there is only a 50% chance it will show something. If it shows something, then you have a diagnosis, if it doesn't then you haven't ruled anything out. Most of the time, if they think you have mito, then they treat you for it without an official diagnosis.
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