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Mitochondrial Disease

Messages
48
Location
Ohio
its looking more and more like my son and I are actually suffering from mitochondrial disease of some sort. My stroke-like hemiplegic migraines, and his icepick hemiplegic migraines combined with his learning difficulties, and neurological symptoms point heavily toward this unfortunate outcome. Does anyone think the research Ron Davis and those at OMF would benefit those with this condition? Or am I hoping for a cure that is impossible to come by?
 

AdamS

Senior Member
Messages
339
This may interest you:

http://www.meassociation.org.uk/2015/10/25542/

The results revealed 3% fiber-ragged blue and a severe deficiency of complexes I and IV and several mtDNA variants. Mother, sisters, and nephews showed similar symptoms, which strongly suggests a possible maternal inheritance. The patient and his family responded to treatment with high doses of riboflavin and thiamine with a remarkable and sustained fatigue and muscle symptoms improvement.
 
Messages
48
Location
Ohio
Hey. Have specialists ruled out the known mitochondrial diseases?
No, unfortunately both hospitals near us (we went to two neurologists) said they wouldn't want to do any testing unless he is having seizures or experiencing syncope. The genetics department at his hospitals have a two year wait for appointments. Which is maddening. My hospital doesn't have a genetics department or any mito specialists, and my neurologist basically said I am beyond him and that I should go to the Cleveland Clinic (I live in Ohio) but my insurance refuses to let me see anyone outside the hospital system in our town....I've never felt so trapped/scared in all my life.
 

pattismith

Senior Member
Messages
3,925
@Awags1986 , I feel sorry to hear that you are not supported in this need of testing you and your son for mito disease.

I understand your fight, as I also need this eventuality to be ruled out.

Several PR members here ended with a diagnostic of mitochondrial disease or myopathy, because CFS/ME is a known syndrome in some mito diseases.

If you do a search on PR with "mitochrondrial" or "myopathy", you may find something that will be of interest for you.

@BeautifulDay was very kind to share with us her story (and family), and to give us a kind of guideline to help to get a diagnosis.

I followed her advises and found 4 dubious mutations in my mitochondrial DNA (from 23andme datas) that could be involved in my illness.

I know it is not enought to convince any doctor because these mutations are not known, so I am currently trying to test my mother to see if these mutations are hereditary, or acquired.

Here the story she shared with us, where you could find inspiration:

http://forums.phoenixrising.me/inde...und-to-be-due-to-mitochondrial-disease.53978/
 
Messages
48
Location
Ohio
@Awags1986 , I feel sorry to hear that you are not supported in this need of testing you and your son for mito disease.

I understand your fight, as I also need this eventuality to be ruled out.

Several PR members here ended with a diagnostic of mitochondrial disease or myopathy, because CFS/ME is a known syndrome in some mito diseases.

If you do a search on PR with "mitochrondrial" or "myopathy", you may find something that will be of interest for you.

@BeautifulDay was very kind to share with us her story (and family), and to give us a kind of guideline to help to get a diagnosis.

I followed her advises and found 4 dubious mutations in my mitochondrial DNA (from 23andme datas) that could be involved in my illness.

I know it is not enought to convince any doctor because these mutations are not known, so I am currently trying to test my mother to see if these mutations are hereditary, or acquired.

Here the story she shared with us, where you could find inspiration:

http://forums.phoenixrising.me/inde...und-to-be-due-to-mitochondrial-disease.53978/

Thank you so much for this!!! It will help a lot :) I have been so worried about my son and I. I do think he has dysautonomia, but the doctors don't even want to test...I don't get it :(
 

Eastman

Senior Member
Messages
526
@Awags1986

According to your introduction post, your problems started soon after having your son. Considering that pregnancy places additional nutritional demands on the mother, what do you think is the probability that you became nutritionally deficient during your pregnancy?

According to Dr Derrick Lonsdale, beriberi is the "prototype of autonomic dysfunction" and is caused by an imbalance between ingested calories and the vitamins required for their oxidation, particularly thiamine or vitamin B1.

Symptoms of thiamine deficiency include fatigue, irritability, tachycardia, chest pain and abdominal discomfort. See here and here for other symptoms.

Chronic migraine has also been successfully treated with thiamine and may be an early symptom of Wernicke's encephalopathy, a condition known to be caused by thiamine deficiency.

Methylation supplements have been reported by some members here to produce symptoms of thiamine deficiency. See this post and the links therein.

Incidentally, the case study mentioned in an earlier post used thiamine and riboflavin to relieve symptoms that resembled those of CFS.
 
Messages
48
Location
Ohio
@Awags1986

According to your introduction post, your problems started soon after having your son. Considering that pregnancy places additional nutritional demands on the mother, what do you think is the probability that you became nutritionally deficient during your pregnancy?

According to Dr Derrick Lonsdale, beriberi is the "prototype of autonomic dysfunction" and is caused by an imbalance between ingested calories and the vitamins required for their oxidation, particularly thiamine or vitamin B1.

Symptoms of thiamine deficiency include fatigue, irritability, tachycardia, chest pain and abdominal discomfort. See here and here for other symptoms.

Chronic migraine has also been successfully treated with thiamine and may be an early symptom of Wernicke's encephalopathy, a condition known to be caused by thiamine deficiency.

Methylation supplements have been reported by some members here to produce symptoms of thiamine deficiency. See this post and the links therein.

Incidentally, the case study mentioned in an earlier post used thiamine and riboflavin to relieve symptoms that resembled those of CFS.

Do you suppose I need to take more than what is in my b-minus pill? (25mg) I've been taking that for almost 2 months without much improvement at this point, but do you think that's enough to fix any deficiency I may have had?
Edit: forgot to mention the b-minus also has 20mg riboflavin.
 
Last edited:
Messages
48
Location
Ohio
You might also look into "mitochondrial cocktail" supplements. There are various formulas to fit individual needs. @BeautifulDay may be able to give you specifics, CoQ10, carnitine, magnesium, and d-ribose might be a start. And B vitamins.
I did just purchase some coQ10, and have been taking magnesium. I will look into adding the others as well. How does one determine dosages? Do they typically go by body weight?
 

Eastman

Senior Member
Messages
526
I think most of the members on the forum who reported thiamine deficiency problems after taking methylation supplements were already on some form of B complex supplement.

I think 25 mg of thiamine is sometimes given intravenously, but therapeutic doses taken orally are more likely to be in the order of a few hundred mg.

One of the forum members have been providing updates on his treatment with B1 starting here that might give you an idea of the dosages involved.
 

BeautifulDay

Senior Member
Messages
372
I did just purchase some coQ10, and have been taking magnesium. I will look into adding the others as well. How does one determine dosages? Do they typically go by body weight?

A few quick notes - I'm scatter brained this morning. If I was you, I'd fight to have your son looked at by Dr. Bruce Cohen (or someone on his staff) at the Mito Clinic at Akron Children's Hospital. https://www.akronchildrens.org/cms/doctors/bruce_cohen/
Dr. Cohen is absolutely fabulous, smart, caring ...... Never gives up ....... He's not our doctor, but I've seen him speak at several conferences, and I've spoken with him on two occasions. I've also spoken with people that take their children to see him. He is the gold standard doctor to see in Ohio.

I fought my insurance company and won when they said I couldn't go out of network and they finally allowed it. It took getting through their lies, misinformation, hangups and disconnected calls, and learning their confusing terminology to get it approved. Most important record every call with your insurance company (make sure to record both sides and let each person you speak with know that you are recording the calls). But it was well worth it. Yet, it was hell to get through.

Who is your insurance company? Some are much worse. Our current one has been excellent. Thank God we changed insurance companies.

What type of plan do you have? PPO, HMO ...

Do you have to see a certain network or is there a list of doctors from which to choose?

99.9% of insurance policies have a note stating something to the effect that if you need a specialist and there is none in network, or if you can't get into see any doctors in network because they are backed up for a year, you can get approval to see a doctor outside of network.

It's very important to find that piece within your policy. Part of it is layers. They'll give you a one page policy. Then you'll find that there are supplemental pages to the policy. You should fight to get all of that.

Once you get the exact language in your policy that allows for a loophole to see doctors outside your network, then find out what backup you need to put in front of your insurance company. For example, I told them which doctors told me to go to see the specialist. I gave them the list of all the doctors they suggested seeing for this who specialize (very short list and were in my network) and all of them were more than a year out or not accepting new patients. Very unacceptable.

Then I had to keep calling, pushing through all the lies. And then 10 million white hairs later, I got to go out-of-network at in-network prices.

I'd say with your symptoms, it's good to get the possibility of MitoD looked into. If it isn't, then you can check that off your list. Be sure to include the language where you and your son both have symptoms in three or more organ systems and list them all out. Then back it up with all the studies and hospitals that say, check out with Mito specialist if symptoms in three or more organ systems.
 

Learner1

Senior Member
Messages
6,305
Location
Pacific Northwest
I did just purchase some coQ10, and have been taking magnesium. I will look into adding the others as well. How does one determine dosages? Do they typically go by body weight?
At the United Mitochondrial Disease Conference last year, I heard that some patients are on as much as 24g a day of CoQ10. That's a lot, but you might start at 200mg and work up and see if you notice any improvements.

I saw Bruce Cohen speak, he seemed pretty good. One note is that he was off on carnitine - I asked him why and he seemed to refer to one bad study done on vegans that said carnitine might cause heart disease due to TMAO production. Carnitine can be very beneficial, and its worthwhile to make sure you have a healthy gut and the TMAO issue shouldn't be a problem.

In general, I found the mito docs to be ignorant of diet and nutririon at the conference. It just makes a lot of sense, though, that compromised people may have additional nutrient needs, especially when most people live off a nutrient poor diet surrounded by toxins. Optimizing nutrients is a key to wellness, especially with mitochondrial issues.
 
Messages
48
Location
Ohio
At the United Mitochondrial Disease Conference last year, I heard that some patients are on as much as 24g a day of CoQ10. That's a lot, but you might start at 200mg and work up and see if you notice any improvements.

I saw Bruce Cohen speak, he seemed pretty good. One note is that he was off on carnitine - I asked him why and he seemed to refer to one bad study done on vegans that said carnitine might cause heart disease due to TMAO production. Carnitine can be very beneficial, and its worthwhile to make sure you have a healthy gut and the TMAO issue shouldn't be a problem.

In general, I found the mito docs to be ignorant of diet and nutririon at the conference. It just makes a lot of sense, though, that compromised people may have additional nutrient needs, especially when most people live off a nutrient poor diet surrounded by toxins. Optimizing nutrients is a key to wellness, especially with mitochondrial issues.
That makes complete sense. I did start at 200mg about 3 days ago. We shall see!
 
Messages
48
Location
Ohio
A few quick notes - I'm scatter brained this morning. If I was you, I'd fight to have your son looked at by Dr. Bruce Cohen (or someone on his staff) at the Mito Clinic at Akron Children's Hospital. https://www.akronchildrens.org/cms/doctors/bruce_cohen/
Dr. Cohen is absolutely fabulous, smart, caring ...... Never gives up ....... He's not our doctor, but I've seen him speak at several conferences, and I've spoken with him on two occasions. I've also spoken with people that take their children to see him. He is the gold standard doctor to see in Ohio.

I fought my insurance company and won when they said I couldn't go out of network and they finally allowed it. It took getting through their lies, misinformation, hangups and disconnected calls, and learning their confusing terminology to get it approved. Most important record every call with your insurance company (make sure to record both sides and let each person you speak with know that you are recording the calls). But it was well worth it. Yet, it was hell to get through.

Who is your insurance company? Some are much worse. Our current one has been excellent. Thank God we changed insurance companies.

What type of plan do you have? PPO, HMO ...

Do you have to see a certain network or is there a list of doctors from which to choose?

99.9% of insurance policies have a note stating something to the effect that if you need a specialist and there is none in network, or if you can't get into see any doctors in network because they are backed up for a year, you can get approval to see a doctor outside of network.

It's very important to find that piece within your policy. Part of it is layers. They'll give you a one page policy. Then you'll find that there are supplemental pages to the policy. You should fight to get all of that.

Once you get the exact language in your policy that allows for a loophole to see doctors outside your network, then find out what backup you need to put in front of your insurance company. For example, I told them which doctors told me to go to see the specialist. I gave them the list of all the doctors they suggested seeing for this who specialize (very short list and were in my network) and all of them were more than a year out or not accepting new patients. Very unacceptable.

Then I had to keep calling, pushing through all the lies. And then 10 million white hairs later, I got to go out-of-network at in-network prices.

I'd say with your symptoms, it's good to get the possibility of MitoD looked into. If it isn't, then you can check that off your list. Be sure to include the language where you and your son both have symptoms in three or more organ systems and list them all out. Then back it up with all the studies and hospitals that say, check out with Mito specialist if symptoms in three or more organ systems.
Wow!! So much great info, thank you. I actually called Dr Cohens office yesterday to talk to my sons doctor (she works there too) but they told me I have to talk to her first because he's been seen by her and she can potentially run things by him....fingers crossed :)
 
Messages
48
Location
Ohio
A few quick notes - I'm scatter brained this morning. If I was you, I'd fight to have your son looked at by Dr. Bruce Cohen (or someone on his staff) at the Mito Clinic at Akron Children's Hospital. https://www.akronchildrens.org/cms/doctors/bruce_cohen/
Dr. Cohen is absolutely fabulous, smart, caring ...... Never gives up ....... He's not our doctor, but I've seen him speak at several conferences, and I've spoken with him on two occasions. I've also spoken with people that take their children to see him. He is the gold standard doctor to see in Ohio.

I fought my insurance company and won when they said I couldn't go out of network and they finally allowed it. It took getting through their lies, misinformation, hangups and disconnected calls, and learning their confusing terminology to get it approved. Most important record every call with your insurance company (make sure to record both sides and let each person you speak with know that you are recording the calls). But it was well worth it. Yet, it was hell to get through.

Who is your insurance company? Some are much worse. Our current one has been excellent. Thank God we changed insurance companies.

What type of plan do you have? PPO, HMO ...

Do you have to see a certain network or is there a list of doctors from which to choose?

99.9% of insurance policies have a note stating something to the effect that if you need a specialist and there is none in network, or if you can't get into see any doctors in network because they are backed up for a year, you can get approval to see a doctor outside of network.

It's very important to find that piece within your policy. Part of it is layers. They'll give you a one page policy. Then you'll find that there are supplemental pages to the policy. You should fight to get all of that.

Once you get the exact language in your policy that allows for a loophole to see doctors outside your network, then find out what backup you need to put in front of your insurance company. For example, I told them which doctors told me to go to see the specialist. I gave them the list of all the doctors they suggested seeing for this who specialize (very short list and were in my network) and all of them were more than a year out or not accepting new patients. Very unacceptable.

Then I had to keep calling, pushing through all the lies. And then 10 million white hairs later, I got to go out-of-network at in-network prices.

I'd say with your symptoms, it's good to get the possibility of MitoD looked into. If it isn't, then you can check that off your list. Be sure to include the language where you and your son both have symptoms in three or more organ systems and list them all out. Then back it up with all the studies and hospitals that say, check out with Mito specialist if symptoms in three or more organ systems.
I forgot to answer some of your questions earlier...we have what's called an EPO I guess? Exclusive to the hospital my husband works for. It's through medical mutual of Ohio. I find it an insane video Flickr of interest for a hospital to have their own insurance plan like that....it's such a pain. Going to apply for the ACA actually....hopefully it's affordable and easier to get things approved.
 

HowToEscape?

Senior Member
Messages
626
@Awags1986

"Going to apply for the ACA actually....hopefully it's affordable and easier to get things approved."

Wouldn't count on that. From what I've seen, ACA policies are more restrictive than employer policies, and many don't pay (and thus are not accepted) anywhere that doesn't fit in a tight bureaucratic box. A doc here who does specialize in us (did, he is retiring) has been trying to recruit young MDs into the field. Once they find out there's no way to bill for our condition, they give up. When bureaucrats dictate what's "good for you" we get results like GET, CBT and MUPS.
 

Creachur

Guest
Messages
51
Dr. Cohen is absolutely fabulous, smart, caring ...... Never gives up ....... He's not our doctor, but I've seen him speak at several conferences, and I've spoken with him on two occasions. I've also spoken with people that take their children to see him. He is the gold standard doctor to see in Ohio.

If anyone is interested in reading an introduction by Dr Cohen on mitochondrial disease then I can recommend this classic article. It is slightly dated and changes may have occurred since it was first published in 2001.

"Mtochondrial cytopathy in adults: What we know so far" (link to full document).