Should i go to Mayo Clinic?

[taniaaust1]

Thanks alot for all your answers.

Sorry to confuse you all, i don't have ME/CFS.
But i also have fatigue and my brain is working slow..

I dont think no-one can tell you if a ME/CFS specialist will be able to help you at all seeing you dont have ME/CFS (but the good ME/CFS specialists do often run other tests most GPs dont but if nothing is matching up with your symptoms, they arent going to know what to look for). Obviously you have bad general health with a heavy slam of fatigue. There is a good chance you could see a ME/CFS specialist and spent lots of money but not find anything helps.

Do you have naturopaths or natural therapists in your country? If you do and you havent tried one of those, I strongly suggest to give that a go before spending money to travel out of your country which may end up not providing any answers. Bad body odour and bad smelling urine.. sounds like you are toxic or something. ..naturopath may be able to help.

The reason i dont take Accutane again is because it doesn't provide me with any answers, i already know that it can temporarily cure me (if it happens again)

I know from when I looked it up that it is a quite dangerous drug but I personally think you should try this again to see if once again it cures you. If it does again (maybe it was coincidental before, best to recheck) you know that you have found out what you got when you come across an illness in which other patients are helped by the same drug who have your symptoms (you have very general symptoms there). That could be the big clue of one day being able to work out what you have.

Accutane affects lots of things in the body (but from what I read mostly bad), it lowers white blood cells, does something wich cholestrol, messes around with the sugar or something (as it makes people more likely to get diabetes etc etc).

You could try something like the methylation protocol here and see if that helps (its a cheaper gamble then spending money to fly overseas), methylation issues can cause a lot of different problems.

 

[taniaaust1]

Symptoms, whether connected or not to GS, have been reported in a subset of those affected: feeling tired all the time (fatigue), difficulty maintaining concentration, unusual patterns of anxiety, loss of appetite, nausea, abdominal pain, loss of weight, itching (with no rash), and others,[20] but scientific studies found no clear pattern of adverse symptoms related to the elevated levels of unconjugated bilirubin in adults. However, other substances glucuronidized by the affected enzymes in Gilbert's syndrome sufferers could theoretically, at their toxic levels, cause these symptoms. [21][22]

All quotes in my comment are from wiki on Gibert's syndrome http://en.wikipedia.org/wiki/Gilbert's_syndrome

You said that the thing which cures you sometimes helps people who have Gilberts Syndrome, so I looked that up and see it can cause symptoms you mention and others (and thou those symptoms appear in Gilberts..they dont seem related to bilrubin but something else going on in that patient group. umm)

,.. Im now wondering if your doctors may of missed Gilberts syndrome or an atypical form of it. or maybe you have something going on with the enzymes which get affected in Gilbet's syndrome, the one which they theoretize at toxic levels can cause the symptoms? You may be able to find out what those are by reading the references to the comment.. maybe those can be tested???

Being dark under the eyes, many naturopaths may say that is also a sign of liver having some issues and I see liver comes into things in Gilberts Syndrome

"The enzymes that are defective in GS (UDP glucuronosyltransferase 1 family, polypeptide A1 (UGT1A1) are also responsible for some of the liver's ability to detoxify certain drugs." Also sounds like being toxic could do more so too.

Gilbert's syndrome (/ʒiːlˈbɛər/ zheel-BAIR), often shortened to GS, also called Gilbert–Meulengracht syndrome, is a genetic liver disorder[1][2][3][4][5][6] and the most common hereditary cause of increased bilirubin and is found in up to 5% of the population (though some gastroenterologists[citation needed] maintain that it is closer to 10% in Caucasian people).[2]"

Wow 10% of people, that just probably increased the chances you may have something going on with this. I wonder if you have the genes for Gilberts syndrome? (I dont know if 23andME testing could be a help for you to find that out or not. I wouldnt be surprised at all if you found out you had the genes for this).

I suggest to find a good Gilberts Syndrome forum if you havent already done so and discuss symptoms with people and see what they have to say. If I was in your shoes I'd be doing all I can to make sure there is no possible connection at all with that.

Gilbert's syndrome is characterized by a 70–80% reduction in the glucuronidation activity of the enzyme, (UGT1A1). The UGT1A1 gene is located on human chromosome 2.[25]

.........

*** Important. Get copies of all the tests any doctors you have seen have done. Ive personally found that doctors when they find abnormal stuff they dont know much about, they often ignore and and sometimes dont say anything. There may be clues in your past test results in which you werent told.

 

[Thomas]

I can relate. I'm young, too.

If you're prepared to travel half the globe, please go to the Open Medicine Institute (OMI) in Northern California. Dr. Kaufman is a wonderful doctor there and a world class expert on this condition.

Last June, I was a bedridden near-vegetable who couldn't speak and needed help getting to the toilet. Four months into treatment, I'm now able to talk to people for hours, go out to coffee with friends, and I even enjoyed New Year's Eve with family at Black Angus restaurant for 4.5 hours! I can sit up for 4.5 hours, whereas before treatment, I couldn't sit up for more than a minute. I had to be in a wheelchair at all times when I wasn't lying in bed. I don't need it anymore.

I'm alive again, and I keep improving.

I cannot stress enough how important it is to see an expert. You may send me a private message for more information about the Open Medicine Institute.

That's amazing, good for you. I have 2 questions:
1. Did your ME start after a vaccination?
2. Is the treatment you are receiving with Dr. Kaufman based on antiviral therapy?

Very happy to hear you are making such great progress.

 

[jeff_w]

That's amazing, good for you. I have 2 questions:
1. Did your ME start after a vaccination?
2. Is the treatment you are receiving with Dr. Kaufman based on antiviral therapy?

Very happy to hear you are making such great progress.

Hello @Thomas ,

1. My ME started after mono, not a vaccination.
2. Yes, I'm taking two antivirals: Valcyte and Famvir.

I'm also taking Low Dose Naltrexone, medicine for orthostatic intolerance, and many supplements backed by peer-reviewed research.

Thanks for your kind words.

 

[jeff_w]

I dont think no-one can tell you if a ME/CFS specialist will be able to help you at all seeing you dont have ME/CFS (but the good ME/CFS specialists do often run other tests most GPs dont but if nothing is matching up with your symptoms, they arent going to know what to look for). Obviously you have bad general health with a heavy slam of fatigue. There is a good chance you could see a ME/CFS specialist and spent lots of money but not find anything helps.

I'm going to respectfully disagree with this. @jamienoble , you might have ME/CFS. Your experience with Accutane doesn't rule out ME/CFS. All it tells us is that you had a remission that coincided with your use of Accutane. The Accutane may have temporarily stimulated your immune system into working correctly for a period of time. What does that mean, diagnostically? Ask an expert.

If you send all of your information to Dr. Kaufman, he will look it over and tell you if he believes he can help you. That way, you will get an expert opinion on whether or not your Accutane experience is relevant to ruling out ME/CFS. You won't half to fly halfway across the globe to find out whether or not he can help. You will get an answer without leaving your home.

 

[jamienoble]

I will definitely contact Open Medicine Institute and fill in their forms, as you say Jeff i have nothing to loose.

I think CFS is called "kronisk trötthetssyndrom" here in Sweden and its something i early on i knew i didn't have because the physical symptoms are to different. If Accutane could cure CFS many people would have reported this.
My fatigue is not as bad as yours but i still have it, also in the brain.

Do you get CFS from birth or is it something that gets worse as you are getting older?
For me it got worse as i got older, since i was 14 my symptoms has been pretty much on the same level as they are today.

My only current theories is that i either have some sort of non cancer tumour in the body that perhaps could be related to the low cortisol levels. This is something Accutane actually could "cure", but there is no doctor who believes this and i guess it seems very unlikely.

Or some sort of enzyme defect, those are the type of disease i will tell my doctors to check next, metabolic / genetic stuff but i really have no clue about how this works.


taniaaust1: As you say Accutane does alot of bad things in the body, but still, even if i take Accutane and the same thing happens again, i still cant find anyone who has had the same experience or anyone who knows what it actually cures.
I have tried most things outside taking medicine, i have taken alot of different supplements but i never feel any difference.
I even took antibiotics for 6 months without feeling any difference when i investigated lyme.
I don't think there is something similar to Accutane either, otherwise i could test that as well.
Someone has written about Accutane and methylation here: http://forums.phoenixrising.me/inde...-block-and-glycine-n-methyltransferase.26042/

Regarding Gilbert Syndrome, its possible i could have it because its kinda common but my bilirubin levels has always been normal.
I have probably never checked the UGT1A1 gene,or any of my other genes, i guess its nothing you usually do on the hospital. I will definitely mention this to my doctor next time i see him.
A few months ago i contacted a doctor who thought that i could have Gilbert Syndrome together with G6PD deficiency.
But again, related blood levels doesn't show any signs of g6pd either, triggered only when you eat certain things, especially beans.
But i think the problem could be similar, a gene / enzyme defect. Thanks alot for taking the time to write all of that!

 

[Daffodil]

Hello, im 28 years old from Sweden. I have been sick for perhaps all my life or since i was very young.
When i became around 14 years old my symptoms became fully developed and has been since then.

I have had an medical investigation going on for exactly 8 years, pretty much all my tests has been normal.
The only thing i have had low levels of all these years is cortisol, but i have had an endocrinology investigation and hydro-cortisone doesn't make any difference so it doesn't seem to be related.

The most remarkable thing about my situation is that im 100% sure that i have a disease that is treatable.
I was cured 10 years ago when i took Accutane against accne, this lasted for around 6 months.
And this is also the only thing that is keeping my hope alive..

I have no idea what kind of disease i have, it feels very hopeless..
I heard about Mayo Clinic recently and it seems many people travel to that place that is in a similar situation.

Do you think i should go there? I would need to travel half the globe and spend alot of money but if they are as good as they say they should find whatever is causing my problems.

I just cant wait for much longer, so many years of my life has just been thrown away already..

hi Jamie, no use at all going to the mayo clinic. you are in Sweden so going to DeMeirleir would be the most obvious and best choice.

Maybe you did well on Accutane cuz it has anti-inflammatory properties, who knows? Would be interesting to hear a CFS specialist's opinion on that.

xoxo

 

[jamienoble]

hi Jamie, no use at all going to the mayo clinic. you are in Sweden so going to DeMeirleir would be the most obvious and best choice.

Maybe you did well on Accutane cuz it has anti-inflammatory properties, who knows? Would be interesting to hear a CFS specialist's opinion on that.

xoxo

Hello, i will most likely not go to Mayo Clinic, but im kinda in a different situation compared to those who had a negative experience to Mayo. Most from this forum knows that they have CFS or similar and they want to be treated.
For me, i have no idea what is causing my problems,, the only treatment i can get is to find whatever disease i have so i can cure this thing, its more of a detective work.
I need to find an expert in genes, enzymes, DNA, that type of area because i think that's where i can find the answer.
Accutane can cure Gilbert Syndrome because it affects your DNA and i think something similar happened to me.
Im very thankful for all responses on this forum, especially taniaaust1 and your post about Gilbert Syndrome and genes. I really think the problem lies in the DNA or some enzyme defect and that's what i will focus on next.

 

[Valentijn]

If you strongly suspect a genetic disease, 23andMe is a cheap way to look for some indications of what it might be. The testing only covers a minority of known pathogenic SNPs, however, so isn't much use in ruling out any diseases.

 

[jamienoble]

If you strongly suspect a genetic disease, 23andMe is a cheap way to look for some indications of what it might be. The testing only covers a minority of known pathogenic SNPs, however, so isn't much use in ruling out any diseases.

23andMe is very interesting, actually never heard it before you guys mentioned it. Im however considering to make a much bigger test, if anyone knows a big test i can make please tell. I saw one that cost 5000$ a few days ago but i forgot the name of it. I think this is what i need to do..
Sadly the clinic in Stockholm that is doing these kinds of tests wont accept me, i told my doctor to tell them but im pretty sure they wont give a shit so i have to do it myself instead.

 

[Valentijn]

23andMe is very interesting, actually never heard it before you guys mentioned it. Im however considering to make a much bigger test, if anyone knows a big test i can make please tell. I saw one that cost 5000$ a few days ago but i forgot the name of it. I think this is what i need to do..

I think what you'd want then is personal exome sequencing. Basically it tests all of the SNPs (genetic data) in the parts of the DNA which directly translate into proteins in the body.

Variations in the DNA in exons can create missense mutations in those proteins, where one amino acid is substituted with another, or where the entire protein gets garbled starting at various positions is it.

Approximately 85% of pathogenic mutations are in the exome, which makes it very cost-effective compared to whole genome sequencing, where intron data (sometimes regulatory of the exon protein products) is also tested in addition to the exons.

https://www.genebygene.com/pages/research?goto=exome-sequencing# is discussed a bit at http://forums.phoenixrising.me/inde...-and-whole-genome-sequencing-available.33517/ . They offer testing directly to the general public for US$1,295 per person (you really don't want to get just the cheaper raw data unless you are a highly trained and experienced geneticist).

Getting the full genome data from the same company currently costs US$7,495. So an extra US$6,200 to get the last 15% of potentially pathogenic mutations covered. Perhaps worth it if money isn't much of an issue.

 

[Helen]

Hello, im 28 years old from Sweden

Hej jamienoble!
Welcome to the forum. I will PM you as I live in Sweden and may have some useful ideas. There are specialists in genetics at the university hospitals that any doctor can consult by a telephone call , if the doctor suspects a genetic disorder. It is also possible to get pretty much of genotyping from national labs.

I suppose you have had second opinions to the labwork done so far? You told that your lab tests are normal, but normal results might be false negatives as e.g. the serum cobalamin that doesn´t always reflect the actual situation. Serum-cortisol might be affected of some reasons too, and could be invalid if not measured in saliva. Just some thoughts.

The ME specialist KDM, mentioned above, visits Oslo regularly and it is possible to book appointments to see him there. I am one of his patients.

 

[Helen]

If you strongly suspect a genetic disease, 23andMe is a cheap way to look for some indications of what it might be. The testing only covers a minority of known pathogenic SNPs, however, so isn't much use in ruling out any diseases.

Do you know when it will be possible to get tested in UK? As far as I understood the UK 23andme test will be presented with health risks based on published studies as earlier in US? It might be a good idea to wait until testing in UK is an option, or?

 

[Valentijn]

Do you know when it will be possible to get tested in UK? As far as I understood the UK 23andme test will be presented with health risks based on published studies as earlier in US? It might be a good idea to wait until testing in UK is an option, or?

It's currently possible, and since they now have a lab in the Netherlands it only costs 125 pounds. They can also still do the health info for patients outside of the US currently.

 

[jamienoble]

Thanks Valentijn, thats what i was looking for. Im not sure if should do the regular one or the expensive. Im leaning more towards the expensive because then i know for sure if its something wrong with my genes or not.
I wonder if the results are easy to understand and if the regular health care doctors would take this test seriously if something is actually discovered?

Also, a doctor told me that i could have some enzyme-defect because my body odor and urine is affected. What type of diseases is this related to? Is this also genes or perhaps metabolic diseases? My doctor was kinda clueless when i asked him today and i need to know which clinic its related to so i can hopefully go there.

Helen: Im sending you a PM!

 

[Valentijn]

I wonder if the results are easy to understand and if the regular health care doctors would take this test seriously if something is actually discovered?

I think they would be somewhat difficult to understand, without a bit of experience regarding genetic data. It might require searching for SNPs one at a time to see if there is any research showing that they are pathogenic. OMIM is a good resource for this, but it might be time-consuming if you don't know what you're looking for. A geneticist should know exactly what to do with the data, and it might help a lot to talk to one before ordering the test.

But any results showing an actual disease-causing pathogenic mutation should be easy to get taken seriously. A lot of people screw up at that point, and get hysterical over minor variations which have little or no impact, or become fixated on SNPs which have a significant impact but are certainly not disease-causing. Again, that's something a geneticist could probably help with, or just careful reading of the relevant research.

 

[jamienoble]

I think they would be somewhat difficult to understand, without a bit of experience regarding genetic data. It might require searching for SNPs one at a time to see if there is any research showing that they are pathogenic. OMIM is a good resource for this, but it might be time-consuming if you don't know what you're looking for. A geneticist should know exactly what to do with the data, and it might help a lot to talk to one before ordering the test.

But any results showing an actual disease-causing pathogenic mutation should be easy to get taken seriously. A lot of people screw up at that point, and get hysterical over minor variations which have little or no impact, or become fixated on SNPs which have a significant impact but are certainly not disease-causing. Again, that's something a geneticist could probably help with, or just careful reading of the relevant research.

Thanks alot for the info! I will make sure to find someone who can help me to go through the results before i do this. I will also try to find others who has done similar big tests, if they ever found anything that helped them.

 

[jamienoble]

Has anyone ever tried to apply to the NIH Undiagnosed Disease Program?
Only 50-100 cases are invited each year so the chance of being accepted to this must be very small.
But i have nothing to loose so i will give it a shot.

For more information on NIH’s Undiagnosed Disease Program, please see:
http://www.genome.gov/27544402
http://commonfund.nih.gov/Diseases/index
http://rarediseases.info.nih.gov/research/pages/27/undiagnosed-diseases-program
http://rarediseases.info.nih.gov/research/pages/47/Frequently-Asked-Questions-about-the-Undiagnosed-Diseases-Program

 

[Sushi]

Has anyone ever tried to apply to the NIH Undiagnosed Disease Program?
Only 50-100 cases are invited each year so the chance of being accepted to this must be very small.

I know of 2 patients who were accepted there. It was a disaster for both, sadly. It sounds good but didn't pan out, the docs didn't talk to each other....With one friend they made a very basic mistake (carelessness) that could have killed her...if she hadn't caught it.

Sushi

 

[PennyIA]

Hello, i will most likely not go to Mayo Clinic, but im kinda in a different situation compared to those who had a negative experience to Mayo. Most from this forum knows that they have CFS or similar and they want to be treated.

I did not have a known condition before I went to Mayo and they missed a really obvious diagnosis (the minute I read the symptoms I knew without a doubt I had it) and never diagnosed me with CFS - but tried to give me GET/PACE (just didn't call it that) as a treatment.

So, Mayo is known for being top of the field for identifying things that fit into nice, neat categories. They don't do so well with everyone. I was told 50% of their patients walk away without diagnosis and some of those they shunt off to psychiatric treatment.

I'm not saying no, that they won't help. But I did want to clarify that most of us went to Mayo to get diagnosed and still didn't end up with a good end result.