Chicks in Control - Back after medical diagnosis




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Jubilee77
07-02-2014, 02:23 AM
I am back after being diagnosed with a genetic problem which makes it difficult for my body to detoxify chemicals/preservatives/etc. and causes me to have extremely low vitamin B. It's called MTHFR. (Great name, huh??)

The diagnosis and required diet changes (had to cut out some fruits, vegetables and nuts of all things) caused me to initially gain back a few pounds. Throughout the stress, I managed to get by with only one or two binges.

The treatment I'm on allows my body to detoxify, but also takes a lot out of me, so I have to go easy with diet and exercise. I've managed to lose what I gained and have maintained that weight for a few weeks now.

I am going to concentrate on staying physically strong through moderate exercise and not becoming frustrated by the dietary guidelines. It's this frustration which caused me to binge when I was first diagnosed.

I'm excited to be back on this forum because I find it to be such a supportive place.

J.


KTG1981
07-09-2014, 01:54 AM
Wow! Welcome back!

You officially have one of the best-named conditions, ever. It also sounds like a tremendous PITA, so good for you on wrestling control of it.

What can we do to be supportive? Personally, I'm best suited for snarking . . .

*ahem*

Man, dem nutz is CRA-ZY! Whatchu wanna deal with them for, anyway?

Seriously, though, I'm intrigued! Will you have to stay on the same level of restrictions after detox, or just monitor intake? How on earth does one even begin to suspect something like that?

MauiKai
07-09-2014, 08:31 AM
Ah that is quite common amongst people with Ehlers Danlos Syndrome. I have a lot of friends with it. If you want to talk to others with the condition check out the EDS support groups on FB.


Wannabehealthy
07-09-2014, 08:31 AM
I too googled this and read a few sites. From what I read, MTHFR is a gene. If yours happens to be mutated it can cause various medical conditions depending on which mutation you have. Jubilee just so happens to have the mutation that prevents the body from proper detoxification. The mutation is from birth and cannot be corrected. You just have to treat whichever condition the mutation produces.

I wish you luck with this and hope you will follow up and keep us informed as to how things are going.

Gingerjv
07-09-2014, 08:44 AM
Welcome back! Wish you good health and good luck! I love this place too;-) Lot's of nice and supportive people;-)

hannahbeanies
07-09-2014, 08:23 PM
Welcome back and best luck to you!!

seagirl
07-09-2014, 08:46 PM
I am trying to get beyond this sort of explanation. I am sure there is a more scientific explanation but which can be said in plain english.

Just so you know where i'm coming from. In ordinary people, there is no need for detoxification. The whole concept is bankrupt. We excrete our poisons through through our bowel and kidney systems. Ie any excess vitamins and other wastes. That's why there's so much of it! The whole concept of liver detox is bunkum and has been refuted many times by scientists. Of course we feel significantly better when we go on a raw food diet for a few days. But that's not detoxification. That's just eating less crap and more healthy food with vitamins and minerals in it that we're probably somewhat deficient in.

So I figure there is a better explanation with regard to this gene mutation thing and that's i am curious about.

I presumed the OP was just using the detox word as short hand for something much more meaningful.

Everything I've read on medical sites about this condition uses the term "detox." And your point about "in ordinary people" is right on - in ordinary people. Not people with this mutation.

Jubilee77
07-11-2014, 04:50 AM
Wow! Thanks for all the responses.

In those who do not have this mutation, their bodies process chemicals (detoxify), viruses, preservatives, etc. through their bowel, liver, kidney, lymph and skin. In those with the mutation, our body's ability to do so is compromised depending on the severity and number of mutations (there are many affiliated with this condition). Our bodies CAN detoxify; if they didn't, we'd be dead. By treating with the raw materials which drive the physiological cycle of detoxification, we can actually allow our bodies to speed up detoxification and get rid of the accumulation of chemicals, etc. we've been piling up since utero.

I have to cut out some fruits,veggies and other foods (though less and less as I progress through treatment) which are high in salicylate and sulfur. My body does not process those well without treatment with the raw materials for that cycle (mainly molybdenum).

I probably haven't described it correctly, but this is as much as I understand now. There is also an entire other side to it which has to do with Vitamin B.

I am doing much better and am looking forward to becoming stronger and stronger. I have not binged in several weeks now and am just concentrating on caring for myself and being thankful.

Thanks again...it's good to be back.

Blessings,
J

KTG1981: It's not a rare mutation, but if you have many related mutations and/or have some mutations and have had huge chemical/metals exposures, you will have problems. My OB/GYN suspected it after 5 miscarriages following 3 perfectly normal pregnancies and births. There are SO many other issues MTHFR and the related mutations can cause. Anyone with chronic illness, infertility, clotting disorders, chemical sensitivities, and MANY more should look into it.

Wannabehealthy
07-11-2014, 08:51 AM
Patience, compare it to diabetes. A normal person's can eat carbs and sugar and their pancreas secretes the proper amount of insulin to process the glucose. A type 1 diabetic has a pancreas that no longer produces insulin for whatever reason. A type 2 diabetic has a pancreas that still produces insulin, but the body resists it and leaves the sugar circulating in their blood stream instead of pushing it into the cells for energy.

It is only a person with this mutation whose body is not detoxing.

For me, this is enough of an explanation without going into deeper research.

Jubilee77
07-11-2014, 11:41 PM
Thank you, Pattience, for your concern. I am always skeptical about new things, too. There is quite a lot of baloney out there and worse: people who are out to fleece others. I was neither trying to direct anyone to an MTHFR site nor attempting to drum up business for anything. I suppose I should have only said that I had returned after an illness. I did debate whether or not to mention the MTHFR bit, because I didn't want it to become a focus. I wanted to reengage after not having had the courage to be active on this site when I failed to maintain my binge-free status in the face of my medical situation. I am embarrassed about it and should've just said so instead of mentioning this weird mutation deal.

Thanks again, everyone, for the support.

Blessings to all in our journey toward health.

J.

kaplods
07-12-2014, 07:18 AM
Were you diagnosed by a medical doctor?

35% of people have this gene, that alone makes it very hard to believe that the gen could be strongly linked with a disease or disordered state requiring a specialized diet (beyond the recommendation to supplement with folic acid).

There is unfortunately a trend of some chiropractors partnering up with "genetic testing labs" who then prescribe specific diets based (supposedly) on your unique genetic markers.... sounds great, right?

Except there's often little or no scientific basis for the diets prescribed. Some labs were even proven to not actually test the blood at all (they were just randomly sending patients one of several diet sheets).

I urge you to get a second opinion from a doctor (or a second doctor if an MD diagnosed you. An endocrinologist might even be warranted. I'd also recommend seeing a registered dietitian.

Everything I've read online either screams quackery or recommends only folic acid supplementation.

Whenever you see a long laundry list of conditions, supposedly all caused by a single condition, suspect a scam, especially when the list is provided by an entity selling a treatment, and most especially when more than 10% of the population supposedly suffer from it.

At 35% of people carrying at least one copy of the gene, that's in itself is a major red flag for a scam.

kaplods
07-12-2014, 07:32 AM
Everything I've read on medical sites about this condition uses the term "detox." And your point about "in ordinary people" is right on - in ordinary people. Not people with this mutation.

Since more than 1/3 of people carry this supposed "mutation," people who carry the gene ARE ordinary people, and there's certainly no indication that 1/3 of the population do not have functioning livers and kidneys.

Also, check the reputation of these supposed medical sites. Of those I found, most of them were not only recommending detox, they were also selling said detox (a huge red flag for a scam).

I could find very little information on this "mutation" and it's supposed effects on reputable medical sites. The actual research doesn't warrant anything but more research, certainly not treatment recommendations beyond a folic acid supplement.

It also seems extremely unlikely that it could be implicated in everything from autism to irritable bowel didease to cardiac deaths to fibromyalgia.

It seems odd that most of the problems supposedly associated with this gene are those for which the reputable medical community reports as unknown or complex. So suddenly they all can be explained by a single gene?

Absurdly unlikely at best. Please get a second opinion from a reputable medical practitioner (an actual MD, nurse practitioner, physician's assistant) or registered dietition - someone who isn't selling the genetic test or diet.

jeminijad
07-12-2014, 10:43 AM
The term "detox" is, in fact, a red flag for quackery. I am familiar with this mutation in terms of its effects on pregnancy - my SIL had massive folate supplementation and Lovenox shots in order to carry my nephews - but not in its everyday implications. I'll be reading about it.

What is the mechanism by which the mutation impairs the cleaning functions of the liver and kidneys?

Jubilee77
07-12-2014, 10:47 PM
I completely understand the skepticism.

I'm tempted to write at length about how after 4 years of being nearly bed-ridden, I finally got a diagnosis (270.4 Disturbances of sulphur-bearing amino acid metabolism) from an MD (UCLA, UCSD) and a treatment plan that has allowed me to care for my children and clean my home, but I'm not sure it would do much good.

Hopefully you'll be satisfied by the code and as one poster suggested: do more research on your own, if desired.

Blessings,
J.

kaplods
07-13-2014, 02:58 PM
I completely understand the skepticism.

I'm tempted to write at length about how after 4 years of being nearly bed-ridden, I finally got a diagnosis (270.4 Disturbances of sulphur-bearing amino acid metabolism) from an MD (UCLA, UCSD) and a treatment plan that has allowed me to care for my children and clean my home, but I'm not sure it would do much good.

Hopefully you'll be satisfied by the code and as one poster suggested: do more research on your own, if desired.

Blessings,
J.

Actually, it makes all the difference in the world. There's a distinction between having the gene and having the genetic disease, and it's this distinction that unscrupulous scammers are exploiting and deliberately confusing in order to convince perfectly healthy people that they need unnecessary treatment for a disease they do not have.

The confusion arised because you called MTHFR the diagnosis. MTHFR is the gene, not the diagnosis, and that is what inspired my post. Billions of people (somewhere between 1/2 and 1/3 of humans) carry the gene, most without any adverse symptoms at all. Without symptoms, there is no diagnosis.

Having an actual diagnosis (270.4) makes all the difference in the world.



Just be cautious about believing any online information without confirming it and the site's reputation with your doctor, because many of those sites are quite misleading, suggesting that carrying MTHFR, in itself is a diagnosis, and it is not.

GlamourGirl827
07-13-2014, 04:13 PM
I am back after being diagnosed with a genetic problem which makes it difficult for my body to detoxify chemicals/preservatives/etc. and causes me to have extremely low vitamin B. It's called MTHFR. (Great name, huh??)

The diagnosis and required diet changes (had to cut out some fruits, vegetables and nuts of all things) caused me to initially gain back a few pounds. Throughout the stress, I managed to get by with only one or two binges.

The treatment I'm on allows my body to detoxify, but also takes a lot out of me, so I have to go easy with diet and exercise. I've managed to lose what I gained and have maintained that weight for a few weeks now.

I am going to concentrate on staying physically strong through moderate exercise and not becoming frustrated by the dietary guidelines. It's this frustration which caused me to binge when I was first diagnosed.

I'm excited to be back on this forum because I find it to be such a supportive place.

J.
Wait, what???

I have not read any replies yet. But I have been told I have the MTHFR gene issue as well. It was found after I have 2 m/c (after two HEALTHY pregnancies). From what I read then, it was fairly common and no big deal. I have never heard any of this stuff you are talking about. Did your doc tell you this? I am not saying its not true, but I just never heard any of it. I will have to do some reading about it...I seriously have never heard or read anything at this point though that says any diet changes are required. Very interesting though. I will definitely look into all that! Thank you!

kaplods
07-13-2014, 04:47 PM
Wait, what???

I have not read any replies yet. But I have been told I have the MTHFR gene issue as well. It was found after I have 2 m/c (after two HEALTHY pregnancies). From what I read then, it was fairly common and no big deal. I have never heard any of this stuff you are talking about. Did your doc tell you this? I am not saying its not true, but I just never heard any of it. I will have to do some reading about it...I seriously have never heard or read anything at this point though that says any diet changes are required. Very interesting though. I will definitely look into all that! Thank you!


The gene itself is no big deal. 33% - 50% people carry it, and most have no symptoms at all. The research that links the gene to various health issues s is still relatively new and inconclusive.

Because so many healthy people have the gene, it is likely that other genes must be involved and/or certain environmental factors must be present in order for problems to arise, which is why it's so important NOT to call having the gene a diagnosis.

It would be like calling "having blue eyes" a diagnosis when you mean you have a genetic disease that only occurs in blue-eyed people (and there are some).

Most people who have the MTHFR gene are perfectly healthy or, at worst, may need to take a folic acid supplement (or eat more veggies).

A lot of unscrupulous "genetic testing labs," chiropractors and non-certified, self-proclaimed nutritionists, are making a lot of money by implying or saying that possession of the gene is a diagnosis independent of symptoms.

No symptoms = no disease.

Even having the gene and a diagnosis doesn't mean the diagnosis is caused by the gene.

Reportedly, 98% of those with autism have the gene, but that doesn't mean autism is caused by the gene. If it were that simple, autism would be much more common considering the gene is so common in healthy people.

GlamourGirl827
07-13-2014, 06:41 PM
The gene itself is no big deal. 33% - 50% people carry it, and most have no symptoms at all. The research that links the gene to various health issues s is still relatively new and inconclusive.

Because so many healthy people have the gene, it is likely that other genes must be involved and/or certain environmental factors must be present in order for problems to arise, which is why it's so important NOT to call having the gene a diagnosis.

It would be like calling "having blue eyes" a diagnosis when you mean you have a genetic disease that only occurs in blue-eyed people (and there are some).

Most people who have the MTHFR gene are perfectly healthy or, at worst, may need to take a folic acid supplement (or eat more veggies).

A lot of unscrupulous "genetic testing labs," chiropractors and non-certified, self-proclaimed nutritionists, are making a lot of money by implying or saying that possession of the gene is a diagnosis independent of symptoms.

No symptoms = no disease.

Even having the gene and a diagnosis doesn't mean the diagnosis is caused by the gene.

Reportedly, 98% of those with autism have the gene, but that doesn't mean autism is caused by the gene. If it were that simple, autism would be much more common considering the gene is so common in healthy people.

Thank you for the info. Especially since I just found out that I am expecting again. I will be rehashing all this again with the doc tomorrow I suppose.
Actually yes, they did put me on a mega dose of folic acid last time. Other than that there were no further recommendations.

I don't believe my m/c had anything to do with that anyway. I think of it more as an incidental finding I guess.

Jubilee77
07-13-2014, 07:34 PM
It is patently false to say that the gene mutation itself is no problem. My sloppy usage of the term "medical diagnosis" does not negate the fact that the gene mutations are the cause of the codeable condition(s).

When I was healthy/asymptomatic, I warned people away from anyone other than establishment doctors just as fervently as you do now, kaplods. I only became open to alternative medicine when I found myself bedridden after having been a nationally ranked athlete and the establishment doctors could not help. Unfortunately, that is where MTHFR and its related SNPs (single nucleotide polymorphisms), which cause codeable problems, currently lies - largely in alternative medicine. These genetic mutations are bypassed (yes, the mutations are addressed) with non-pharmaceuticals, which is a type of medicine generally not practiced by MDs in this country (yet).

My MD only began to implement the treatment of MTHFR and its related SNPs after her young son was diagnosed with cancer. Her whole family underwent genetic testing and found MTHFR and related SNPs. She has dozens of patients whose lives she is changing by bypassing their mutations (and resolving their codeable diagnoses) with non-pharmaceutical drugs. Such drugs can be necessary and life-saving, but are generally not necessary in this context. These drugs do come in handy once a patient whose MTHFR genes/related SNPs are mutated AND can no longer bear the cumulative toxin load (due to impaired gene-mediated detoxification) and develop cancer, autoimmune disease, etc. Having the mutation(s) leaves you prone/ripe for disease, even if you are healthy/asymptomatic now (as I was 4 years ago). My MD treats patients whose genes are mutated but who are asymptomatic (such as my children).

In hindsight, I should have simply said that I had been absent due to illness; it certainly would have saved quite a headache. I do hope that all of this has helped at least one person. I agree that everyone should do their own research and use their own discernment. This will be my last post on this thread. I do apologize in advance for not responding to future posts. It is my intention to be on this site for binge eating support.

Blessings,
J.

kaplods
07-13-2014, 10:46 PM
So you really believe that more than 1/3 (and up to 1/2) of the human race has a serious genetic defect that universally results in life-threatening disease?

If that's true, the species is doomed. Especially since we're only talking about one defect here, and there are hundreds, if not thousands of other genetic defects. Why, that would mean everyone must have a serious disease they don't know about.

GlamourGirl827
07-14-2014, 07:21 AM
Ok, I'm saying this with my brain in a fog because of what has been going on in my personal life lately, but is it possible that the diet change and other stuff make you feel better because you have another condition that has not been discovered in you yet (meaning you haven't been tested for whatever it is) and the MTHFR mutation is there but not related? Just a thought.