23andMe doctor-update geneticist response

[nevergiveup]

So, I had genetic testing done on my son through 23andMe and he has a few abnormalities (+/+ for CBS C699T, VDR Bsm, MAO A R297R) and some heterozygous results for others.

 

I uploaded the data to genetic genie and trying to figure out a plan of action is putting my brain in a panic mode.

 

If one were wanting a doctor or counselor or someone to help with this, who would you seek?

 

An online site, medical doctor, naturopath, functional doctor.....?

 

How did any of you who have gone this route, decide?

 

UPDATE:  I sent an inquiry to a metabolic geneticist at a major university here expressing my desire to find help with a nutritional and supplemental program and here is what she said, "Unfortunately 23andMe testing does not have great clinical implications/impact and management changes based on those results are generally not recommended.  I’m sorry, I don’t know of any genetics professionals who can provide you with this type of information. "

 

Huh.  

Is she saying not to bother?  That it doesn't matter after all?

Interesting.

 

Edited August 1, 2016 by nevergiveup

[TechWife]

Start with his primary care doctor and ask for a referral to a genetic counselor. I believe you usually have to have a referral to get an appointment. 

 

Honestly, this is one reason I don't like "self-service" genetic testing. People get the results and don't understand them and/or don't know what to do with the results. 

 

Try not to panic until you have more information from a trusted source. 

 

ETA: Do not trust internet sources. You need personalized information, not random information from people who have neither seen the test results or cared for your son. 

Edited July 29, 2016 by TechWife

[nevergiveup]

Very sound advice, TechWife!

Thanks!

[iamonlyone]

We have  consulted with Cynthia Smith with Life Zone Wellness concerning our three children's 23andme reports and have been very happy. (She does Skype consultation and will work  in conjunction with local physicians.) You can find her by doing an internet search.

[nevergiveup]

Thank you so much, iamonlyone!  I am looking for nutritional and supplement advice and will look into your suggestion.

 

All of this has gotten me wondering if the folks on here with the MTHFR mutation are just slugging through it on their own with trial and error?

[TechWife]

I think that most people who have gene mutations don't know it and don't have a compelling reason to find out. Personally, I can't think of a reason I would ever need to know. If I ever become ill and have a reason to look into it I'm sure I will, but I will do so through a physician and genetic counselor. I do what I can to lead a healthy lifestyle so that if I have health problems I can approach them from a position of strength, but I don't have a reason to search below the surface at this point in my life.

[creekland]

 If I ever become ill and have a reason to look into it I'm sure I will, but I will do so through a physician and genetic counselor.

 

Just so you're aware... the advice, "see a doctor" really only works for common things.  When one gets to the rare and/or complicated stuff, they usually don't know either and certainly aren't trying very hard to figure it out or give referrals to others who might be able to figure things out.  The best they seem to offer are meds to suppress things, but those come with their own issues and trade offs that some of us don't want - at least - not without trying to find an answer.

 

I have learned far more from google and a couple of contacts than I have from any of my "official" doctors - and that includes going to a place with a fancy name.

 

Thinking "going to a doctor" was the right thing and would help with explanations, or even fixes, also messed my mind up mentally for a bit (when it didn't happen - the frustration from what one feels is "supposed to happen" vs the real thing - see my sig).  I didn't know what stress was before, but I do now.  I didn't really know what depression was before, but I do now.

 

Accepting the fact that the ideal world and real world are two different places (even medically) is the only thing that is getting my mind back on track where it should be, and while I've given up on at least 90% of the medical world personnel, I'm not giving up google.  The other 10% might come into play when "I" can figure out what could be correct and how to get tests from that (answers from tests), then can find someone who can deal with it.  Trying to do the same via doctors (as one is supposed to do) has only cost me time, significant amounts of money (from us and health share), and frustration.

 

But that's for the rare/unusual things that one sometimes is "fortunate" enough to draw the straw for.  For common things, doctors have been fine.  They just aren't magical and all-knowing (who among us is?) and most simply do not have the time (or desire) to delve deeply into the not-so-well known.  Those doctors are mainly found on TV shows or movies since Hollywood pays far better.  :tongue_smilie:  Google, however, is there for the searching and someone actually dealing with the rare stuff tends to have far more time and inspiration to look for answers - or who might be able to provide them.

 

[wapiti]

Finding a doctor who has any clue about the methylation and detox profiles that come out of genetic genie and 23andme is quite challenging. In my area, there are maybe a few NDs, though their knowledge only goes so far. I haven't yet found an MD here. The information is too new, extremely complex (an understatement), not one-size-fits-all, etc. It really ought to be a specialty in itself, IMO.

Have you looked at http://www.heartfixer.com/IndexHF.htm ? There's a great deal of info on that site and you might be able to figure out some options to try if you only have a few mutations - look here especially. They offer a service though I think it's far more expensive than it was a couple years ago - I wish I had done it with my child's results back then. There are a few private enterprises offering specialized advice on this sort of thing, perhaps more on the east coast, though I don't have any experience with them and I haven't read enough about their reputations... I'm not even sure of search terms to find them. (I'm thinking of Yasko-like but newer.) My only advice is to choose wisely :)

The biggest thing to keep in mind is that the mutations and polymorphisms that you have uncovered may interact with ones that have not yet been discovered. This is the Wild West, the cutting edge. It is like putting together a 5,000 piece three-dimensional puzzle with moving parts and missing pieces. MDs that pride themselves on their evidence-based practice may not find a cushion of evidence sufficiently large enough to offer clinical recommendations.

ETA, it just so happens that I'm currently wading through my dd's results and reading the methylation webpage at heartfixer linked above. It's really quite helpful though most of the time I don't have the mental energy for such a task. There's a ton of info packed into every sentence. I've skimmed through this page many times before but my kids have so many polymorphisms that it would be useful if I could truly absorb what info is available here.

Yasko's 2005 book Genetic Bypass is available free on line and I intend to read that soon.

Edited July 31, 2016 by wapiti

[Spryte]

I didn't go looking to learn about gene mutations, but my doc recommended it. I was seriously ill, in treatment for a brain infection, and basically having a lot of trouble with treatment and recovery.

 

About ten years ago, my doc did some genetic testing and we found out quite a bit.

 

She now does 23 and Me, for patients who are ill and clearly need it. It takes her hours to go through the results and tailor a plan, and I'm under the impression that her general approach is to do it if all else fails. She's done it for me, but has not advised is to do it for DH or the kids, all of whom tend to be healthier.

 

I think if you're having issues, and looking for help, the best place to start is with your doc. Preferably your open minded doc. :)

[MamaBearTeacher]

Don't panic. These are not really rare mutations. For example, from what I understand, about 80% of North Americans have the MTHFR mutation. Also, whatever health problems you sought to find answers for with the testing you did may or may not be caused by the mutations you found.

[MamaBearTeacher]

I didn't go looking to learn about gene mutations, but my doc recommended it. I was seriously ill, in treatment for a brain infection, and basically having a lot of trouble with treatment and recovery.

 

About ten years ago, my doc did some genetic testing and we found out quite a bit.

 

She now does 23 and Me, for patients who are ill and clearly need it. It takes her hours to go through the results and tailor a plan, and I'm under the impression that her general approach is to do it if all else fails. She's done it for me, but has not advised is to do it for DH or the kids, all of whom tend to be healthier.

 

I think if you're having issues, and looking for help, the best place to start is with your doc. Preferably your open minded doc. :)

Did this help with treatment? What kind of treatment, if you don't mind my asking? I'm glad you are feeling better!

[Spryte]

Did this help with treatment? What kind of treatment, if you don't mind my asking? I'm glad you are feeling better!

It helped with figuring out why some meds didn't work, some made me sicker, and some almost killed me. Levaquin, for one - oh my goodness. My liver cannot detox that one, and I became more and more toxic. It was scary. Once we figured out that a certain class of meds just won't work for me - it made my treatment go smoother.

 

It took about five years of heavy duty abx, in various combos, but I'm better now, thanks! It was a a combo of 13 different chronic infections - really nasty stuff.

 

The genetic testing was worthwhile, for that alone. :)

[wapiti]

For example, from what I understand, about 80% of North Americans have the MTHFR mutation.

 

It's a large percentage to be sure.  According to promethease.com, 44% are heterozygous for MTHFR C677T, I think 10% are homozygous (according to wiki).  For MTHFR A1298C, a similar percentage (45%) is heterozygous according to promethease; I haven't found the percent for homozygous.  I also don't know what percent are compound heterozygous (heterozygous for both) like my kids are; that seems to be more controversial in terms of the compounded effect on the methylation cycle.

 

What annoys the snot out of me is why some product I picked up at the store the other day - Cheerios, I think - needs to include 50% of the RDA of folic acid when it can't even be utilized properly by such a large percent of the population and indeed may have negative effects for some over time.  It's quite challenging to avoid for those who would prefer to avoid it.  (sorry for the rant, I'm frustrated with this issue today...)

[TechWife]

Just so you're aware... the advice, "see a doctor" really only works for common things.  When one gets to the rare and/or complicated stuff, they usually don't know either and certainly aren't trying very hard to figure it out or give referrals to others who might be able to figure things out.  The best they seem to offer are meds to suppress things, but those come with their own issues and trade offs that some of us don't want - at least - not without trying to find an answer.

 

 

I realize that "see a doctor" doesn't work for everything. However, I disagree that it is only for common things. The PA at student health picked up a rare illness that ds had last semester, for goodness sake! Not only was it rare, he was well beyond the average age of onset. I live near nationally ranked university research hospitals and they are a different breed when it comes to how aggressively they seek out answers and work with patients. I am speaking from the voice of experience as well - my son was treated for a life threatening illness at one of them a couple of years ago. In my personal experience, I have received referrals to specialists and have even had specialists refer me to other specialists. I've never been treated for an illness without a physician trying to determine it's cause - neither has anyone else in my immediate family. I'm not discounting your experience at all, believe me, but for a great many people, traditional medicine serves them well. So far, my family has been among them.  

 

Am I saying I would never try other avenues if I met a dead end? Not at all. Am I saying I don't do my own research when it is warranted? No, I do research when it's needed. I do believe in patients learning and advocating for themselves, certainly, but not at the exclusion of consulting medical professionals for medical needs. People are in charge of their own health and have to make their own decisions, but I'm all for informed decisions and I do think that physicians are valuable resources. 

[Janeway]

Have you tried Promethease?

 

We actually already knew about the MTHFR which is one of the things you listed. But we paid a lot of money for that testing. Much of what you are listing is not that uncommon. Promethease app actually had explanations though. It was only $5.

[creekland]

I realize that "see a doctor" doesn't work for everything. However, I disagree that it is only for common things. The PA at student health picked up a rare illness that ds had last semester, for goodness sake! Not only was it rare, he was well beyond the average age of onset. I live near nationally ranked university research hospitals and they are a different breed when it comes to how aggressively they seek out answers and work with patients. I am speaking from the voice of experience as well - my son was treated for a life threatening illness at one of them a couple of years ago. In my personal experience, I have received referrals to specialists and have even had specialists refer me to other specialists. I've never been treated for an illness without a physician trying to determine it's cause - neither has anyone else in my immediate family. I'm not discounting your experience at all, believe me, but for a great many people, traditional medicine serves them well. So far, my family has been among them.  

 

Am I saying I would never try other avenues if I met a dead end? Not at all. Am I saying I don't do my own research when it is warranted? No, I do research when it's needed. I do believe in patients learning and advocating for themselves, certainly, but not at the exclusion of consulting medical professionals for medical needs. People are in charge of their own health and have to make their own decisions, but I'm all for informed decisions and I do think that physicians are valuable resources. 

 

I am seriously glad it worked for you, but I still say telling everyone that "just see a doctor" will work for them sets folks up to potentially be severely frustrated when what is supposed to happen doesn't.

 

I went to a place that is supposed to be Top 5 in the nation.  It was no different at all than my local doctors.  Well, wait.  There was a difference.  I had to take time off work and appts cost more than twice as much for both me and the health share we belong to.  I wouldn't have minded the cost if they had actually tried to determine a cause beyond the basics which the local docs had already ruled out.  They never did - in a year's time.  Google tells me there are other options.  Folks on the Hive have even found other possibilities to consider.  Even when I specifically asked for those to be tested, all I got was "no, take these meds to suppress symptoms instead" or no response at all (pending which doctors we are talking about).  The meds, of course, have more potential issues to them than just saying "take two aspirin and call me in the morning" and they fix nothing.  They only cover it up while causing fatigue, etc.  I don't have fatigue at the moment and I don't want it - or anything else that can come with the meds.  That does not bother them at all.

 

My story is not the only one.  I've read most on the Hive since starting to have more serious issues - working on building up my medical knowledge since previously my science background was Physics/Chem or medically I knew basic Bio and first aid.  The issues others have are all different than mine, but many, many times the response from doctors is eerily similar.  I'm pretty sure they write some of us off as crazy.

 

It's nice to know what is supposed to happen works sometimes, but to assume one will be in that group could drive one mad.  BTDT and now really turned off from the medical system - while at the same time getting to be a cheerleader for a son heading to med school. Very weird situation TBH. My hope is that he keeps his current attitude and can end up leading me to others who might be able to help.  He's already provided more info than what I've gotten officially - from him and his contacts.

 

Anyone dealing with something not figured out by docs (assuming all originally start there), needs to know it's not necessarily them and they won't necessarily get help like they expect - even if they pay top dollar and head to fancy places.

 

[JumpyTheFrog]

I did 23 and Me and ran it through Genetic Genie several years ago. (I already knew my MTHFR status before that.) Ultimately, I did nothing with the information because most of what I could find was by Amy Yasko and I was not going to add a dozen new supplements. (I have spent thousands of dollars on them over the years and most appear to have been a waste of money. A few definitely helped, and others were hard to tell.)

 

Information on SNPs and their effects, as well as how to treat them, is mostly very new. I think most practitioners are bumbling along. Maybe in another five years there will be more verified info out there. I don't say all this to discourage anyone, but more to remind people that all the info is so new that who really knows what to do with any of it.

 

That said, 23 and Me did show that I am a slow metabolized of caffiene. That explains why even chocolate can give me insomnia.

[JumpyTheFrog]

I am seriously glad it worked for you, but I still say telling everyone that "just see a doctor" will work for them sets folks up to potentially be severely frustrated when what is supposed to happen doesn't.

 

I agree. An enormous percent of doctors don't keep up with the literature, so many of them have knowledge that is 10-20 years out of date. I read somewhere a year or two ago that generally surgeons are the only doctors that get better over time. Most of the rest get worse at diagnosing and treating over the years because their knowledge hasn't kept up with the journals. (Or it is mostly from drug reps.)

 

Doctors receive very little training in nutrition, expercise, or lifestyle changes. Many of them do a lousy job helping patients with chronic illnesses because of lack of knowledge, only toeing the Big Pharma party line, and/or only having five minutes to spend with patients.

[Janeway]

I am seriously glad it worked for you, but I still say telling everyone that "just see a doctor" will work for them sets folks up to potentially be severely frustrated when what is supposed to happen doesn't.

 

I went to a place that is supposed to be Top 5 in the nation.  It was no different at all than my local doctors.  Well, wait.  There was a difference.  I had to take time off work and appts cost more than twice as much for both me and the health share we belong to.  I wouldn't have minded the cost if they had actually tried to determine a cause beyond the basics which the local docs had already ruled out.  They never did - in a year's time.  Google tells me there are other options.  Folks on the Hive have even found other possibilities to consider.  Even when I specifically asked for those to be tested, all I got was "no, take these meds to suppress symptoms instead" or no response at all (pending which doctors we are talking about).  The meds, of course, have more potential issues to them than just saying "take two aspirin and call me in the morning" and they fix nothing.  They only cover it up while causing fatigue, etc.  I don't have fatigue at the moment and I don't want it - or anything else that can come with the meds.  That does not bother them at all.

 

My story is not the only one.  I've read most on the Hive since starting to have more serious issues - working on building up my medical knowledge since previously my science background was Physics/Chem or medically I knew basic Bio and first aid.  The issues others have are all different than mine, but many, many times the response from doctors is eerily similar.  I'm pretty sure they write some of us off as crazy.

 

It's nice to know what is supposed to happen works sometimes, but to assume one will be in that group could drive one mad.  BTDT and now really turned off from the medical system - while at the same time getting to be a cheerleader for a son heading to med school. Very weird situation TBH. My hope is that he keeps his current attitude and can end up leading me to others who might be able to help.  He's already provided more info than what I've gotten officially - from him and his contacts.

 

Anyone dealing with something not figured out by docs (assuming all originally start there), needs to know it's not necessarily them and they won't necessarily get help like they expect - even if they pay top dollar and head to fancy places.

 

The best doctor experience I ever has was when I got sick in a rural area. We went to the hospital, where they buzzed the doctor to come in. He came in and spent a lot of time trying to figure out what was wrong. He was like Dr House or something. It was something rare and I was better within a week. Their entire hospital has 20 beds total, which is great considering you can even give birth there! LOL

[Spryte]

The best doctor experience I ever has was when I got sick in a rural area. We went to the hospital, where they buzzed the doctor to come in. He came in and spent a lot of time trying to figure out what was wrong. He was like Dr House or something. It was something rare and I was better within a week. Their entire hospital has 20 beds total, which is great considering you can even give birth there! LOL

That's pretty cool! You got lucky. :)

 

My regular doc is a House type, and it's pretty amazing to see a talented diagnostician like that at work.

 

Can you share what you had?

[creekland]

I agree. An enormous percent of doctors don't keep up with the literature, so many of them have knowledge that is 10-20 years out of date. I read somewhere a year or two ago that generally surgeons are the only doctors that get better over time. Most of the rest get worse at diagnosing and treating over the years because their knowledge hasn't kept up with the journals. (Or it is mostly from drug reps.)

 

Doctors receive very little training in nutrition, expercise, or lifestyle changes. Many of them do a lousy job helping patients with chronic illnesses because of lack of knowledge, only toeing the Big Pharma party line, and/or only having five minutes to spend with patients.

 

One of the bits of advice I've been given (from friends) is to find someone fresh out of med school who still thinks they can cure the world and hasn't lost that spark.  I was also told there's a student from the school where I work who's started practicing nearby, but the bad part is I don't actually remember her (sigh).  It's entirely possible she still remembers me and we could start with a respected partnership rather than my having to convince her of my sanity, but I haven't pursued that (or anything else) just yet.

 

Right now I just remind myself that 100 years ago anyone getting my issues would have had to just deal with them.  If they did, I can too.  Then my Bio teachings remind me that the body tries for homeostasis (naturally keeping things the way they are supposed to be - like healing cuts, etc), so maybe there's someone inside with blueprints still working on repair.

 

The best doctor experience I ever has was when I got sick in a rural area. We went to the hospital, where they buzzed the doctor to come in. He came in and spent a lot of time trying to figure out what was wrong. He was like Dr House or something. It was something rare and I was better within a week. Their entire hospital has 20 beds total, which is great considering you can even give birth there! LOL

 

Again, I'm glad this worked for you (seriously), but it's not necessarily the answer because I started here in my rural location.  Rural doctors certainly have more time (at least ours do), but that doesn't put the desire there.

 

One has to luck out by finding someone with both the time and desire to do more than meds.  I'm sure it helps if they also don't get offended that I now have put a bit of time into trying to figure this out myself and have some ideas.  So far with the docs I've seen (officially), none have been thrilled that I've put any effort into it.  Any suggestion I make is instantly dismissed - no tests done to dismiss it - just dismissed without much (if any) discussion.  ("It can't be that way.")  It doesn't matter if google suggests situations where it can (real medical sites - not Suzie Q's site).

 

Besides the local possibility I mentioned above, I'm also still seriously considering concierge.  They ought to have more time and the extra cost involved ought to give them incentive to "keep the customer happy" even if they think the customer is wrong.

 

But at the moment, I'm really turned off from our medical system where we have to go through primary doctors to get to specialists.  When/if I get started on something again I'm leaning hard toward finding a place (worldwide) where I can get tests done for my own knowledge without needing a supervisor.  If the tests show something, then (theoretically) I'd have more ammo to try to see a specialist.  If they don't, then I at least have closure about those possibilities and know I have to look elsewhere.  This, of course, requires knowing which tests to get... something I'd prefer a specialist's opinion on... but then I run into our system again.

 

And at the moment, I need to save up more $$ for this.  Due to massive billing issues with Top 5, I'm still getting (new to me) bills in from Dec/Jan at the same time college bills are due for the year.  I have to see if Health Share is ok covering some of those from that old, but even then, it takes 2 - 3 months to get reimbursed.

 

I had allowed all of June/July for Top 5 to work on this and we had the funds for it during the summer (we'd be reimbursed with proper billing time).  Beyond an MRI showing their favored cause wasn't it (very plausible cause - just not it) back in the beginning of June, nothing else has happened 'cause we hit the impasse.  ("Try the meds."  No.  Can we look at this option?  "No. Try the meds.")

 

My mind is still getting over the real world not being the way it was supposed to be - and I've no real belief that anywhere else will be different without getting lucky.  I don't have the tenacity to keep trying.  This last attempt took over a year (since medical stuff is slow) and the little bit they did just repeated everything the local docs had already done - with the same answers and a higher cost.  My protests that "this has already been checked out" didn't matter.  Starting over is costly with no real belief that anything will be different if that is how Top 5 handled it.

 

But things keep getting worse (fortunately slowly), so sooner or later my body might convince my brain to start over again.  Therefore I keep looking at pretty much all medical threads and gleaning some knowledge.  I just get peeved when someone has something unusual and the "strict" advice is to "see a doctor - ignore anything else."  BTDT and it doesn't necessarily work.  Thinking it will work messes with the mind quite severely when it doesn't.  Try it, of course (some get lucky), but beware it's no guarantee.

 

And again, this all applies to the rare/unusual stuff.  Anything common (chest pains, brain tumors, broken bones, etc) - go see a doctor.  Pretty much anyone ought to be able to handle those.  I have no complaints about the common stuff I've dealt with from the brain tumor to carpal tunnel or the occasional infections.  I'm not anti-doctor.  I'm against the myth that doctors are super human and can (or will try to) fix anything.  I suspect they prefer the common stuff too. 

 

Think of it like a math question.  Any math teacher ought to be able to assist with a simple algebra question - or at least direct you to someone who can if it's somewhat more complex.  But there are tough math questions that take a bit of time and effort to solve.  Many teachers will tell a student to skip the question... they don't have the time and/or desire to try to figure it out when skipping it is an easy solution.  If the student doesn't want to skip it, they're on their own.

[nevergiveup]

I hear you, Creekland.

My own sister had a brain tumor and I did an immense amount of research.  Suggested supplements based on what was standard in other countries and in medical studies.

Asked doctors about them and immediately got the eye roll, dismissive attitude.

They gave her 4-6 months to live.  She lived 4 more years.

 

My son, who has learning disorders, has been labeled autistic, aphasic, dyslexic, ADHD, mildly mentally handicapped...

We have tried medications, supplements, therapies, alternative therapies, sleep studies, elimination diets, allergy testing...

And I feel I am missing something--some days he is sharp mentally, some days not so much.  Medications/supplements seem to help for awhile then not (homeostasis). He seems to have less energy than someone his age should so I keep looking for answers and am now pursuing genetic components.

Doesn't seem it should be this complicated and that I should have to figure it out on my own.

 

sigh.

 

 

 

[JumpyTheFrog]

Doesn't seem it should be this complicated and that I should have to figure it out on my own.

I think, unfortunately, this is because none of the doctors care as much as you do. It's probably like homeschooling. Few teachers are as motivated (or have the time) as we homeschooling moms to make sure our kids learn what they need they way they learn it best. Likewise, how many doctors are going to be willing to spend dozens of hours reading to try to figure out what is wrong with a single patient?

[wapiti]

And again, this all applies to the rare/unusual stuff.  Anything common (chest pains, brain tumors, broken bones, etc) - go see a doctor.  Pretty much anyone ought to be able to handle those.  I have no complaints about the common stuff I've dealt with from the brain tumor to carpal tunnel or the occasional infections.  I'm not anti-doctor.  I'm against the myth that doctors are super human and can (or will try to) fix anything.  I suspect they prefer the common stuff too. 

 

Think of it like a math question.  Any math teacher ought to be able to assist with a simple algebra question - or at least direct you to someone who can if it's somewhat more complex.  But there are tough math questions that take a bit of time and effort to solve.  Many teachers will tell a student to skip the question... they don't have the time and/or desire to try to figure it out when skipping it is an easy solution.  If the student doesn't want to skip it, they're on their own.

 

This.

 

FWIW, I recently had an interesting encounter.  One of my kids has a very controversial, cutting edge condition that completely blew my faith in the mainstream docs in our area.  A few weeks ago, we visited with a relative who is an extremely smart mainstream doc at a research center, etc., who should have an inkling about tips of icebergs but yet in the past had nothing to offer on a genetic polymorphism in question.  Anyway, it turns out that she has a personal relationship with a person now experiencing ds's controversial condition and she admitted that she never would have thought it was real if she hadn't known the person before the condition began.  She would have rolled eyes but now those eyes have been opened.  She is willing to make phone calls and help hunt down specialists, should we need more.  I nearly cried that she was supportive from a medical perspective - it means a ton.  We have been in a lonely place.

Edited July 31, 2016 by wapiti

[creekland]

I hear you, Creekland.

My own sister had a brain tumor and I did an immense amount of research.  Suggested supplements based on what was standard in other countries and in medical studies.

Asked doctors about them and immediately got the eye roll, dismissive attitude.

They gave her 4-6 months to live.  She lived 4 more years.

 

My son, who has learning disorders, has been labeled autistic, aphasic, dyslexic, ADHD, mildly mentally handicapped...

We have tried medications, supplements, therapies, alternative therapies, sleep studies, elimination diets, allergy testing...

And I feel I am missing something--some days he is sharp mentally, some days not so much.  Medications/supplements seem to help for awhile then not (homeostasis). He seems to have less energy than someone his age should so I keep looking for answers and am now pursuing genetic components.

Doesn't seem it should be this complicated and that I should have to figure it out on my own.

 

sigh.

 

I'm sorry about your sister (though glad she had 4 years rather than 4 months) and I definitely don't mean to hijack your thread (I'm reading it because I've started reading practically all medical related threads to increase my knowledge).

 

But yes... on the bold, underlined part, don't feel you're alone.  I wish you the best on your search.  Thank you for sharing it so others of us can glean info.  I doubt mine is genetic, but I still want to learn all I can.

 

I think, unfortunately, this is because none of the doctors care as much as you do. It's probably like homeschooling. Few teachers are as motivated (or have the time) as we homeschooling moms to make sure our kids learn what they need they way they learn it best. Likewise, how many doctors are going to be willing to spend dozens of hours reading to try to figure out what is wrong with a single patient?

 

This has been my conclusion too.  It's not only that they don't care.  They don't have time to put into one person when the system requires they concentrate on so many trying to give each their best advice.  "Regular" docs also don't specialize that much.  They could go from a hurt foot to diabetes onset to digestive problems then sleep issues or multiple other options and they're supposed to be on top of it all - instantly - in 20 minute increments - and remembering what was done last time they saw someone to keep continuity (granted, notes help for this, but still...).  We won't even mention their having their own life and/or a family.  That system doesn't allow for anyone to have something uncommon.  Who among us could do it all and then some?

 

I don't blame them (other than maybe not being willing to listen to ideas a patient has gathered from reputable sources).  I definitely get frustrated at the system.

 

This.

 

FWIW, I recently had an interesting encounter.  One of my kids has a very controversial, cutting edge condition that completely blew my faith in the mainstream docs in our area.  A few weeks ago, we visited with a relative who is an extremely smart mainstream doc at a research center, etc., who should have an inkling about tips of icebergs but yet in the past had nothing to offer on a genetic polymorphism in question.  Anyway, it turns out that she has a personal relationship with a person now experiencing ds's controversial condition and she admitted that she never would have thought it was real if she hadn't known the person before the condition began.  She would have rolled eyes but now those eyes have been opened.  She is willing to make phone calls and help hunt down specialists, should we need more.  I nearly cried that she was supportive from a medical perspective - it means a ton.  We have been in a lonely place.

 

Awesome.  I hope it all works out for you.

 

I'm at the point where I'm hoping the progression I'm dealing with is slow enough that middle son can get into med school and find me some decent contacts.  I don't have to convince him either.  I think that makes a huge difference.

[Ottakee]

Never give up have you had him tested for mitochondrial myopathies? My girls have mito issues and a lot of the same symptoms

[nevergiveup]

Never give up have you had him tested for mitochondrial myopathies? My girls have mito issues and a lot of the same symptoms

Nope--it was never suggested and I have never heard of it.

Off to Google.  Thanks!

[wapiti]

nevergiveup, take a look at this more for a general explanation of the various cycles and then look at this PDF, especially page 227 and after for CBS (these links are both Yasko explanations that I've been combing through today).

[Ottakee]

Nevergiveup check out http://www.umdf.org/site/pp.aspx?c=8qKOJ0MvF7LUG&b=7934631 for more information.tion

[nevergiveup]

 I posted a quote that I received from a geneticist in my original post.

 

[SparklyUnicorn]

 I posted a quote that I received from a geneticist in my original post.

 

Doesn't surprise me.  Didn't want to say that to you when you first posted about it, but I thought that would be the answer you would get.  Some people here had recommended I do the testing, and I read several things on-line saying it's usefulness is highly limited.  On top of that the company essentially does it to use the data (for who knows what).

[nevergiveup]

Thanks, Sparkly--but you shouldn't have felt the need to restrict your opinion! 

That's why I came here :001_smile:

[creekland]

Your update doesn't surprise me at all.  You really are in a totally new field of combining genetics and medicine/lifestyle.  It IS too new to have recommended things because studies take years.  You're going to have to search online to see what is going on, read it with a sprig of uncertainty, and make your best guesses.  All anyone can do with new things is their best guess.  It's been the same way throughout history.  Perhaps you can find someone involved in the research to work with and perhaps not, but even then, they're guessing.

 

Middle son, in many of his classes at his research U, has often been told (by profs) that what they are learning about is too new for textbooks.  It's ongoing research - some of it might make textbooks in a few years.

 

This is totally different than what I'm dealing with (system-wise).  Mine is their unwillingness to check into other options and I can't get around that roadblock.  If they tested and didn't find positive conclusions, that would be one thing - and more similar to that "unknown."  Jumping to conclusions without testing for some plausible options is what has made me so frustrated.  I can't comprehend why they would do that.

[ktgrok]

Yup, at this point we have more data than knowledge. Lots of data points, but no idea that they MEAN as far as health, lifestyle, etc. Honestly, it's more something to keep in mind than something to jump on and treat. Because there is 1. not a lot of evidence that these things all need treatment and 2. what that would be if they did. 

 

In other words, some of these things are probably "normal abnormalities". Descriptions, not diseases. Now for me, I have multiple mutations effecting B12 methylation and use in the body. If my B12 levels are fine, and I'm not anemic, and I feel good, probably nothing to DO about it. But knowing what I know does explain why I tend towards anemia, and does change how I treat my anemia when it pops up. Years ago, with trial and error I learned that my anemia corrected much faster if I took B vitamins with the iron, and now I know why. 

[kewb]

If there is one thing I have discovered, it is that once you enter the grey area of medicine, that area that does not align with standard medical stuff, you are on your own. Most docs don't know and won't admit they don't know what they don't know. Will tell you that you need to see a shrink. Will only offer symptom relief that may or may not work.

It is arduous, torturous, and lonely as all get out.

For those who lucked out and found helpful diagnosticians right away it is a very different experience from the rest of us.

Edited August 2, 2016 by kewb

[ktgrok]

My friend does seen an integrated medicine doctor of some kind,that uses genetic results to design a supplement plan, but I take it with a large grain of salt. He has my friend on about forty pills a day. Plus a diet limiting most food. I'm not sure that's really what our bodies need as a general rule. 

[SparklyUnicorn]

If there is one thing I have discovered, it is that once you enter the grey area of medicine, that area that does not align with standard medical stuff, you are on your own. Most docs don't know and won't admit they don't know what they don't know. Will tell you that you need to see a shrink. Will only offer symptom relief that may or may not work.

It is arduous, torturous, and lonely as all get out.

For those who lucked out and found helpful diagnosticians right away it is a very different experience from the rest of us.

 

I can relate to this.

 

What is particularly surprising to me on top of this is how often they DO prescribe treatments that turn out not to be tried and true treatments but shot in the dark experiments.  Which has its place, but I think they should admit to the fact they don't know the outcome.  Some doctors may be slow and unresponsive to try stuff, but then the other end of that is doctors who prescribe stuff easily.  I'd actually prefer the precaution unless we are talking about something life threatening.  Although being born is life threatening....so....

[SparklyUnicorn]

My friend does seen an integrated medicine doctor of some kind,that uses genetic results to design a supplement plan, but I take it with a large grain of salt. He has my friend on about forty pills a day. Plus a diet limiting most food. I'm not sure that's really what our bodies need as a general rule. 

 

Ugh geesh.  And that could be more harmful than doing nothing! 

[ktgrok]

Ugh geesh.  And that could be more harmful than doing nothing! 

 

Not to mention the cost....several hundred dollars a month in supplements!

[TechWife]

 

Doesn't seem it should be this complicated and that I should have to figure it out on my own.

 

 

 

 

In this context you are talking about the brain. In the other posts you are talking about genetics (which can impact the brain). Of course it's complicated. People spend years studying this stuff - we are just getting started with brain research and genetic research is in it's infancy. You certainly don't have to figure things out on your own, but you do need to realize that there are things that will never be figured out during our lifetimes. That's the nature of research. 

[SparklyUnicorn]

Not to mention the cost....several hundred dollars a month in supplements!

 

Reminds me of the Big Bang episode where Sheldon tells Penny that buying supplements makes mostly for expensive urine.  How much is one's body going to use of all of that?!

[TechWife]

Reminds me of the Big Bang episode where Sheldon tells Penny that buying supplements makes mostly for expensive urine.  How much is one's body going to use of all of that?!

 

Also, how does all of it affect the liver? 

[SparklyUnicorn]

Also, how does all of it affect the liver? 

 

Yeah I think people assume supplements are freebies.  They don't count as substances because you don't need a prescription.  This is absolutely not true.  I encounter more and more doctors who ask people what supplements they take because it can matter. 

 

I had my hair dyed first time in a salon couple of weeks ago and they asked me if I drink more than 2 cups of coffee a day.  Apparently this can have an impact on dying one's hair?!  Never heard that before. 

[wapiti]

The liver is a very good point to raise.  Indeed, it's kinda the goal for some of this testing.  Geneticgenie will indicate the 23andme genes that affect processing through the liver; IIRC, there's a phase 1 and a phase 2, either or both could be slow or fast.  (e.g. my ds has fast phase 1 and slow phase 2, so that there's a bottleneck, or at least that's the theory!  I haven't gotten around to learning how solid that is, but it may be among the more-researched points here.  Not that I can remember which genes they are but I have that somewhere around here.)  There are supplements to help with liver processing, e.g. the broccoli one but especially NAC, but other supplements would seem to increase the load on the liver, and some people can't tolerate NAC (e.g. people with CBS mutations, which ds does not have).  The liver is where a great deal of methylation takes place - LOL I read that yesterday and I don't quite get that.  The complexity here is mind-boggling.

 

Right now I'm trying to decide on the most basic supplement plan for my dd, who is compound heterozygous for mthfr (as in, just 1 or 2 vitamins in the B family), and I think I've determined that she needs to avoid folic acid, as that would very much explain some mystery issues she has with food (e.g. why is the organic bread she eats ok, but regular pasta makes her feel bad).  I'm downright appalled at the enormous amount of supplementing - with synthetic vitamins - that goes on in processed food.  Every time we eat an ordinary wheat product, we are supplementing ourselves.  I think for some of us, it's far too much.

Edited August 2, 2016 by wapiti

[SparklyUnicorn]

 

 

Right now I'm trying to decide on the most basic supplement plan for my dd, who is compound heterozygous for mthfr (as in, just 1 or 2 vitamins in the B family), and I think I've determined that she needs to avoid folic acid, as that would very much explain some mystery issues she has with food (e.g. why is the organic bread she eats ok, but regular pasta makes her feel bad).  I'm downright appalled at the enormous amount of supplementing that goes on in processed food.  Every time we eat an ordinary wheat product, we are supplementing ourselves.  I think for some of us, it's far too much.

 

I'm torn on this.  I have one kid who has always been a lightweight.  Anytime he ate breakfast cereal (the types aimed at kids) he'd have major green poop.  WTMI I'm sure.  LOL  But then I have another kid who is so gosh darn picky with food that I think the supplementing in some foods is what is keeping him healthy.  I've complained to the doctor about his pickiness, and they just ignore me because he's perfectly healthy.  So I continue to buy that stuff because for him that's been a good thing.

 

Historically speaking though prior to them regularly enriching wheat products people were having major issues because when they process the wheat in the end there isn't much nutritional value left.  And let's get real, a lot of people aren't going to grind their own wheat fresh for bread and stuff. 

 

In terms of the bread vs pasta, they generally use a different type of wheat in pasta.  Maybe that is it and maybe it is not. 

[Janeway]

That's pretty cool! You got lucky. :)

 

My regular doc is a House type, and it's pretty amazing to see a talented diagnostician like that at work.

 

Can you share what you had?

A rare reaction to a common medication. My arm was hurting, a lot. It was completely throbbing and had me in tears. I still have damage now. The medication was an anti-depressant. 

 

He ran a lot of tests and went through my history with a fine toothed comb. He even went so far as to call the manufacturer and yep..there it was. That was a rare reaction, but was known to exist. I got off the medication and was better by the last day of vacation. 

Edited August 2, 2016 by Janeway

[wapiti]

Historically speaking though prior to them regularly enriching wheat products people were having major issues because when they process the wheat in the end there isn't much nutritional value left.  And let's get real, a lot of people aren't going to grind their own wheat fresh for bread and stuff. 

 

My issue today is particularly with folic acid, a synthetic not truly equivalent to folate for everyone, and as far as I know, even natural folate wasn't a significant component of wheat (say 4% folate as opposed to 25-50% folic acid of the folate RDA per serving of cereal; unfortunately, the terms folate and folic acid are often used interchangeably when they are not entirely chemically identical).  It was added beginning in the early 90s, with a federal mandate in the late 90s, solely for pregnant women to reduce neural tube defects. But as with many nutritional things, one size does not fit all, and a large percent of the population process this synthetic vitamin much more slowly.  It is controversial, even with regard to fueling growth of existing cancer and such.  And, when I look at a serving of cereal, some people may be doubling that, getting 100% RDA at breakfast alone, before even lunch (bread) and dinner (say, rice or pasta), easily exceeding what may be healthful for a person even without a genetic disadvantage.  Sorry, just ranting...  if there is going to be supplementing without what I'd consider sufficient scientific info, I'd rather decide for myself.

Edited August 2, 2016 by wapiti

[Spryte]

A rare reaction to a common medication. My arm was hurting, a lot. It was completely throbbing and had me in tears. I still have damage now. The medication was an anti-depressant.

 

He ran a lot of tests and went through my history with a fine toothed comb. He even went so far as to call the manufacturer and yep..there it was. That was a rare reaction, but was known to exist. I got off the medication and was better by the last day of vacation.

Ouch, I'm sorry it's still affecting you, but what a fabulous doc! Wow! You were in the right place at the right time. I'm so glad it saved a day of your vacation, too.

 

I didn't mean to be nosy, I'm just fascinated by this stuff. Like I said above, I had 13 chronic infections - weird ones - and that was unusual enough. And then some crazy reactions to meds. It was nuts! Hearing about other people's unusual stuff makes me feel less ... I don't know, freakish? That's not quite the right word, but close. :)

[creekland]

Hearing about other people's unusual stuff makes me feel less ... I don't know, freakish? That's not quite the right word, but close. :)

 

Same here.  I'm not sure which word to use either, so I'll go with what you have.

 

I actually put a wee bit of effort into looking toward another path last night and this morning.  Of course, that was helped out by Saturday and the first half of Sunday reminding me that I really ought to do something... but yesterday itself was a good day and I rarely bother on good days (keeping the hope that the body will fix itself).

 

I didn't make any progress though (sigh).  I thought I had a decent lead, but it was dashed upon closer inspection - something to do with a doctor getting on probation (legally) due to enjoying relations with a married patient - definitely NOT anything I want on my mind at a doctor's office, even if he gets great reviews now.  (Others are welcome to different opinions on something like this, of course, it's just a dealbreaker for me.)

 

[TranquilMind]

I am seriously glad it worked for you, but I still say telling everyone that "just see a doctor" will work for them sets folks up to potentially be severely frustrated when what is supposed to happen doesn't.

 

I went to a place that is supposed to be Top 5 in the nation.  It was no different at all than my local doctors.  Well, wait.  There was a difference.  I had to take time off work and appts cost more than twice as much for both me and the health share we belong to.  I wouldn't have minded the cost if they had actually tried to determine a cause beyond the basics which the local docs had already ruled out.  They never did - in a year's time.  Google tells me there are other options.  Folks on the Hive have even found other possibilities to consider.  Even when I specifically asked for those to be tested, all I got was "no, take these meds to suppress symptoms instead" or no response at all (pending which doctors we are talking about).  The meds, of course, have more potential issues to them than just saying "take two aspirin and call me in the morning" and they fix nothing.  They only cover it up while causing fatigue, etc.  I don't have fatigue at the moment and I don't want it - or anything else that can come with the meds.  That does not bother them at all.

 

My story is not the only one.  I've read most on the Hive since starting to have more serious issues - working on building up my medical knowledge since previously my science background was Physics/Chem or medically I knew basic Bio and first aid.  The issues others have are all different than mine, but many, many times the response from doctors is eerily similar.  I'm pretty sure they write some of us off as crazy.

 

It's nice to know what is supposed to happen works sometimes, but to assume one will be in that group could drive one mad.  BTDT and now really turned off from the medical system - while at the same time getting to be a cheerleader for a son heading to med school. Very weird situation TBH. My hope is that he keeps his current attitude and can end up leading me to others who might be able to help.  He's already provided more info than what I've gotten officially - from him and his contacts.

 

Anyone dealing with something not figured out by docs (assuming all originally start there), needs to know it's not necessarily them and they won't necessarily get help like they expect - even if they pay top dollar and head to fancy places.

 

No kidding.

 

I had a sibling who died young.  This one found an experimental treatment and demanded the doctors try it on her.  Her multiple SPECIALISTS had not even heard about it.  She had to do the work (and this was before internet days).

 

Nothing has changed.  You have to know the condition better than the doctor and have done your homework to get adequate treatment, unless you just get lucky.