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Thank you Jimmy Fox for that reply. Although @KS3505's comments are over 3 years old, I find
these issues still apply. I hope @KS3505 has gotten some help and answers by now with their child. It is encouraging to read that you have the finances of your patients in mind and that you are updated with the genes we test here, to treat them. I am fortunate also to have found a doctor who uses 23and Me to treat patients. I went in last year for MTHFR issues and methalation readings to do with digestive and allergy reactions. It has big a big help. For anyone who comes back on this site, I wish you all well and feel it's worthwhile to keep looking for help with these health challenges and to keep asking questions.

Being a physician who uses genetic testing on patients I often suggest 23andme and LiveWello as being the most economical method of obtaining the information they need without breaking the bank. Going through regular lab providers can be very costly as well as limiting in scope. When you encounter any doctor that scoffs at this method of obtaining needed information, find another doctor. They do not have your health, and or your pocket book, in mind, just their bottom line.

Those tyoes of doctors are to be avoided at all costs, a good doctor can pull apart the 23 & me results and provide meaningful solutions

We were instructed to use 23 and me and Livewello from our Natrupaths Dr.

@HU7769 - the geneticist I will be seeing at Stanford in the Marfan Clinic is not an MD. He seems to be very good, and in fact spent about 45 minutes on the phone with me recently. He called to cancel an appointment I made. It is a four hour drive for me to go there, and he called to save me a trip, because the things he wanted to test me for have just been identified, and the gene test is not available yet. So he suggested we wait six months until he can do the specific testing he is interested in.

I talked to a doctor and genetic counselor who until recently worked at 23andme. She said that the raw DNA results are correct but these sites that read the results are not always correct and are very often incorrect because of the forward, backward strand reading. I didn't quite understand it completely but I can see how the translation and percents can be squ'ued. She said not to panic because most of what I will read is incorrect. She said call your insurance company to find a genetic counselor first, most doctors will be clueless. Access to DNA is a fairly new thing and it will take years for doctors to catch up, genetic counselors have studied these specific things. Good luck!

Functional Medicine doctors/ Naturopathic Physicians are generally trained in interpreting SNPs and incorporating nutri-genomics into your health care. Dr. Kate Kass is an excellent Functional Medicine Physician who genomics into her treatment plans for patients. She has an clinics in Bellevue, WA and Kirkland, WA

They are ignorant on interpreting snps. Look for doctors who study genetics. I was fortunate to have one in my backyard. As he says, it is going to take a paradigm shift for doctors who are used to treating symptoms. Many of the snps CAN be interpreted AND be treated. For instance, my gson has heterozygous MTHFR C677T/A1298. It effects his mental status. We lucked out with a psychiatrist who understood the significance and sent us to a geneticist. It is treatable with methylated vitamins (not ordinary health food vitamins) and prescription vitamins. Keep looking! (and let us know!)

I apologize if this response has already been covered, but there are just too many responses to read them all.

I have seen 20 or so different doctors in the past year for my medical mystery, not counting the ER, and they include local docs, regional university docs, and Mayo docs. They come in two groups: combative/dismissive and openly worried. The combative group tends to be younger with less experience and a bigger ego. Expect to be told it's all in your head and/or that research you have done on your own is invalid. The worried group accepts your research, although they may disagree, but they usually refer you elsewhere and admit they have no idea how to help you. (Not surprisingly, Mayo docs were the most open.). My geneticist was somewhere in the middle. The problem with giving a geneticist info from a direct to consumer test is they don't usually trust the methodology... But then he/she could always run the gene sequence in question to validate. Unfortunately, you the patient or the patient advocate will never be able to convince a combative doc to lower his/her guard.

I see it has been 10 months since your post. I would be interested in knowing what has been the outcome? I am at the beginning stages of working through my DNA, am kind of a do-it-yourself type so I did not take the shortest path to find results. Regarding the Doctors commends, I have found the same thing with a number of Doctors/Physicians that can neither provide answers to my questions then scoff at my DNA attempts to determine if any of my issues are genetic. I have been working with a Natural path Physician who told me what I was likely to hear from the Dr's. She was dead right and is now working with the DNA results as well as a large number of blood tests which revealed a substantial number of virus and other issues that the Physicians never checked. She did explain that sometimes, as in my case, there was not one cause, but many contributors. Also, that getting better was not a sprint but a marathon. So I am doing better but still have some additional analysis and treatment. I ran into a good friend that had lost contact with about 5 ... More

I see it has been 10 months since your post. I would be interested in knowing what has been the outcome? I am at the beginning stages of working through my DNA, am kind of a do-it-yourself type so I did not take the shortest path to find results. Regarding the Doctors commends, I have found the same thing with a number of Doctors/Physicians that can neither provide answers to my questions then scoff at my DNA attempts to determine if any of my issues are genetic. I have been working with a Natural path Physician who told me what I was likely to hear from the Dr's. She was dead right and is now working with the DNA results as well as a large number of blood tests which revealed a substantial number of virus and other issues that the Physicians never checked. She did explain that sometimes, as in my case, there was not one cause, but many contributors. Also, that getting better was not a sprint but a marathon. So I am doing better but still have some additional analysis and treatment. I ran into a good friend that had lost contact with about 5 years ago. Turns out his wife was having other problems but was so frustrated with the Physicians that she had gone down the same path and was about 6 months ahead of my path. But she is doing so much better and swears by the Natural Path. So, if you get a little free time and wouldn't mind, please give us a status of progress. Less

The suppose the snappy rejoinder would have been. "Yes, 23andme tells me nothing - that's your job. Just like the lab doesn't tell me what's going on with my blood tests - you do."

Tom Ballard, ND
Natural DNA Solutions
Providing comprehensive genetic health reports with treatment options for maximizing genetic wellness

Problem is they don't know how to decipher the info.so get defensive.My Naturopath has just received report and will be in touch with me to explain and readjust supplements. What an Era to live in! Amazing.I am so grateful.

I hired a genetic counselor who said 23 and me was a great starting place, the just touch the surface on a handful of genes. If you have specific issues you must pay for a more comprehensive test. For me it's a cancer screen, cost is around 350. I'm not sure I am ready to do that.

I have taken my son to two geneticists. Both told me that everyone carries thousands of mutations but since they are just in the "infancy stage" of learning what the genetics will mean, they can't tell us with any certainty what the mutations mean. That is unless they find one in the list that is found to be causative with more certainty. Many of the mutations are found to be associated to something negative(or positive) but that doesn't meant those things will happen. Some are just "background noise" from what I am told, meaning they are there but mean virtually nothing. Some genes require co-genes to develop into a problem. Or they can mean you are more susceptible to something but it still doesn't mean those things will happen. My son carries mutations for AMPD1, which causes muscle fatigue with activity. He does have that as well as POTS and since the mutation was homozygous for the AMPD1, the geneticist correlated it to his muscle fatigue. That was a documented proven connection, whereas most of the mutations found in 23andme have not been researched enough to know if they are causative. You can ask for "whole ... More

I have taken my son to two geneticists. Both told me that everyone carries thousands of mutations but since they are just in the "infancy stage" of learning what the genetics will mean, they can't tell us with any certainty what the mutations mean. That is unless they find one in the list that is found to be causative with more certainty. Many of the mutations are found to be associated to something negative(or positive) but that doesn't meant those things will happen. Some are just "background noise" from what I am told, meaning they are there but mean virtually nothing. Some genes require co-genes to develop into a problem. Or they can mean you are more susceptible to something but it still doesn't mean those things will happen. My son carries mutations for AMPD1, which causes muscle fatigue with activity. He does have that as well as POTS and since the mutation was homozygous for the AMPD1, the geneticist correlated it to his muscle fatigue. That was a documented proven connection, whereas most of the mutations found in 23andme have not been researched enough to know if they are causative. You can ask for "whole exome testing" where the geneticist can test your genome through a genetics company, they are up to date on what genetic mutations can actually cause something. With all the mutations we found in 23andme, GeneDx only found one for my son that causes Brugada, something 23andme told me nothing about. It is very serious and can cause a fatal heart arrhythmia so we had more testing done with a heart doctor. In 10 years, genetics will know so much more, so I guess my suggestion is to research the mutations yourself and if you have any grave concerns about any of them, ask the geneticist to tell you what that means for you. Seek a new geneticist if you have to.
One thing is for certain though, your doctors shouldn't be laughing it off, they should take your concerns seriously.
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In my experience the usual allopathic MD does not have the background, knowledge or experience with genetic testing results. I use and Integrative MD and a Naturopathic to discuss results and address issues and plan for my future health. I suggest you find one.

@WO3477 - also keep in mind that only 20% of heritable connective tissue disorders have been gene identified. If I had gone to a doctor familiar with HEDS, that's probably the diagnosis I would have gotten based on 9/9 on the Beighton scale in spite of my age (60 - people generally get less flexible with age). However, the doctor I was seen by is more interested in the aortic and vascular issues of those with connective tissue disorders. Because of my presentation and family history (mother died of dissecting aorta, first cousin died suddenly of an undiagnosed heart issue in his forties- I suspect it was an aneurysm because he was healthy and active). Even though in the words of my doctor, "You certainly fit the criteria for HEDS", I did not get that diagnosis, other than being able to use it for physical therapy. She did a very thorough exam which included not only the recommended echocardiogram (which I personally feel EVERYONE with a hypermobility syndrome should have), but also an MRI/MRA of my neck and abdomen. That is when she discovered the aortic root aneurysm. Interesting, since my mother died of an aortic dissection at the ... More

@WO3477 - also keep in mind that only 20% of heritable connective tissue disorders have been gene identified. If I had gone to a doctor familiar with HEDS, that's probably the diagnosis I would have gotten based on 9/9 on the Beighton scale in spite of my age (60 - people generally get less flexible with age). However, the doctor I was seen by is more interested in the aortic and vascular issues of those with connective tissue disorders. Because of my presentation and family history (mother died of dissecting aorta, first cousin died suddenly of an undiagnosed heart issue in his forties- I suspect it was an aneurysm because he was healthy and active). Even though in the words of my doctor, "You certainly fit the criteria for HEDS", I did not get that diagnosis, other than being able to use it for physical therapy. She did a very thorough exam which included not only the recommended echocardiogram (which I personally feel EVERYONE with a hypermobility syndrome should have), but also an MRI/MRA of my neck and abdomen. That is when she discovered the aortic root aneurysm. Interesting, since my mother died of an aortic dissection at the age of 70. Mine is small and hopefully will not grow to a problem size; it is being watched. A doctor or practitioner quick to diagnose HEDS might not have gone far enough. Because of the aortic aneurysm, I do NOT have the diagnosis of HEDS, because this clinic at a major, internationally-ranked medical center does not feel that HEDS affects the aorta. I know that is controversial and many people feel it does (statistics show about 10% of HEDS have aortic enlargement). My clinic's theory seems to be that if your aorta is enlarged, even if you have all of the symptoms of HEDS, it is instead an undiagnosed inherited connective tissue disorder that simply has not been gene-identified (as I said before, only 20% have been). I have donated my DNA to the John Ritter Research Foundation as they are searching for other genes that can be linked to CTDs that affect the aorta. Less

23 and Me only checks for snps, not genetic mutations. A snp is simply a variance of the norm. It doesn't cause disease but can predispose to it. A mutation is a permanent alteration in DNA sequence. To determine if you have a mutation, you would need to have mutation specific DNA testing done at a genetics lab.

BTW, most cases of HEDS are congenital or epigenetic, not genetic. That's why they haven't found a causative gene other the small subset w/Tenascin X Deficiency. The causative mutations for all the other types of EDS, which are truly rare, were found decades ago, long before the advances in technology we have today were available. While the incidence of HEDS has increased exponentially, all other Types have pretty much remained the same. Ipso facto! When I was dx'd the incidence was 1:20,000 - 50,000, now, less than 1 generation later, it's estimated to be greater than 1:100, making it more common than the flu! Even if every HEDS patient was inbreeding and producing offspring with every blood relative annually, this in no way would begin to explain the increase. Up until 12 years ... More

23 and Me only checks for snps, not genetic mutations. A snp is simply a variance of the norm. It doesn't cause disease but can predispose to it. A mutation is a permanent alteration in DNA sequence. To determine if you have a mutation, you would need to have mutation specific DNA testing done at a genetics lab.

BTW, most cases of HEDS are congenital or epigenetic, not genetic. That's why they haven't found a causative gene other the small subset w/Tenascin X Deficiency. The causative mutations for all the other types of EDS, which are truly rare, were found decades ago, long before the advances in technology we have today were available. While the incidence of HEDS has increased exponentially, all other Types have pretty much remained the same. Ipso facto! When I was dx'd the incidence was 1:20,000 - 50,000, now, less than 1 generation later, it's estimated to be greater than 1:100, making it more common than the flu! Even if every HEDS patient was inbreeding and producing offspring with every blood relative annually, this in no way would begin to explain the increase. Up until 12 years ago, aside from my own family, I had only met one other case of EDS and that was back in the early 70s. As a full-time public health advocate for special needs for 17 years, I was in tune w/the chronically ill community across the nation. I can tell you, 20 years ago EDS was truly rare, as was chronic illness in general. So be informed, that contrary to what you may hear, the current HEDS epidemic is not a matter of misdiagnosis.

In my family, the inborn joint hypermobility was congenital, just like neural tube defects and other inborn collagenopathies. We can trace EDS back 4 generations to an Irish immigrant. EDS is prevalent among the Irish pop due to inbreeding among the gypsies. We have most the symptoms of VEDS and Type 1 plus HEDS 9:9 on the Beighton. Even so, our EDS is epigenetic. The snps behind the inborn collagenopathies also predispose to disease that is triggered by environmental exposures over the course of a lifetime beginning in the womb. I imagine most cases of HEDS are congenital, not genetic, and thus treatable. Treatable as in recovery, not palliative care.

Here where I live, none of the clinical geneticists consider HEDS genetic. One went so far as to tell me it's "a catchall for anything and everything that doesn't fit elsewhere". That's why the dx carries little if any credibility except w/the few docs who make a living dxing and treating it with drugs, surgeries and more drugs.

If you get diagnosed w/EDS, I would suggest asking the dxing doc to order DNA testing to confirm or rule out the suspected mutations. Chances are, those tests will come back normal because genetic disorders truly are rare. Doesn't mean you don't have HEDS, only that this syndrome isn't genetic. And the good news is, recovery is possible. I went from being a complete invalid back to my passion of sustainable farming. It took about 8 years from the time I discovered the etiology of MTHFR in HEDS along w/the connection to dysautonomia and mast cell diease to 80% recovery. One of the prof med researchers who contacted me told me that the only patients he knows who recover are those who do their own research and self-treat. And, of course, it's much easier to prevent than to recover. For my family, EDS was just a stage in the progression of the underlying disease process. I ended up w/multiple neuro-immune/inflammatory/degenerative disorders and a terminally ill dx. Most of those symptoms I was able to reverse or put into remission with diet and nutrition therapy called nutrigenomics by balancing biochemistry in harmony w/genetics. If I can do it, others can, too. :) www.mthfrheds.com
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My take is the Dr. is ignorant. The very fact that the Dr. said they test for everything should be good enough. Presented with the test the Dr. should interpret the results, not rely on someone else to do that.

You can narrow your search for a real doctor by looking at Naturopathic.org and for "functional doctors", many of whom are educated in genetic testing and treatment.

Tom Ballard, ND
Natural DNA Solutions

It's sad the our traditional medical system cannot treat illnesses by using the 23 and me genetic reports. The medical system is very limited in what they can and what they cannot do because the traditional medical system is based solely on scientifically proven illnesses and scientifically proven treatments and medications that have been scientifically proven to treat those illnesses. There's no room for anything other than those specific options. They cannot use results from 23 and me because it isn't generated by the medical system, it comes from outside the medical system.

It becomes very difficult for us as patients to understand why they cannot/will not use this valuable information to help us when we are so ill and searching for help wherever we can find it. Our seeking help outside the traditional medical field goes against the grain and is unacceptable for them.
They don't have the tools to help us....their hands are tied by protocols they're allowed to use. They can't use anything other than the allowed protocols as set up by the medical system.
It's all based on what has been scientifically proven, what shows up in ... More

It's sad the our traditional medical system cannot treat illnesses by using the 23 and me genetic reports. The medical system is very limited in what they can and what they cannot do because the traditional medical system is based solely on scientifically proven illnesses and scientifically proven treatments and medications that have been scientifically proven to treat those illnesses. There's no room for anything other than those specific options. They cannot use results from 23 and me because it isn't generated by the medical system, it comes from outside the medical system.

It becomes very difficult for us as patients to understand why they cannot/will not use this valuable information to help us when we are so ill and searching for help wherever we can find it. Our seeking help outside the traditional medical field goes against the grain and is unacceptable for them.
They don't have the tools to help us....their hands are tied by protocols they're allowed to use. They can't use anything other than the allowed protocols as set up by the medical system.
It's all based on what has been scientifically proven, what shows up in the scientifically proven test results and what can be treated by scientifically proven medications to treat the scientifically proven illness.
Unfortunately for us, our illnesses are not found in the scientifically proven medical testing provided and therefore don't exist.
The treatments that can help us are not accepted by the medical system as they are based on nutrition and nutritional supplements which can't be scientifically proven. This puts us in a very difficult position.

There is help available but it's few and far between. Our help is found in Functional Medical doctors or Integrative Medical doctors and other professionals who have gone beyond the traditional medical system's protocols and training. There is help and there is hope to be found. There are professionals around the country who will help you and will utilize the 23 and me testing results. Unfortunately, these treatments are not usually covered by insurance because they go outside of the approved medical protocols and pharmaceutical treatments.
Find whatever resources you can to help you help your child....don't let lack of funds hold you back. We could use some benefactors for help in funding the help we so desperately need but I don't know of any. There is help and hope for your child....I wish all the best for you as you seek more information. Less