diamondcut Posted August 10, 2012 Report Share Posted August 10, 2012 Hi everyoneJust had results back from 23andme, i can make sense of some of it, until the whole DNA sequencing begins and then it quite honestly loses me, i would really like to get a better understanding of this as i have persuaded my GP to refer me to a Genetics center in Birmingham (UK) and also to have any more in depth auto immune factors thrown in there for good measure to be looked at. I have type 1 Diabetes and suffered from Psoriasis, both kicked in at puberty, i also have EDS, could i be someone one who has PD/HYPER and autoimmune POTs?Anyway if there is anyone who can spare a few moments in their spare time to help me work this DNA stuff out as i want to be prepared when i get infront of the next lot of specialists and know the right questions to ask.Thank you............. Quote Link to comment Share on other sites More sharing options...
issie Posted August 10, 2012 Report Share Posted August 10, 2012 Diamond,If you download your info into promethease (It's listed on the site as aids.) you will get more info. You have to go into your account and look under raw data and then download it to your computer. Then download that to the other program. It's worth paying the $2.00 U.S. to download faster. Right now you can't download the raw data - cause they are updating some things. But, when you can it will detail even more for you.Issie Quote Link to comment Share on other sites More sharing options...
Dizzysillyak Posted August 10, 2012 Report Share Posted August 10, 2012 I don't understand this either but I saw an interesting article on celiac genes by dr lewey wherehe explains genetic testing. Just google "celiac genes lewey" and it's on celiac dot com. Tc . D Quote Link to comment Share on other sites More sharing options...
issie Posted August 10, 2012 Report Share Posted August 10, 2012 Look at what you flagged highest on as a possibility and what genes you carry that can be passed on. When I first got mine - it was Greek and now it's got a little English mixed in. Ha!Ha! What did you show on MPN? That's where the connection with mast cell comes in. Whatever you flag high on - take a look and see if there are possible issues that would relate to you. When you download into promethease you will have more markers showing whether or not you have a likely hood of having EDS. It shows those markers more for you. You can also look up specific genes and see if there are any no calls - which means they couldn't determine for sure.Keep in mind. Just because things show up in your genetics ---it does not mean that it will happen to you. Something has to trigger these genes to activate. I have a whole lot of alleles that have only one positive side and one negative. Which means that there is a stronger likely hood of me having the issue - but, not positive. But, not as good as if there were no mutation in that gene. I have a bunch of positives -or what's not considered the normal and on those there is a much higher chance of any issue.If you look under some of the headings of each one that you show positive for - there will be a whole lot of conversation from people with questions in regards to what this may mean. I try to read all of those and have learned a lot that way. Then GOOGLE is your friend. Look up and read whatever you can about it.I wish you had more time. I've had months and it has taken that long for me to even start to understand some of this. You can take your results with you and show them what your test shows - you can print out a whole lot of it. Maybe the geneticist can help decipher some for you.Have you learned anything of interest so far that may determine some answers for you? What it helped me to know is a whole lot of my issues are genetic related and IF big "IF" there is a way to turn off this or at least tweak it - then we might get some relief. Treating the symptoms may be all we can do ----but, that's not going to stop this. Nearly everything I'm dealing with can be explained by mutations in my genetic makeup. That can even happen before birth. So, it's an interesting study, very complex and also for me a little bit of a reality check.I've sat for hours reading and trying to understand. Just be patient with yourself and you will with time start to understand some of this. We are educating ourselves. If we had professors taking us step by step through this learning process ---it would be a whole lot easier. And we could ask questions as they come up. But, we're trying to self educate and that's pretty hard. We must all be a pretty smart bunch of people here to even try to tackle these complex things that others go to school for years to learn. Or, we're just so desperate that we are trying to increase our 10 percent of use of our brains to be at least 12 percent. Issie Quote Link to comment Share on other sites More sharing options...
issie Posted August 10, 2012 Report Share Posted August 10, 2012 Here is an article showing what gene research and noting issues may do for medicine. Part of the study with 23&me is to determine which meds with our genes we will react to the best. This article explains some of this.http://qjmed.oxfordjournals.org/content/93/7/391.fullI also looked up the Celtic Gene and that doc that dizzy was talking about. I have to agree. I didn't test positive for issues with gluten, but have found that if I stay off gluten I feel much better.Issie Quote Link to comment Share on other sites More sharing options...
diamondcut Posted August 10, 2012 Author Report Share Posted August 10, 2012 Diamond,If you download your info into promethease (It's listed on the site as aids.) you will get more info. You have to go into your account and look under raw data and then download it to your computer. Then download that to the other program. It's worth paying the $2.00 U.S. to download faster. Right now you can't download the raw data - cause they are updating some things. But, when you can it will detail even more for you.IssieThanks IssieJust downloaded that now, looks veryyyyyy complicated, i am deterimed to try and read as much as possible though, do you know how much it does cost to get someone from 23ANDME to analyse your data to what flags up, especially if i wanted to take it along to my specialist in couple of months time Quote Link to comment Share on other sites More sharing options...
issie Posted August 10, 2012 Report Share Posted August 10, 2012 The raw data is complicated. When you load it into promethease it will be a whole lot clearer for you. Sorry, no don't know how much they charge.Issie Quote Link to comment Share on other sites More sharing options...
diamondcut Posted August 10, 2012 Author Report Share Posted August 10, 2012 I dont appear to have a any "carrier" genes flag up, but when it comes to Drug Respose, Interferon Beta therapy i have a increased odds of responding. This is a drug for MS. So forgive my igonrance with this as i am so new to it, does this mean only if i developed MS this drug could help, seeing as though MS is a type of form of Dysautonomia could that particular type of therapy help in POTs?Have you as yet tried medicines that you believed would help your case as a result from 23andme yet? Quote Link to comment Share on other sites More sharing options...
issie Posted August 10, 2012 Report Share Posted August 10, 2012 I have markers for MS too, but it's not for sure that this will happen. I also have markers for Parkinsons (which by the way was my first DX before they figured out POTS - I don't at this time have Parkinsons). From the way I understand, if you get MS then you will probably respond well to this drug. You would have to ask the doc if it might would help with your symptoms. I have found autoimmune issues to be a part of my picture. I have tried alternative things based on my 23&me results and yes - seeing improvement.Issie Quote Link to comment Share on other sites More sharing options...
diamondcut Posted August 10, 2012 Author Report Share Posted August 10, 2012 Well again thanks for your comments, Im in the referral faze for seeing a Geneticist and Immunologist so it could be anything up to 3 months wait, but any questions you what me to ask in mean time write down and let me know. I feel its going to be a long night glued to the laptop!!! Oh how i wish the days of Friday nights being a party animal could exist still !!!!! Quote Link to comment Share on other sites More sharing options...
issie Posted August 10, 2012 Report Share Posted August 10, 2012 We just party in different ways now. Some day maybe we'll catch a glimpse of the younger us before problems overwhelmed us.Issie Quote Link to comment Share on other sites More sharing options...
McBlonde Posted August 10, 2012 Report Share Posted August 10, 2012 I was just researching how much it would cost to have genome sequencing with an analysis from a geneticist and read this... wow, 50 MILLION possible mutations?! I had no idea."With the dramatic reduction in direct genome-wide sequencing costs, it may make sense to perform such genetic analyses on rare diseases to build up databases on different mutations that might cause various pathologies. However, in the near future, this will most likely not be particularly helpful to those unfortunate individuals that are afflicted with these diseases. The real cost for disease diagnosis by gene-wide sequencing will really come from the labour involved in the analyses of the DNA sequence data, including sorting through some 50 million possible mutations and common genetic variations that will have nothing to do with the manifested disease in the patient. The frustration will come when it is realized that there still is not much that can be done for most of these rare diseases without further research and development into these illnesses." Quote Link to comment Share on other sites More sharing options...
issie Posted August 10, 2012 Report Share Posted August 10, 2012 Shhhhh! McBlonde - we don't want to look at it that way. We have to have hope that some of this genetic testing is going to sort something out for us.But, you see what I mean by "a reality check". 23&me test over 100,000 snps. So, it is quite a bit of testing - it's sorting the data out and finding out what it means that's the hard part.Issie Quote Link to comment Share on other sites More sharing options...
diamondcut Posted August 10, 2012 Author Report Share Posted August 10, 2012 Lol can you imagine if they searched our handbags now days if we went into a club on a night out, they would find lots of pills, but not of the kind bouncers would expect Just a quick question IssieI read an old post about olive leaf helping with Candida, Im struggling and Nystatin is hurting my tummy despite being used on young born babies, did you use the olive leaf as capsules or is it a herb you can boil up? Also have you tried boric acid for fungal type issues, been told can be helpful.Have good eveing or is it day time in the US? Quote Link to comment Share on other sites More sharing options...
diamondcut Posted August 10, 2012 Author Report Share Posted August 10, 2012 My GP made a veey good point to me aswell that even if we did recognise a mutation in our DNA, to have your insurer's pay for treatment or possible further investigation is another battle, but what do we have to lose, we have to try. Quote Link to comment Share on other sites More sharing options...
McBlonde Posted August 10, 2012 Report Share Posted August 10, 2012 This organization has the right idea at how it could work. If I remember right (that a 50/50 chance, lol) anyway, I think this non-profit was set up by a hedge fund guy who had made gazillions of dollars and had an incident in his life involving a child with a rare disease who had a mutation that was found and could be treated. So, the hedge fund guy set up this non-profit for children with rare diseases that need genome-wide sequencing, analysis and treatment.... The way the whole thing is organized is brilliant. If only we had something similar....... http://raregenomics.org/about.php Quote Link to comment Share on other sites More sharing options...
issie Posted August 10, 2012 Report Share Posted August 10, 2012 I use olive leaf in capsule form. Have not used the boric acid you listed. Nystatin was way too strong for me. Good probiotics, enzymes, olive leaf and diet change is what helped me the most. I've also read that coconut oil is very good. Oh my, yes - they'd wonder why we weren't drinking and walking around dizzy, not to mention half the time sounding like we're drunk and not making sense (brain fog). LOL McBlonde - that is actually in the works. Whether or not there will be a connection with POTS or not - they are actively trying to figure out. I know someone helping with the program of finding rare snp's for things. It' won't be long and we can download our 23&me into it. Will be interesting to say the least.Issie Quote Link to comment Share on other sites More sharing options...
issie Posted August 10, 2012 Report Share Posted August 10, 2012 I was just looking up the site that you listed McBlonde. Barrow Neurological is here in Phoenix and is participating in this effort for genetic research. So, wonder if they may be of help with gentics in relationship to POTS. I'll probably wait and do my download into the site that I talked about earlier and find the rare snps first and then go from there.Issie Quote Link to comment Share on other sites More sharing options...
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