Interpreting 23andme results

[BethattheBeach]

I am interested to explore my 23andme results but have not been able to find where I can access information regarding the genes.... we had our tests some years ago when it was first available. Can anyone help me navigate the site? Thanks, Beth

[fbirder]

AJay999 posted this link in another thread -

blog.stickyrice.net/archive...

I'm hoping to get my results in a month or two, I should be able to help more then. In the meantime Ajay999 is a good source of info.

[BethattheBeach in reply to fbirder]

Thanks a ton, fbirder. We were able to find our way through and the results are interesting.

I was TT for the first gene but AG for MTHFR C677T rs 1801133 which I think means I have a single copy of each mutation. Does this mean I have 40% loss of methylation?

[fbirder in reply to BethattheBeach]

I think the 40% refers to the frequency of the AG heterozygous combination. That means that half of your DNA can produce the correct enzyme, while half produces a defective enzyme. Just how serious that is depends on many factors, especially whether or not you have any other mutations in the MTHFR gene.

[BethattheBeach in reply to fbirder]

Thank you for replying. This is very new territory for me so I need to do some more research. I'm tempted to run the results through one of the sites Ajay suggested. Will you be tempted to do so? We were given a medical summary with our results which I believe is no longer offered.

[fbirder in reply to BethattheBeach]

The Genetic Genie site is very good for mutations affecting methylation. I'll definitely be using that when my results arrive.

I know that 23andMe had some problems last year because they were selling their service as a medical device. They then had some talks with the American authorities and only recently started up again. I wonder if the medical summary was something they were told to stop.

[BethattheBeach in reply to fbirder]

Thanks I'm really tempted to use the Genie site.

My results sheet from 23andMe lists things like markers for dementia, Haemochromatosis, restless legs, cancer, macular degeneration... a long list which did not throw up any real nasties, thank goodness. My husband and I found the results quite fascinating.

I think we heard that so much personal medical information was causing a problem and they were required to cease providing the information. We had to agree to seek counselling if we received distressing news. A distant cousin did have the dementia gene (dementia was suffered by many of her elderly female family members) so it was quite a sad result for her.

My GP dismissed the results saying if only we could find illnesses with a swipe of saliva!

[fbirder in reply to BethattheBeach]

The GP would have been better off giving a more truthful response.

Almost all these genetic things just show a predisposition to certain problems. There is an increased risk of something nasty, it doesn't mean you're going to suffer from the nasty thing.

Although Promethease pointed out that I have a heterozygous mutation is a gene called PTGS1 that makes me 12x more likely to bleed during coronory angiography. I might have to mention that if I ever need one.

[BethattheBeach in reply to fbirder]

Yes, it has to be better than complete ignorance - and could save a lot of trouble. I have always been a restless sleeper especially before I drop off... I have the restless legs predisposition, so now I know it is not entirely something I can control. BTW, my legs are so much better since my B12 treatments.

[fbirder in reply to BethattheBeach]

My restless legs have improved enormously since I've been taking the gabapentin for the peripheral neuropathy.

I used to get complained at when we were watching TV in the evenings. My twitching feet were, apparently, a distraction from the TV.

[BethattheBeach in reply to fbirder]

lol! Can't disturb the idiot box!

My husband would implore... then demand that I lie still. Often, I would bail out and use the guest room...sipping hot chocolate (milk for osteo') until I could settle down to sleep. I have probably had symptoms for 15 years!! If only I had thought to investigate.

Never mind, we are on the case now and things are much improved.

I will look into gabapentin because I am still very dependent on the jabs to keep the pain in my feet and knees under control. Are there any side effects?

I'm Downunder, thus the gaps in our chat.

[fbirder in reply to BethattheBeach]

The Gabapentin was a revalation for me. It removed the sudden stabbing pains that we're keeping me from sleeping properly.

The main side-effect that is mentioned is drowsiness. But I've not really noticed. The lack of sleep without them made me much more drowsy.

[Ajay999 in reply to BethattheBeach]

Hi - You MUST run the results through Genetic Genie as the information provided is 1st class and Free (although it's optional to make a donation. Make sure you run it through "methylation".

It was a real light bulb moment for me and helped explain why not only I have Functional B12 deficiency but so did my Father and Grandfather.

My only issue now is presenting it all to my GP who thinks I'm mad so a carefully worded letter is required - wish me luck

[BethattheBeach in reply to Ajay999]

Thanks, Ajay, I will look at Genetic Genie - it is just too tempting and might add more pieces to the jigsaw.

Good luck with your next Dr appointment. Can you take someone with you? My husband was able to defend me when the GP was trying to find other causes of my clumsiness. Also, a list of symptoms which almost disappeared after a recent jab.

I am so fortunate that my GP added B12 to my Blood test without my even knowing. I had only presented with emotional distress but in retrospect I had lots of peripheral nerve symptoms which I had put down to overwork. She immediately ordered Parietal Cell Anti (positive) and IF test (negative) and organised an endoscopy. Dr says I can have jab whenever I wish... I cried on the way home I was so relieved!

Actually, there were enlarged red blood cells on a test from 2005 (different Dr) so it has been with me quite a while.Therefore, I expect it might take quite some time to repair.

[Ajay999 in reply to BethattheBeach]

Hi - thanks for the feedback and good idea to take my wife with me.

As a matter of interest what was your B12 reading ?

Good luck with your treatment.

A

[BethattheBeach in reply to Ajay999]

Originally, it was 175 (in Australia I think the reference was 205) I'm on holidays and do not have access to original paperwork. The Active B12 (which is done automatically here if your serum levels are low) was 21. No idea what the reference is, sorry.

Don't forget to take a symptom list - those that have abated if you are having B12 injections and those that are still in evidence. Your Dr will latch onto the sheet- mine asked to file it on her system for future reference. She also asked me to set up an Excel sheet with food and symptoms - to see if there are any connections.

I'll be interested to hear how you go. All the best.