Would 23andme be useful for our family? - why father not got ME, rest of us have.

[langdale]

I have had severe M.E. for 30 years since aged 20 and am bedbound except can get out to go to toilet. My mother (mostly housebound) and two sisters (mostly bedbound) also have severe M.E. Thankfully our father doesn’t have ME even though we all live together.

If we had genetic testing would it show anything treatable about my mother, sisters and me (I am male) which isn’t in my father’s genes?

People seem to use results for methylation but I’ve tried methylcobalamin and metafolin without success a few years ago, though started trying them again now, and my sisters have tried lots of B vitamins. Is there anything else that anyone has found treatable from genetic testing?

My mother, one sister and I are all deteriorating over the years especially our brains, one of my sisters is stable. We don't understand this because most people don't deteriorate?

Are there any privacy options with 23andme e.g. what do the companies do with the results?

Many thanks in advance.

 

[Valentijn]

If we had genetic testing would it show anything treatable about my mother, sisters and me (I am male) which isn’t in my father’s genes?

There aren't any known mutations substantially or reliably associated with ME thus far. But it's possible that 23andMe results would indicate a different disease. However 23andMe tests pretty randomly, so it's not a great way to look for diseases.

My mother, one sister and I are all deteriorating over the years especially our brains, one of my sisters is stable. We don't understand this because most people don't deteriorate?

Have you been checked out for a genetic mitochondrial disease? Children get all of their mitochondrial DNA from their mother. If it is a mitochondrial disease, there might also be other maternal relatives (her mother, her mother's siblings, etc) with medical problems in different body systems.

Are there any privacy options with 23andme e.g. what do the companies do with the results?

Yes, you can keep your info private. From what I recall, you select to share your data with researchers, or not, when first signing up.

I don't think 23andMe is particularly useful in testing for disease. It's simply too random. But full exome sequencing is getting quite cheap now, at around US$400. We've discussed it a bit in this thread: http://forums.phoenixrising.me/index.php?threads/new-exome-testing-400.48137/

It would probably be a better return for your money to get one of you tested there, instead of all of you going for 23andMe.

 

[Jenny TipsforME]

I've been frustrated with 23andme because almost everything I've wanted to look up wasn't included. It might be worth at least one of you getting a full exome test first. Prices are rapidly falling, so if you can't afford it just wait until it is affordable to you.

I think I need to get this done but doing that feels like I wasted money on 23andme.

@Valentijn is right, current research won't tell you anything useful about ME and DNA but it might give you information about related things, or alternative diagnosis.

It is also hard work to interpret. One of you needs to take it on as a serious hobby or you need to pay extra to have a professional interpret what it means.

 

[langdale]

Many thanks for replies - much appreciated, given me better perspective. Sounds complicated, beyond my ME brain to process results myself. Thanks for tip about full genome testing, will remember that. @Valentijn we haven't had mitochondrial testing, not sure what is.

Just got iron results back from finger-prick blood test from private lab - ferritin 442 (has always been over 400 for years) but this time serum iron slightly over normal range and transferrin saturation 65% (normal less than 50) so am wondering re. genetic heamochromatosis.

 

[Snowdrop]

I know you didn't ask this question but I just today saw a tweet on twitter that (of course I can't remember who) there was research being done where they were looking for multiple family members with ME and a healthy control. I hope someone else will chime in if you are interested in that. I suppose it may depend on where you live and where the research is being conducted too.

The person to talk to here about H'tosis would be @alex3619 . He may be able to help.

 

[Crux]

Just got iron results back from finger-prick blood test from private lab - ferritin 442 (has always been over 400 for years) but this time serum iron slightly over normal range and transferrin saturation 65% (normal less than 50) so am wondering re. genetic heamochromatosis.

These indicate iron overload. The symptoms can be vast and miserable.

23andme does have some of the snps for hemochromatosis of the classic kind, but it does get spotty for others causing iron overload.

There are many. I would love to get genetic analysis for these lesser known iron overload snps. Maybe the folks here can discuss them.

There are some snps that tend to cause excess iron deposition in the brain, which can cause the same symptoms as MS, ME, etc.

With the CP gene, for instance, a pathogenic snp can cause low ceruloplasmin, which can cause excess brain iron deposition, which is neurotoxic.

 

[alex3619]

There are genetic panels specifically designed for haemochromatosis, though there is no guarantee that we know all the genes defects yet. However this would be a first place to start.

One word of warning is that rapid removal of blood has, in at least one case, resulted in a major and prolonged crash for one patient with both ME and haemochromatosis. For one thing you would want to find out if you are hypovolemic ... which raises another issue. Slightly high iron might be due to low blood volume, and hence higher concentration. Most patients however report low iron if they have ME.

 

[langdale]

Many thanks for the replies, really kind. Thanks for the warning, alex3619, re rapid blood removal, can't afford another crash of any sort, glad you told me that, and thanks for the tip re. hypovolemic.