Following on from my genetics post, an interesting point from my geneticist.

[Georgie-girl]

What do you think ? Make sense?

[Lupiknits]

It makes sense I think, in that it seems to be saying they don't know enough yet about genes and testing for specific genetic markers to be able to "spot" auto-immunity connected ones for certain. I think they are trying to say there may be whatever the word is for lower level genetic markers which can be triggered by external factors to cause problems.

Since your last post I've been thinking about family members who may have anything connected to CTD or auto immune conditions. Nothing at all in parents, grand parents and great great grandparents for me, who all lived in unusually good health into their 80s and 90s. One made it to 103, with his first ever visit to hospital at 99, absolutely amazed that the NHS took x rays in the middle of the night.

One brother seems to be starting the digestive problems I have, and has also had an enlarged thyroid gland for no known reason is the only family member I can think of. Interestingly, he had a lot of stress before it started, and so did I. I actually ignored my symptoms as stress to begin with. I now know very well how stress makes me flare.

Your family seems to have too many connected health problems for there not to be a genetic similarity. I suppose we can only hope enough research makes it easier to spot and take precautions around external factors.

[Georgie-girl in reply to Lupiknits]

Wow lupi. How great to have such long lives in your family. I'm so loving the dear who went to a&e at 99 bless them.

It sure is strange how genetics and AI work together and how some people have a long line of affected family members and others, like yourself can't find any. Wouldn't it be wonderful if we knew all of the external, hormonal, environmental etc triggers. Stress as you say is a very important factor and I wonder if this is perhaps what triggered your brothers digestive problems.

How awful for us all too that these conditions make us stressed, the very thing that we should avoid.

[Freckle1000]

Hi,

When I was trying to get my brain to actually work through some major brain fog - I 'vaguely' watched a lecture series on youtube 'Human biology and behavior' from (Standford university). It talked about epi - genetics and described how certain bodily proteins receive signals from the outside world and can send chemical messages to other proteins leading right down to the DNA which shuffles and alters the code of the DNA itself.

They're finding that DNA is very 'pliable' due to environmental factors because of these proteins. Hence - you may have half your mothers DNA - but due to environment - your DNA may actually have been somewhat altered right back to the point after inception.

I believe there' s an article at 'The LuPUS Message Board' - that describes the discovery of one of these proteins that might mess with our DNA and cause Lupus. This discovery might eventually lead to a preventative intervention for the illness ? New medicines ?

The article doesn't know/describe what the environmental trigger/s is.

Swotting up on biology - right from secondary school - has helped me understand this flippin' illness. (Glad I was interested in it back then)

x

[Georgie-girl in reply to Freckle1000]

That sounds like an interesting YouTube article you watched freckle. I'm going to search for it. Sounds fascinating. Thank you.

[whisperit]

Yes, that makes sense to me. I imagine that many of these AI conditions will be under the influence of some many genes and so many environmental/epigenetic feedback and modification processes that it will be very difficult to develop straightforward treatments based on genetics. It will be more a case of tilting the probabilities away from developing AI rather than blocking it altogether. But that's just my view, and a sweeping generalisation at that.

Thanks, G-g x

[Georgie-girl in reply to whisperit]

Couldn't agree more whisper x

[Hidden]

Hi Georgie-girl. I never responded to your last post on this but was an interested observer.

At the beginning of my health related folder I have a copy of a letter from a Great Ormond Steet Geneticist to my late mum, regarding her inclusion as part of a trial into hereditary deafness - due to both my sisters having been born profoundly deaf. It says something about them being unable to find a genetic link to confirm via DNA testing.

I learned recently, from a guided tour around the Wellcome Trust Museum in London, that the outcome of The Human Genome Project genome.gov/10001772/all-abo... was broadly that it is the data sitting between our genes that is of such vital importance apparently in terms of evolution. The guide explained that it came as a huge shock when, at some stage in this extraordinary project, it emerged that human beings only have half the genetic make up of a potato!!

So what I, as a non scientist and who has learnt the hard way to trust my instincts on most things, has taken from this is that, as with so many things in life - it’s the “matter” or dust or data in between our genes that counts for most ie environmental, chance, congenital, circumstantial as much if not more than our genetic make up - because this “dust” will help to determine our outcome.

So my view is that my sisters may or may not have been born deaf because of some rogue genes which have skipped many generations and gone fairly sideways too (my brother in law discovered some distant aunties, sisters born profoundly “deaf/ dumb and mute” as they used to say - or it could have been my father’s contracting mumps when I was a newborn - affecting his semen production - or a collaboration of both. As an artist I love to focus on the philosophical / quantum theory of dust floating all around and between us that defines as unique individuals.

So my instinct says that not as much is about genes as we sometimes assume - and my own autoimmunity certainly seems to bear this somewhat dreamy and instinctive theory out.

I would also point out that the Sjögren’s specialist I saw recently seemed to think that where we sit on the spectrum of rheumatic diseases is largely predisposed. She felt (and she admitted that this is a generalisation of course) that Fibromyalgia is largely circumstantial, people who develop RA were born passive and stoical and “a usually a joy to work with” for her because of their medication compliance. People with Sjögren’s are usually of anxious disposition and therefore very often worried about taking any medication whatsoever. People who get PsA are often of naturally challenging and angry dispositions so very difficult to work with. She is not the first rheumatologist/ immunologist to tell me this theory. I didn’t get as far as Lupus I’m afraid. But I laughed and said I must sit somewhere else then because I’ve been very stoical and compliant about trying a number of heavy duty drugs without questioning the doctors who have recommended them - or blaming them when my body has gone berserk in response?!!

I think my own autoimmunity arrived out of the dust surrounding me from conception onwards - ie a mix of hereditary predisposition, circumstance, nurture, being highly allergic/ environmental and sheer bad luck. So this seems to tarry with what your geneticist’s letter is saying about CTDs doesn’t it?

Twitchy xx

[Georgie-girl in reply to Hidden]

It certainly does Twitchy and I must say, that tour of the welcome trust museum sounds awesome. I must do it. Potato. Really? 😅 This is such a fascinating subject for me so thank you for your wonderful input.

I think this all goes to show from all the comments that there are so many contributing factors as well as genes and so little is really known as to how things all work together. All we can do is take as good care as we can of ourselves.

Hope you are keeping well and looking after yourself. X

[Hidden in reply to Georgie-girl]

Well shortly after commenting here I was visited by a friend and neighbour who has just been diagnosed with breast cancer. One of her sisters has the same type and another sister has a rare form of leukaemia and my friend herself had Hodgkin’s as a young woman. So there certainly are diseases that can run in families we know. In my family it’s atherosclerosis and our hearts.

And I do think one of my sisters possibly has a mild form of seronegative Sjögren’s (burning mouth syndrome and fatigue) , I have a first cousin with PsA without the Psoriasis and another second cousin on the other side with probable seronegative Sjögren’s. So I’m certainly not dismissing the role that our genes play.

But I think genes are certainly only part of the picture and what no one really yet knows about autoimmune diseases, is how much of a part. X

[Lupiknits in reply to Hidden]

Your specialists's generalisations about what I take to be personality types and the disorders she covers reminds me of the very old theories of humours in the body, hence phlegmatic, splenetic and choleric dispositions. Well, we endure plenty of blood letting, anyway. I think that was the cure then.

[Hidden in reply to Lupiknits]

Me too - we sceptics eh?! When I told man GP about this I added “and equally I often find myself wondering what predisposes certain medical doctors to rely on amateur psychology??! Xx

[Lupiknits in reply to Hidden]

He's a keeper! 😂

[Hidden in reply to Lupiknits]

Tee hee I said it - he just looked askance!! 😜X

[Lupiknits in reply to Hidden]

You are more eloquent than I am. Fisticuffs are more my line😉

[Hidden in reply to Lupiknits]

We LUK warriors make a good team then - the carrot and the stick! X

[misty14]

Hi gg

Your updated genetics post does make sense and is backed up by comments made in a book recommended by GE on here called 'what the hell is wrong with me' by Richard Connery. It charts his diagnosis of Sjogren's but is all about invisible iauto- immune illnesses!. You might have read it yourself. It's a good read.

On genetics he says doctors today think auto- immunity involves a genetic predisposition that is triggered by stress,a virus etc. He also says' genetics do play a significant role in development of auto- immune disease. More than 200 variations in genes have been found that are likely to contribute to auto- immune disease!. it's accepted that these conditions cluster in families suggesting a genetic link or influence'

Researchers agree that genetics alone can't fully explain the wide array of differences in auto- immune illness and so environmental factors provide the missing link'

So it's a combination of both that leads to these illnesses. Certainly applies to your family history gg and I do feel more research needs to be done!. I bet you do too. Hope this is helpful. Take care. X

[Georgie-girl in reply to misty14]

Thank you so much Misty. I have read that book and I agree with you, it is a good read.

I agree with you also that more should be done. I know it would probably be very costly initially, but surely it would be cost effective in the long run. I mean it's got to be cheaper and easier to find the culprit and treat it directly than to have someone visit doctor after doctor looking for answers and then after possibly many years, be pumped full of harmful drugs for ever more that half the time don't do much anyway. It costs the NHS a fortune so I feel it would be well worth spending now to save later.

Genetics is apparantly coming on in leaps and bounds but still not quick enough in my opinion and according to my geneticist it is all because of funding.

Anyway, I must get off my high horse and stop trying to put the world to rights.

Thanks again for this fascinating response. X

[misty14 in reply to Georgie-girl]

Hi gg

I couldn't agree with you more. It's got to make sense to find out as much as possible about these illnesses which could save money in the longer term. Spend now to save later but don't you think so many people can't think long term!. Hope you and your daughter improve . X

[Lupiknits]

This is all fascinating. Thanks fir the thread gg

[AnnNY]

Last winter I did my DNA with Ancestry.com. I was then trying to download the information to save on my computer. I found there was a medical program you can run your data through. I was surprised that there were so many genes that gave you an increased predisposition to lupus. (It usually said lupus and RA.) That said it was usually a small percentage over whatever is the normal percentage. So having a .5 increase or .7 increase didn't seem very determinative. I even had a gene that gave me a slight decrease in my chance of lupus. I looked up various genes to see what research there was, and there was not much for many of the "lupus" or genes for something else.

One gene I had which may or may not be autoimmune was one of the MTHFR homozygous (both genes) mutations. I had heard of this before, and some medical discussions call it a "popular" mutation, since it has been picked up by natural medicine and "treating" involves expensive supplements. The mutation involves folic acid and many people have at least one of the bad genes. So I didn't pay much attention to it. My GP, though, did find I had an alarming level of homocystine which can be related to folic acid and this MTHFR mutation. He then did a more reliable genetic test and Ancestry.com was accurate. He put me on a high does of folic acid and my homocystine went down.

I think just looking at who has what in your family is going to give you a better idea of what is genetic. I have 4 siblings and no one seems to have autoimmune disease. My sister is low thyroid. Two of my brothers have pain issues but seen as TMJ. I did have something call HLA-B27--not uncommon in people from Europe, which is connected to an autoimmune disease call Ankylosing spondylitis. I'm most worried that one or my brothers might have that. I haven't informed them that they might have HLA-B27, but I'm not sure it is worth worrying them about something that may never happen.

[Georgie-girl]

Wow thank you so much for that AnnNY. Truly fascinating stuff. I think i heard once before about an HLA gene which is a pain gene and associated with inherited pain disorders.

I agree with you about your brother. Probably better to watch and wait a while especially if he's the panicky type. Even more so as nothing can be done anyway.

Thank you again for such a fascinating and informative reply.

[Buffy14]

Very interesting post as my daughter has been having flares very like mine and she is getting nowhere with diagnosis . Aswell as me her mother having lupus her grandmother on her father's side has lupus so she has it on both sides of the family . They just say it's not hereditary and my daughter feels they are just dismissing her as someone who is being paranoid because of the lupus in both sides of her family even though they have seen her with swollen joints , her hands during her last flare looked exactly like mine during a flare , like a rubber glove looks when you fill it with water . 5 years she's been like this since the birth of her first child , she is now pregnant again and coming up to winter when she is usually worse and I am very worried as she has already come out in a weird rash down her arms like red circles she said . I once heard someone say lupus isn't hereditary but it's genetic , what's the difference .

[Georgie-girl]

Hi buffy. My understanding is that the diffetence is something you will definitely have or something you are predisposed to and may get if something triggers it. It's all very complicated. Lupus they say can run in families but it's not guaranteed that any offspring will get it.

I'm so sorry you're having trouble getting your daughter diagnosed. It's heartbreaking watching them suffer isn't it. My daughter has been having odd things happen for a few years and I suspected AID from the start but doctors always ruled it out due to lack of antibodies. Now though she has the antibodies so is finally being taken seriously. It's terrible that we have to go through so much to get a diagnosis. I really hope you get some answers for your daughter soon.

Please keep us posted.