Hello all you lovely autoimmune buddies. I hope you are all as well as you can be. Sorry I’ve been absent for a while but I’ve been struggling dealing with things including my daughter being diagnosed with autoimmunity.
I have a dilemma I need help to try and understand and would appreciate any suggestions, thoughts etc. I’m baffled and doctors I’ve asked don’t have a clue. It concerns genetics, autoimmunity and throws differing diagnosis’ into question.
Let me start with a brief history so you know what I’m talking about. (Apologies in advance if I bore the pants off you)
Ok. My maternal grandmother had thrombocecemia along with arthritis, ulcerated legs and after an acute illness, died of peritonitis.
Her daughter, my aunty, had a few dryness issues and blocked tear ducts but was otherwise well until she had a stroke. (Was this a blood disorder also?) A few years later she died of stomach cancer.
My mother had a few minor health issues, restless legs, constipation but nothing she couldn’t handle and she worked until she was in her 80’s. At age 86 she suffered a really nasty fall where she broke her shoulder in several places and severed all the nerves. She had a plastic shoulder put in but never regained the use of her hand or arm. From then on, she went downhill fast. She developed AF, kidney disease, bladder incontinence, lymphodema, high blood pressure, arthritis and erythromelalgia with ulcerated legs. She later developed Venus insufficiency, bowel incontinence, lots of autonomic issues and died of a pseudo obstruction. Her doctor said he had never seen one before. She had a RF of just 78. (Don’t know about ANA)
My autoimmune journey began around menopause which apparently is typical for sjogrens. It started more with nerve related issues and there has always been some doubt as to whether all my symptoms are in fact due to the sjogrens but, disputes extensive investigations, nothing else has ever been found. My RF is 500, ana borderline and inflammatory markers always pretty normal. I have so many autonomic issues, vision, sweats, sexual dysfunction, slow transit and dysmotility, urine retention, breathing irregularities, palpitations, but the worst is my digestive system. Trouble swallowing now sometimes causes chocking and I’m losing all sensation at the other end. However, because I do not have orthostatic hypotension and a test for AAG was negative, I was dismissed from the autonomic unit with no diagnosis. Well, nothing apart from anxiety.
My daughter, I have suspected for a few years has had something going on but she has only just received her diagnosis. Early onset RA and close monitoring for suspected lupus due to hair loss, rashes and fainting spells. It is progressing at a rapid pace. Apart from the usual aches and pains, her symptoms started mainly with autonomic and bowel problems. Problems regulating her temperature, dizziness and balance problems, and it’s not unusual for her to empty her bowels 6 times a day and often passing out on doing so. She is awaiting a tilt table test but her AID already is at the stage mine is after 10 years.
Now, it’s clear that there is something autoimmune going on as we all have/had recognised AI linked diseases. It is also clear that something triggered all of our illnesses or the worsening of them. My grandmothers acute illness, aunties stroke, mothers fall, my menopause and my daughters use of an injectable contraceptive. What can’t be explained though is all of us having bowel/stomach/issues as our main problem and cause of death. Rheumatologist tells me it’s extremely unlikely that our AI diseases, all different, would just happen to affect us all the same. I’ve also seen a geneticist who said there is no specific genetic disease going on and she couldn’t explain this either. She did say that it’s highly unlikely that a genetic condition would affect us all at different ages and even less likely that bowel issues would affect us all the same way but 30 years apart in age. (Mother 80’s me 50’s daughter 20’s) I did suspect HSAN but geneticist ruled it out.
This all throws up lots of questions about genetics and autoimmunity.
I know autoimmunity is genetic but is it possible that an autoimmune disease can trigger something else genetic? Or something we are perhaps slightly predisposed to can be expedited by autoimmunity? Does this show that our genes and genetic tendencies determine the way our AID plays out and affects us? Or does autoimmunity have nothing to do with this and is completely unrelated to the genetics? Maybe everyone has the potential to develop an AID but it needs a certain trigger and another underlying genetic issue to start it up?
For me, this opens up so many questions so I’d be really interested to hear your thoughts on this and maybe some of you have similar familial issues?" Can’t wait to read your responses and apologies for rambling on. X
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Georgie-girl
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Not a ramble at all Gg, but something absolutely fascinating, and I dearly wish there could be more research into it. I'm so sorry you have the extra stress and worry over your daughter's health.
I've been pondering a little lately because while there seems to be no particular pattern of any kind of AI problems in the family, my brother, who is three years older than I am has developed the same digestive problems that seemed to have been the beginning of my particular flavour of AI. His are also turning unpleasant. There's no way we can get docs to think about it (even if they wanted to) because he lives in Denver, so his docs have taken note. Co-incidence? Genetics? Not a clue. I'm looking forward to other's replies.
How bizarre these things are that you both seem to be having similar symptoms. Has he been diagnosed with anything autoimmune or are you thinking that this is the start of something? I can see why you would’ve been thinking about genetics and things and really hope you can find a way to get some answers. Personally I don’t believe in coincidence but just not sure what the alternative really is. Please keep us posted if you find out anything further.
Similar so far Gg, although he's had an enlarged thyroid gland for some years, for no reason that can be detected. It has recently become so enlarged it was causing malformations and has been removed. I haven't had that. On the digestive side, he's having endoscopies to rule out Barrett's, which reminds me I should have one again to check because the reflux can still be bad in spite of two omeprazole twice a day. He was overweight but I can see the weight in reducing without trying. He's usually a fine trencherman, At the moment it's just so similar I can give him advice on what I've found has helped or hindered me.
Recently his wife has been diagnosed with breat cancer and has had one breast removed, so it has been a time of stress for him.
Sounds like a stressful time for all of you at the moment. I really hope he gets some comfort soon from if all. It does help though when you have someone close who's been through it already. Hes lucky to have you.
I took genetics in college, so I wholeheartedly believe it is genetic. They say stress triggers problems. Because our bodies overproduce cortisol when stressed. Fight or flight. Which is whats causing this anxiety. Blood type A have a constant level of cortisol. Type O spikes when stressed. (Dr. Peter . D'Adamo) I take a herbal supplement to control cortisol and sugar, but I still have digestive problems.
I am trying to heal my leaky gut with chicken bone broth and /or L-glutamine. Still not digesting, or producing bile. I am exhausted and broke from trying different herbal supplements to address my problems. On digestive enzymes, probiotics. Now trying swedish bitters from germany to aid in digestion. Cardamon spice to aid in digestion. Collagen powder for joint pain. Feel ok. Not bad. Oh, and a liver support because that organ is crapping out on me too. (I am only 54)
I always had problems since a child, but my older siblings and my dad who raised us after my mom died at 48 years young, dismissed every symptom. (Mom died from ulcerative colitis, liver went, sepsis..died in 3 weeks).
I started not feeling right in my mid 30s. Have had anxiety/depression my entire life. Everyone blamed it , including myself, that the brain was never right. Thought it was my pituitary in my brain messing things up. Recently read that autism spectrum people have leaky gut. Do not absorb minerals or nutrients right. Seems that is where the problem lies. Both my parents were probably on the spectrum (my father died from a clot to the lungs after peritonitis/appendectomy surgery at 76).
Crappy intestines. Then I further learned from Dr. axe that food allergies can cause leaky gut, which in turn throws off our hormones. I know my hormones are off. Believed so my entire life.
So, do we all just have sensitive systems? Why do austism people have leaky gut?
Drs are wrong in saying its not genetic. Because, i beleive autism is inherited. From my own experience.
Oh, and spike in cortisol reduces Hcl acid, which I think is why we dont digest food. When you are in flight or fight, your body shuts it down so you can run. Very fascinating stuff. I was also an anthropology major, and believe our bodies have not changed much since neanderthal.
Hi GG, I too am sorry to hear about your daughter and the family history.
I have had along day, but had to join in, may add more after some sleep.
I say why not to genetic connections.
I travelled all day with my husband having had an appt with a doctor specialising in sjorgrens early this morning. I did ask about connections genetically, as no one else in my family has this & lupus & Raynaud's, we have lots of issues as we all do, i.e. cancer, heart issues, etc. Also I am concerned for my daughter. She felt it was genetic with some triggers sjorgrens being hormone related which could happen early or in middle life span (child rearing age) or menopausal age. Also, genetic trigger could include smoking & bad dental care, both which fit me at an earlier part of my life. My daughter will fair better no smoking & better dental care... Who knows if something else will trigger it, do felt it was maternal gene...
So sorry you too are concerned about your daughter but you say there aren’t any other autoimmune diseases in your family so there’s no reason to suspect she will be affected.
Hope you get some rest and feel better after your exhausting day.
Hi I agree we think my dad had ctd same as me my sister has problems with her blood and liver and has been told it's autoimmune and my daughter has swelling of the vertebrae autoimmune again so yes I think it is genetic
Definately genetics. My mum has really bad arthritis with disfigured hands, I have sjogrens which rheumatologist dismisses as a minor irritation in my case and my daughter is likely to be diagnosed with lupus. Then my nephew who dies young had narcolepsy. All coincidences? No. Internet says AI is inherited and shows in different ways in family members.
My granddaughter, who is 3, has lots of medical problems and I think it will also turn out to be AI linked. We know it is a genetic problem and perhaps her being diagnosed and genes looked at properly will give the rest of the family some answers too.
Genetics is developing all the time but is expensive as are the blood test for AI so in the UK the NHS is reluctant to investigate.
BTW my son has had low abdominal pain for 3 months and still no diagnosis apart from cysts on kidneys which they say is nothing!! Are they looking for some AI? Nope even though he keeps mentioning that it is in his close family.
We all have to be medically aware these days as I feel we can't rely on doctors.
So sorry to hear of the problems you're having getting everyone diagnosed wmell. It can be really tough waiting for doctors to tie everything together when you know deep down what is wrong.
I really hope things get sorted out for you all soon.
It's certainly fascinating. I don't know much about the specifics of auto-immune disorders, but in general, it does seem tome that the scientific consensus has moved away from the nature/nurture dichotomy. In other words, it's more helpful to think about every trait that we have as being the result of a complex and lifelong interaction between our genes and the evironment.
For a few disorders, there are single gene products which can produce big, definitive, diseases. But for most - and I would suggest that such a complex set of disorders like AI problems, there is a prolonged series of feedback and regulatory loops in operation, which cause some genes to switch "on" and others o switch "off". (in other words, it isn't just what genes you inherit that decide what diseases you get, it's also how far they are expressed - and this can be mediated by the environment)
In my own case, my family history has little in the way of AI type disorders. I had no signs until a serious accident a few years ago. My suspicion is that, although my damaged bones and tissues healed, the sudden release of huge amounts of deep-tissue contents (I had extensive soft tissue tearing) probably switched on a whole lot of genes that had been "off" up till that point. The cascade of feedback mechanisms has probably been further complicated by the drugs I am taking, so I am now in a semi-permanent state of "on".
I see that I'm not going to be able to explain my thoughts in less than several textbook-length ramblings, so I will stop now. But reading some of the recent science on epigenetics is fascinating and informative. This link is quite a good introduction - and doesn't try to sell you useless supplements! learn.genetics.utah.edu/con...
Thank you whisper and that wasn't rambling at all. It was very well written and informative.
I must say I agree with the external trigger bit. I think we are predisposed by our genes to AID but something else determines when and how it plays out.
Funny you say yours started with an accident. I always blamed a car accident for mine starting until doctors said sjogrens usually starts at menopause so I then blamed that, but who really knows. Also I have a friend with MS who swears blind hers started after a car accident too. Doctors also say fibro is often caused by that too.
It all goes very very deep and totally absorbs me to the point I get nothing done so perhaps I should just stick to some mills and boon. X
Am vvvv much relating to this discussion. Many thanks: GRRRRREAT post, GG! My ears especially pricked up at your mention of your mother dying from Intestinal Pseudo Obstruction (IPO), which is the condition gastroenterology + rheumatology + immunology are helping me manage....after 64 years trying to minimise progressive debilitation due to slow transit dysmotility caused by my collection of underlying comorbidities...and immunology is now looking into the possibility of a form of Mast Cell Disorder also affecting my abdominal viscera
Other than my mother’s hypothyroidism (onset at menopause) i’m the only person in my immediate maternal & paternal family disgnosed with & in care for multiple early onset immune dysfunction & connective tissue disorders, including the Hypermobile Ehlers Danlos Syndrome (hEDS) from my father’s side (gastroenterology says a v high proportion of hEDS patients develop Intestinal Failure including IPO, and SLE is also associated with IPO). But my sisters have each been through passing phases of autoimmune-like flares, and my mother has always been highly reactive (i suspect she has always had Mast Cell Disorder rumbling along)
My medics tend to think i was tipped into the infant onset lupus due to daily exposure for months inutero to the notorious endocrine disrupting artificial oestrogen Diethylstilboestrol (DES). The 1st video in this link explains a bit more, as do my responses in this post + my HU profile copy:
Dear coco just like I told whisper, you are not rambling at all. It's always great to hear your responses as you're always so informative and helpful.
You say you're the only one with AID in your immediate family but perhaps with all the smaller flares of your sisters you aren't alone after all. Maybe it just hit you harder because of another trigger coming together with something else. Almost like the perfect storm. I do agree though that the oestrogen you were subjected to probably could've started something.
I'm so sorry to hear of all the abdominal issues you have to cope with and really hope your medical team keep on top of things and keep it as under control as possible.
I've never heard that IPO is common in SLE. My mother's doctor led me to believe it's quite a rarity. I have had the odd bout of gastroparesis and that's pretty unpleasant so I can't begin to imagine what you must go through managing all your abdominal problems.
I notice you're not on forum that often at present so really hope it's just that you're busy and not because of health issues. X
Thanks 😘. Yes, I think you’re on the right track. Daily DES inutero exposure of the magnitude i experienced caused dreadful birth defect injuries to my internal reproductive organs rendering me infertile and at high risk of ghastly rare gyn cancers. I am not alone in this: DES is know as the Hidden Thalidomide. There are many DES Daughters & Sons of my generation in the USA, Australia, Holland, France mainly. But so far research into our rate of AID has only shown we have a predisposition to RA. my feeling is that this is possibly because RA is more commonly diagnosed than lupus, and more research is needed
My medics’ feeling is that this assault on my fetus alone was extreme enough to to tip me over into my infant onset lupus...while the hEDS in my paternal family + the predisposition to hypothyroidism in my maternal family meant i was genetically suseptible to fullblown AID anyway. Whenever i discuss this with medics, they never scoff at me. It is what it is 🤷🏼♀️
Oh my word coco what a horrendous thing to happen. I never knew all of that. And here am I complaining about what seems trivial compared to your journey. You are a star to have endured all of this through your life yet still finding it within you to help everyone else.
😘 well, i always tend to feel everyone here endures tougher journeys than mine. 😆 I always minimise the significance of my stuff...have basically tended to be a pollyanna all my life, i’m afraid. But maybe that’s helped me survive until my hero rheumy finally turned up 6 years ago
The really spooky thing about the DES assaulting our fetuses, is that our mothers were prescribed DES in order to prevent miscarriages. Eg my mother was made to take DES daily and stay in bed for 5 months while bearing me in 1953. After the DES birth defects/cancers scandal hit international headlines in the 1970s, researchers eventually discovered DES is actually a “morning after” pill...and it’s now prescribed for this purpose. So, basically, the whole time DES was assaulting me inutero, it was both causing my internal birth defects + setting me up for infant inset lupus AND trying to make my mother miscarry. YIKES 🤷🏼♀️ DES was trying to kill me
It’s taken me a lifetime to face up to all this
Thank you for your kind thoughtfulness, GG. 💐💐💐💐 I hope you know i feel the same about you and your version of all this. Seems to me that comparisons are a waste of time: we all have it just as tough as each other 🤷🏼♀️Each in our own way
Hi Georgie I am not sure if this will help. I have found 3 different sources that will shed some light on autoimmunity and genetics. Hopefully it is in plain English.
Lovely seeing you back on forum but so sorry to read of your health problems and extra worry with your daughter's health!. It's cruel she's now been diagnosed with RA with her life ahead of her!.
Interesting area genetics and auto-,immunity , will be interesting to see your replies. I do know there can be a genetic link and intetesting you've been to a geneticist. The question I can answer is that is these AID's can be triggered by something like stress, infection which presumably means we may all carry the propensity to develop one but something has to trigger it happening?. I don't really know. All I can say is that we are at increased risk if a family member has got a AID and in my case it was my grandmother who had thyroid disease. It's skipped a generation as my mum is clear and I've now got several AID's . Mine was triggered by a very stressful time when young!.
I do hope you get better help for your problems and your daughter improves with treatment . Keep us posted. X
Thank you Misty for your kind words. How interesting that your family AI skipped a generation. I've heard of that happening with various other things which makes the whole area of genetics so fascinating to me. I was thinking too that maybe we all had the capability of developing an AID but needed a certain trigger but now I'm not too sure. I think it's just a special few of us who are predisposed to it for whatever reason.
I agree gg, it's a very interesting subject that needs further research. It would be fantastic one day to have the answers. In a way Iit's nice to think we're a special group to be affected as we do all suffer in such different ways despite the same illnesses. I was also interested in you saying nerves have affected you greatly!. Mine have too in different ways!. X
Mine all started with more nerve related stuff than anything else to be honest misty. Visual disturbances, odd sensations, ear problems and weird skin crawling, water running and vibrating sensations. That progressed to random numb patches, dizziness, tingles, pins and needles, reynaulds, balance problems and lack of sensation. And now I'm at the autonomic stage of swallowing, bladder and bowel, breathing, sweats, poor temp regulation and a whole host of other things. So yes, I'd definitely say mine has been more nerve related than anything else.
Your nerve problems sound so awful to live with. Much worse than mine!. Are you being treated?. I've got leg and feet numbness, worsened tingling, pins and needles. I've had / got nerve damage in different places causing a lot of pain. Have got bladder problems and would be interested to know how is your bladder affected?.x
Yes misty it's awful isn't it the things we have to live with. I don't think my nerves are damaged ( apart from my feet ) as much as aggrevated or inflamed. Lots of my nerve things come and go almost like the nerve forgets how to work for a while then it gets a new lease of life and over works to compensate for its slacking.
My bladder problems started with difficulty passing urine. I often had to strain. This also would come and go. On a couple of occasions I had to be catheterised. Then I had a brief episode of not going at all through the day but awake all night going. That quickly passed and it went to trouble emptying. I'm always asked about urine infections but touch wood I haven't had any. The problem now is a bit of a weird one. I have difficulty voiding and a very slow stream but when bladder wants to empty I can't hold it. My urologist can't treat this as treating one would lead to worsening of the other so I have a system like a military operation for my toilet needs.
I hope that's helped with your bladder issues. Are they similar?
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