Monday, October 01, 2012

Autoimmune defective family of women

Been thinking about how to word this post. Don't want to be melodramatic, only state some facts which occurred. But in order to do so, I need to bring up a little genealogy. Things come in threes, they say, and the third occurred last week.

My dad had an older brother. Both brothers were married twice - and both their first wives were called Martie or Marthie. That just by the way for interest's sake. Both brothers had one girl as first-born child. Cousin Annatjie and I were great friends as young children. I remember clearly how the two of us shared a bubble bath, standing and laughing uproariously while working the water with our feet to create more bubbles. I was not used to such luxury ... they brought it along when they came to visit us once. At that point, tannie Marthie was married to her second husband who raised Annatjie as his own.

Then we lost touch - never saw each other again until briefly in our early twenties, because our families drifted apart or something. I never forgot her and tried for years to find her again. Succeeded somewhere in 2008, I think. Interestingly enough -- she is married to a Theo and her only son is called Jaco. (My two sons are named Jaco and Theo.)

The only family picture I have of my grandparents, my dad and his older brother. Must have been taken around 1944 or 1945, by a street photographer.
When I was 12 or 13, my parents were divorced. My dad met another woman afterwards and they were married. They have four children - one girl and three boys. The girl is once again the first born. She has never met Annatjie as far as I know.

 All three of us suffer from auto-immune diseases. We are the only girls in this branch of the family.

I think Annatjie's half brother (same dad, different mother) is fine, and so are my three half-brothers, Anneke's full brothers. My only full brother died of Hodgkin's lymphoma 5 days before he turned 11, way back in 1976 before the disease could be treated. [I just did a search and found the following: "Immunological abnormalities have been described in patients with Hodgkin's disease ... can also present as immune dysregulation and autoimmune disease." ]

Cousin Annatjie (left) and sister Anneke (right)
Annatjie was just diagnosed with Bullous Pemphigoid.

The Medical Dictionary says: "bullous pemphigoid - an autoimmune disease of skin and oral mucosa with vesicles, bullae and ulcerations; occurs rarely in dogs and humans."

Bullous pemphigoid is an autoimmune disorder that results in the formation of bullae, most often in the groin, axillae, and intertriginous areas. (Intertriginous is a medical term used to define an area where two skin areas may touch or rub together.)
Bullae: More than one bulla, a bulla being a blister more than 5 mm (about 3/16 inch) in diameter with thin walls that is full of fluid.

She is in pain, she is upset, worried and concerned.  I looked it up and found some pictures like this one. My heart goes out to you, Annatjie, while you deal with this diagnosis!

Blisters on the arm and skin sloughed off

Anneke woke up one morning some years ago and couldn't get out of bed, due to absolutely severe and numbing pain in her legs. Tests and doctors again. Finally she was diagnosed with Rheumatoid Arthritis. It became so bad that she would sit in tears, her parents were frantic and concerned, she had to get special permission for heavy-duty and expensive medication which could cause all sorts of other issues. She is a medical rep, so she knows what the medication can do and cause. Stress causes the condition to kick up a notch, so she has to watch it.

Wikipedia says:
Rheumatoid arthritis (RA) is a chronic, systemic inflammatory disorder that may affect many tissues and organs, but principally attacks flexible (synovial) joints. The process involves an inflammatory response of the capsule around the joints (synovium) secondary to swelling (hyperplasia) of synovial cells, excess synovial fluid, and the development of fibrous tissue (pannus) in the synovium. The pathology of the disease process often leads to the destruction of articular cartilage and ankylosis (fusion) of the joints. Rheumatoid arthritis can also produce diffuse inflammation in the lungs, membrane around the heart (pericardium), the membranes of the lung (pleura), and white of the eye (sclera), and also nodular lesions, most common in subcutaneous tissue. Although the cause of rheumatoid arthritis is unknown, autoimmunity plays a pivotal role in both its chronicity and progression, and RA is considered a systemic autoimmune disease.

About 1% of the world's population is afflicted by rheumatoid arthritis, women three times more often than men.

My story - obviously longer since I lived it. Please know this is not a complaining or a "poor me" post, only a stating of some facts. Wondering about all three of us, the only three girl children of these two brothers,  having these conditions.

When I was 18, I suddenly developed allergic reactions. I kept telling everyone it is an allergy to metal but got laughed at. Who is allergic to metal? This continued for years. I was diagnosed with all sorts of things, including an allergy to Tartrazine - the stuff used to make cheese and food yellow. We started watching labels and everything else, but at that point in South Africa, Tartrazine was in everything from breakfast foods to candy/sweets, canned goods, snack foods, medication and more. I saw medical doctors, dermatologists, homeopaths and chiropractors. No luck.

My body was more and more broken down, so much so that I couldn't peel a potato or slice a tomato without having the skin on my hands and fingers just slip off or split open. I had no cuticles left around my nails. Trying to control the allergic reactions, my doctor would give me cortisone injections as well as Vitamin B injections from time to time.

Hives would form all over my body, even inside the eyelids, inside the ears, and all soft parts of the body. I would wake my husband at night from scratching so much and would have the skin almost slough off in parts. A few times my breathing was affected.

Here's a picture of what it looked like, more often than not, but mostly I could hide it under my clothes and consciously refrain from scratching while awake.

After more than 20 years of this, I finally had a dermatologist willing to test me for allergies. He said he had never seen such a reaction on the patch test, specifically to nickel and cobalt. But by then my body was very depleted from all these things ravaging it, including Menorrhagia every month which I thought was normal. We didn't discuss our periods.

Before we came to Canada, I had the fillings in my teeth removed and replaced with white, as well as had endometrial ablation. The gynecologist said he had never seen such a thick uterine lining and wanted to do the procedure again the next year. That helped since my period became light and "normal" afterwards so my body had more time to recuperate.

In 1997 or 1998, after coming to Canada, I was diagnosed with arthritis. In 2005 I was diagnosed with Rheumatoid Arthritis. It was controllable and not too bad. A friend thought that the years of allergic issues caused the RA to kick in.

I considered myself healthy, happy and with no major problems, especially thanks to a high pain threshold. 

And then, in 2007 - the sick tick bit me here in Ontario. Everything broke down - had to scoot upstairs using hands and sitting on my bum since the leg and hip pain became intolerable. Ankle started dragging and I fell off stairs when trying to walk down. Woke up blind on the left side several times. Lost hearing from time to time. Developed severe sensitivity to light and sound. All sorts of infections, debilitating pain - you know, the old Lyme Disease list of stuff. But it took three years to diagnose. Cue the Lyme Disease music!

Lyme made the RA worse, of course. One of the diagnoses was in fact that it was RA causing my swallowing muscles to degenerate and I was told I would have to probably be on breathing and feeding tubes by my mid-fifties. That was fun to hear. Not.

Oh, a few months ago, as part of my Lyme Disease treatment, I was tested for metal and was told my lead levels are high and should be addressed. Haven't done that yet.

As part of my Lyme Disease treatment, some of the cocktails of medication created such a strong and severe reaction that a doctor told me that "You WILL die." He was afraid of Stevens–Johnson syndrome (SJS) kicking in. I had to drop all medications. So -- I went out for my favourite treat of Dim Sum with friends to have a great day. Might as well go out with a bang and with friends, right?

"SJS and toxic epidermal necrolysis (TEN) are two forms of a life-threatening skin condition, in which cell death causes the epidermis to separate from the dermis. The syndrome is thought to be a hypersensitivity complex that affects the skin and the mucous membranes. The majority of cases are idiopathic (without a known cause). The main known cause is certain medications, followed by infections and, rarely, cancers."

Some research:
"Bullous pemphigoid is the most common autoimmune blistering skin diseases. The significance of the association of bullous pemphigoid with other autoimmune diseases is still unknown. There have been reports of an association with many autoimmune skin diseases."

"In 1997, RA accounted for 22% of all deaths due to arthritis and other rheumatic conditions."

Lyme Disease is supposed to be "rare" since Canada only reported 100 cases per year. That while across the border, tens of thousands of people are diagnosed every year.

My and Anneke's dad seems to be fine. He beat prostate cancer and his levels are now below normal.
His older brother, Annatjie's father, died of aortic aneurysm. He also had adult diabetes in his later years.
Our grandmother, their mother, lived to be 80. Anneke and I suspect that she might have suffered from RA or related conditions, but we're not sure. Where else could it have come from?

 Now I wonder, what do these conditions mean for our children? I have two boys, Annatjie has two girls, a son and a granddaughter, and Anneke was just married a few months ago.

I'm talking to family members found through doing our genealogy over the last 10 years or so, trying to find out if there might be  any more of these cases. It might help someone else, knowing that they should be on the lookout for their own bodies waiting to eat them!


Anonymous said...

Fascinating, Meer, though heartbreaking too for the pain and suffering you deal with. Autoimmune disorders seem to run in my family too. I have endo, as does my sister and we suspect my mom had it. My daughter has fibromyalgia, and I suspect my sister does too (she struggled for years with CFS but to me her symptoms seem more like fibro). My maternal grandfather had rheumatoid arthritis, and my uncle, my mom-s half brother has arthristis, though I don't know if its rheumatoid or osteo.

MeerkatMarlene said...

Sorry about all the struggles you go through, Num! I didn't know about N. And CFS was one of the diagnoses I had among the others.
As for me, really not that bad. I'm more concerned about my sister and cousin.
I have no idea if it is "defective" gene or not. But people seem to think that the Lyme was made worse because of all the other things already going on. But I'm healthy, honest I am! Just got a sick tick's spit in me. Others are much worse off than I am.

Anonymous said...

Dear Meer - I too extend heartfelt sympathy for ALL you've gone thru & continue to defeat. I'm grateful to Melisa H for posting this on our Group page lyme : OhOhCanada (or I'd be pleased, & appreciative if you wud join us, 317 of us in ohoh so similar effects of compromised immune system taking on tbids & symptoms / consequences of these illnesses. I for one have R.A - my hands are with bulging knuckles like peaks & valleys, overlaid bone. As with all joints, I see a Complex Chronic Pain specialist (Vancouver) - I too have a high threshold for pain, but it wears one thin day after day, yr after yr. As with tinnitus, the brain (5 brain tests c.scans, MRIs & brain spec. Reduced uptake on both sides /front. Neurologist actually believes its lyme - hearing that from someone outside the llmd & llnd is astonishing. So said the tinnitus sp. Like auditory hallucinations, no choice in the selection of 3-4 sounds (sirens, bells, striking a steel pole, blurred voice over a loud speaker - vacuuming) @ the same time. It is amazing to me how varied the signs, the ordeals that come from the same source.
Absolutely, those w weakened immune systems are proned to take on a harder version of a disease, I wonder if others who experienced a tbids who have healthy immune systems do in fact ward off the early stage infection. When a IDS (before I knew better) looked at my 2 positive Elisa tests, he said "shows you once had an exposure " you know, antibodies just hang on like a nonthreatening past visitor who left a foot print. A WB @ Igenex said otherwise & that two very real residents - those twin brothers Bart & Babs had staked their rights on my turf.
I've been sick for 10 yrs (4 yrs spent in PA -USA.) My sister who had been living in Mexico for 2 decades (me before for 8 yrs) - we came back to BC together. She suffers w chronic migraines (I don't) - has had seizures! Then her legs began hurting. It seemed impossible - but our GP did the blood draw - sent to Lifelab. Came back pos for Bart & Rocky Mtn Spotted Fever. This to me falls in line w what you're saying. She's awaiting results from Igenex for Lyme & retesting cos. Our Mom had Alzheimers, may not tie in, but she was always cold, poor circulation, wild mood swings.
I do wish you the best in attaining treatment that will address these skin eruptions, eye issues & get to the source. Id like to think you'll be in the bubble bath, w a smile on your face remembering fun times w your beloved cousin. Are you reconnected? (I have serious lyme fog hanging Spanish moss within remnants of this brain) I hope so!
Cheers, Sheryl

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