My medical info

[kate1980]

38 yo
*struggled with scaly rashes on my face and scalp since infancy
*tested as borderline autistic at 4-5 years old (was non verbal until after age 2)
*1988 - started having fainting spells/seizures - one was so severe I didn't breathe for 15 minutes; Dr never determined the cause and I "grew out of them" by age 13.
*1997 - tested for blood clotting genetic mutation Factor V Leiden - Positive heterozygous
*2006 - 1st pregnancy - struggled with diarrhea off and on, thought it was par for the course; superficial clot from IV at birth
*2007 - mother died at 57 from stroke due to hypercoaguability issues I share genetically - she had ongoing bowel issues, with her gall bladder removed, GERD and intermittent diarrhea also, tried an elimination diet but I don't think she ever figured it out. She had colon polyps also. Sometimes wish I could ask her questions about her GI issues now :(
*2008 - diagnosed with seborrheic dermatitis, given steroid ointment which partially helped; continued intermittent bowel issues I was more embarrassed than uncomfortable so never addressed it with Dr.
*2011 - 2nd pregnancy - emergency c section, diagnosed 6 weeks PPM with DVT upper left arm; Tested and confirmed genetic mutation for protein S deficiency; continued bowel issues
2011 - 2014 - went on strict vegan diet - in hindsight I think this delayed my celiac and MC diagnosis due to eliminating most baked goods from my diet as most have animal products as well as gluten. At 34 I had a pre-melanoma surgically removed from my left leg.
2015 - My father's rare cancer relapsed and I was laid off so I took care of him through treatments at Mayo, leaving my family for weeks at a time. His treatment and surgery worked - temporarily. I became very sick under the stress. Severe bouts of diarrhea, ear infection, sinus infection. I had to leave Dad at hope lodge as I spiked a fever, drove 6 hours home.
2016 - Started new job, separated from my husband for 6 months, had a genetic cancer panel done because of rare cancers on Dad's side including 2 aunts who have died from ovarian cancer. Positive for TSC-II mutation - which can cause epilepsy, might explain my seizures in my youth. I had a great uncle die from epilepsy on Dad's side. He also told me my great grandfather died of "Inflammation of the bowel." Which could be a lot of things, but peaked my interest. I moved back in with my husband and children. Bowel issues continued. I changed jobs again. Dad's cancer progressed and he was enrolled in several clinical trials but none helped his rare cancer. Para testicular liposarcoma. When he was initially diagnosed in 2008, he was one of only 50 diagnosis worldwide so the treatment was really unknown.
2017 - My bowel issues continued -and I stupidly did not see the Dr about it.
2018 - My father died at Mayo with me having taken off work for about 1 week to be with him. His cancer mets were in his liver and spine. He had several bleeding episodes - very traumatic for me. Had 10 units of blood over the course of a few days. Ultimately I watched him bleed to death. My intermittent diarrhea became the norm. Dad was a hoarder and I was named trustee of his estate. Dealing with his multiple rundown properties full of stuff and working full time made my GI issues progressively worse. In July I quit my job I was great at due to barely making it to the bathroom at work several times a day. I finally went to the Dr. They told me to take metamucil and "see if it helps." I tried it for a few weeks. Although they weren't necessarily watery anymore, the urgency and frequency were unchanged. I do family history stuff for a hobby and really got into it being off from work and just dealing with dad's stuff. I decided to do a 23 and me test and threw in the health portion out of curiosity. Mind blown. I have 14! pages worth of mutations including some 25 bowel related and similarly ~15-20 related to the reproductive cancers. They include risks for RA, sclerosis, colorectal cancer, Crohn's, Ulcerative colitis, Lupus, Hashimoto's, inflammatory bowel diseases. With results in hand I went back to the Dr. for answers. I was positive for both HLA-DQ8 and HLA-DQ2.5 and wanted more tests. They ran a serum iga test and I was below normal but not very far from normal. My TTG - IGA was off the chart at >100. I was referred to a GI specialist. Because of my high antibody level she and I discussed going gluten free after biopsy regardless of what it showed. On New Year's Eve I had an endoscopy and colonoscopy. Had 2 flat polyps removed as well as multiple biopsies. Visually the duodenum was unremarkable, and my large bowel had granular mucosa. I started GF diet on New Year's Day.
2019 - Clot in IV site from sedation. Ultrasound showed it is still superficial. 1 Reg aspirin/day until it resolves. I got my gastro results yesterday but not specifics. Polyps were benign. I have confirmed celiac, but I don't know the extent of the damage yet. I have confirmed Microscopic Colitis, but I don't know the type yet. I have a follow up specialist appointment to go over the results on the 14th. I am VERY new at this. I am hoping my face, scalp, and odd torso rashes will clear up also. So far, 6 days in with GF diet my BMs went from 5-10/day with some during the night down to 1 WD yesterday. 1 softserve today so far! Gut sounds have drastically diminished. I understand from my reading that the WD may come and go. I am hopeful to be on the right track, FINALLY!

Genetics:
Factor V Leiden - heterozygous
Protein S Deficiency
TSC-II heterozygous
HLA-DQ2.5
HLA-DQ8
MTHFR - heterozygous
BRCA-1 (1 out of 25 SNPs)
BRCA-2 (1 out of 25 SNPs)

Diagnosis:
UE-DVT March 2011
Pre-cancerous mole 2014
Celiac Jan 2019
Microscopic Colitis Jan 2019

[kate1980]

Current symptoms:
WD 5-10x/day with some nocturnal
brain fog
some days my eyesight is blurry
noisy bowel
gut pains - more on right than left but all over really
scaly skin rash on face/head
raised itchy rash occasionally on both sides of torso just below ribs

[Gabes-Apg]

welcome Kate

Dont be overwhelmed by the Genetic information.

just because you have a genetic mutation in the test results - does not mean it is 'active' and even if it is active, you can reverse that active status.

you mention the symptoms you are having
what are you doing diet wise, supplement wise and medication wise

[brandy]

So far, 6 days in with GF diet my BMs went from 5-10/day with some during the night down to 1 WD yesterday. 1 softserve today so far! Gut sounds have drastically diminished. I understand from my reading that the WD may come and go. I am hopeful to be on the right track, FINALLY!

That is great news! Welcome to the forum! Sorry for the loss of your DAD.

[tex]

Hi Kate,

Yes, I believe that you may finally be on the right track. Be aware that with microscopic colitis, additional foods may need to be avoided in order to reach and maintain remission without medications. If so, your symptoms will likely become worse again after roughly a month on the GF diet (assuming that you're only avoiding gluten), if you don't avoid certain other foods. With the proper diet changes, your skin problems should slowly clear up as your gut heals.

That's quite a history. I'm curious about your father's bleeding problem (because my colon had to be surgically removed 9 years ago due to a genetic issue that causes massive colonic bleeding — I had to have 11 units of blood in about half a day, but fortunately they operated fast enough to save my life). My genetic bleeding risk came from my father's side of the family and it affects only males. My father and an uncle bled to death in a hospital. Was your father's bleeding problem in his colon?

Again, welcome aboard, and please feel free to ask anything.

Tex

[kate1980]

Hi Gabes -

Well, diet, supplement, meds...

I am new to this so I just started GF diet after my procedure Dec 31st. I haven't been on any meds or supplements yet. I have yet to meet with my GI to go over the results in detail and get a treatment plan for the MC - that is on the 14th. The procedure Dr. just sent me a general email yesterday on my biopsy results as she is a Dr. and not my GI.
After coming here I am seeing people eliminating so many different things. Will my doc order tests to see if I am deficient in things or sensitive to foods? I am kind of lost. I am hoping she'll break it down for me then. I am avoiding raw veggies as I don't digest them at all from my BM visual inspection LOL. I am kind of bummed about that as I love eating salads.
Wondering what is normal for the early part of diagnosis. I am a bit worried about being on permanent meds. I rarely even remember to take a multivitamin. I can be very determined and dedicated when I make my mind up to do something. Before my fatigue got bad I would jog 5-8 miles several times a week. Over the last year I have gained 20 lbs and have become quite sedentary. I really miss my mental unwinding during running. I hope I will be able to get back to it. It was becoming difficult for me to make it without having a BM. I will definitely update with the full details of what they saw on my biopsies after that appointment. I am a little shell shocked to be honest. :-(
Kate

[tex]

Kate,

Most doctors don't believe that diet affects microscopic colitis (MC), so I doubt that she/he will be helpful there. They like to prescribe powerful drugs instead. But as soon as the drug treatment ends, 85 % of MC patients relapse. The only lab in the world that offers food sensitivity tests that are accurate and reliable is EnteroLab in Dallas, TX.

After the medical approach failed to maintain relief from symptoms, we began comparing notes and discovered that MC isn't caused by food sensitivities, but the inflammation that causes MC is perpetuated by food sensitivities caused by MC (MC causes leaky gut, and leaky gut causes food sensitivities).

Tex

[Gabes-Apg]

First off, some hugs and i encourage you breath...

some answers/suggestions

After coming here I am seeing people eliminating so many different things. Will my doc order tests to see if I am deficient in things or sensitive to foods?

mainstream medicine is very slow/limited to acknowledge diet and linkage to inflammation with IBD's. A functional doctor may be supportive.

I am kind of lost. I am hoping she'll break it down for me then.

there are some rare doctors that are comprehensive supportive, sadly majority are not.

I am avoiding raw veggies as I don't digest them at all from my BM visual inspection LOL. I am kind of bummed about that as I love eating salads.
Wondering what is normal for the early part of diagnosis.

this is very common for many here, i lived on raw veges before MC diagnosis.
there is no such thing as normal! and what works for one, may not work for another, each of us have to find our way through the wellness /healing journey maze.

I am a bit worried about being on permanent meds. I rarely even remember to take a multivitamin.

if you implement the right MC management plan (eating, lifestyle changes ) then many here achieve fulfilling life without needing medications.

I can be very determined and dedicated when I make my mind up to do something. Before my fatigue got bad I would jog 5-8 miles several times a week.

that is a good foundation for MC management plan and achieving wellness!

Over the last year I have gained 20 lbs and have become quite sedentary. I really miss my mental unwinding during running. I hope I will be able to get back to it. It was becoming difficult for me to make it without having a BM. I will definitely update with the full details of what they saw on my biopsies after that appointment. I am a little shell shocked to be honest. :-(

very understanable - a common thing with MC is that people either lose lots of weight or gain weight. I was one that gained weight. With the right eating plan, lifestyle changes and finding exercise that suited me I lost that weight. when you body is healthy weight loss for overweight people (and weight gain for those that are under weight) comes easy.

breath, relax and know that you are asking the right questions and on the right path

take care
Gabes

if you are up to some more reading here are some good areas of the forum that will help
'guidelines to recovery'
https://perskyfarms.com/phpBB2/viewforum.php?f=79

Members Success stories area
what others have done, what worked, what didnt, how long it took
https://perskyfarms.com/phpBB2/viewforum.php?f=71

another good area - discussions about diet/medication if you read the posts and comments there is lots of good info
https://perskyfarms.com/phpBB2/viewforum.php?f=27

and Tex (wayne Persky) book which is there is a link in the top right hand corner

[kate1980]

Hi Tex -

Thanks for the welcome! Dad's bleeding wasn't genetic. When he had his last operable tumor removed he had part of his stomach removed and during that surgery they noted his aorta or another large artery prominent in that area, as a result they left part of the tumor. His mets were also in his liver which led to his bleeding tendency and he developed esophageal varices. Ultimately the tumor ulcerated the large artery and he bled out - twice. The first time his body managed to clot and slowed the bleeding. They gave him multiple units. Several days later it started again after they told him to eat whatever he wanted. He suspected the food scraped away the clot as it went through and it was a very messy ordeal for about 12 hours coming out both ends at that point. There wasn't anything they could do. I don't think dad ever had digestive issues so maybe he was just a carrier of one of the celiac genes, or possible that I got them both from my mother as she DID have symptoms she never figured out. Who knows!
Kate

[kate1980]

Gabes - thank you for the support. I was poking around with the resources on here and it seems I will be doing a lot of reading in my future!

Brandy - Hi, and thanks for the welcome!

Tex- I really hope my GI is they type that does NOT bring out the big guns medicine wise and suggests other sensitivity testing. It makes sense. I do remember my father having some kind of food sensitivity test when I was VERY young. I do not know what prompted him to do so. I know there were a lot of things on that long list to avoid including tomatoes, pork, sulfites, but I don't know what method they used to determine any of that. He also notoriously ate everything on the list with the exception of cured meats with sulfites and ignored the rest of the advice. I am not sure what the original issue was or if it resolved. He still would get cold sores from the sulfites, once had one on his eye even. (Ouch!) I am allergic to sulfa medications so I may have that sensitivity as well but I haven't ever had the cold sore virus so it wouldn't present that way for me. I will check out EnteroLabs - I would rather avoid the triggers than mask them with meds and deal with nasty side effects. I notoriously get every side effect for everything I have ever been on. Kind of a bummer!

Kate