Share this:
kate93
@kate93

Posts: 3
Joined: Apr 10, 2018

Undiagnosed & desperate.

Posted by @kate93, Tue, Apr 10 9:30am

Hi everyone, & thanks for any/all who may read this.

My background is really long and I am now in a place where my efforts are threateningly short, but I won’t give up on myself that easily. I know an answer is out there & I'm here on the hope that someone, ANYONE can help me.
Quick side-note: I first developed oral ulcers in late elementary school (around 4th grade), which slowly became progressive. While confiding in a co-worker in college about the painful severity of these lesions, she told me she had experienced the same issues & was diagnosed with Celiac disease. I visited my childhood allergist (I have had seasonal allergies since I was eight) who is also informed in food allergies wherein he tested me for a wheat ALLERGY (not a celiac panel – I am now aware of the differences now but was naive then) & said I wasn’t allergic, but to try eating gluten free. I did & my ulcers improved drastically only to come back about a year later. I am currently a 25 year old female, but this all began & escalated in the summer of 2016 when I was just 23. I started experiencing changes in bowel habits & abdominal issues concerning pain, bloating, etc. I saw my first GI doctor in September & he placed me on 20mg of Omeprazole daily after concurring a diagnosis of GERD. I returned in February for a follow-up as my original symptoms failed to dissapate & after the development of new ones. In March of 2017 I had an upper GI endoscopy, which supported the diagnosis of GERD & gastritis. I know he only sent six biopsies out for Celiac disease (which I wasn’t in favor of as I’d been 100% gluten free for nearly three years at that point). He speculated I might have SIBO (Small Intestinal Bacterial Overgrowth) and started me on a 2 week course of antibiotics Xifaxan specific for this condition. Diarrhea did not improve & my doctor introduced a drug called Questran (drink powder) to see if this would halt symptoms. This also failed. The next speculation was that my gallbladder or liver may be malfunctioning as fatty foods really, really escalate my abdominal issues. When I say “fatty” this term is inclusive of all fats – healthy or not, avocado or milkshake – all would have the same negative effect on my GI system & cause immediate diarrhea. Without testing for any specific conditions/diseases, my doctor places me on Creon, which helped somewhat (in the event I’d eat fats, which was rare) but nowhere near enough to say it was the be all, end all. By this point I was now seeing blood in my stool – bright red occasionally, typically dark/tar appearing stools, which stick to the sides of the bowl. Or stool with red and black spots throughout. I called my GI doctor & he immediately scheduled me for a colonoscopy, which I had about two weeks later in May of 2017. In this time, I had talked with a family friend & she told me her son who is around my age was recently diagnosed with Crohn’s Disease & that my symptoms sounded identical to his. I mentioned this to my GI doctor & he agreed after I asked my biopsies be tested for Crohn’s & specifically that it be taken from the terminal ileum. Well, after waking up from the procedure my doctor said my colon did not look inflamed but that I had internal & external hemorrhoids. A few days later I received a call from the GI office that my biopsies were negative for colitis & microscopic colitis. The only response I could form was, what? Reading my report it stated I had two biopsies from my colon that were tested for colitis. Following this, I did have a pillcamera test & the results were normal but that I had a “slow transit.” My GI doctor’s answer was basically that I have IBS & sent me to a motility center at a neighboring hospital. I gave it a chance & went. Long story made short, it was a load of BS. Those with IBS don’t bleed and I don’t have time or energy to wait around anymore.

I found a new GI doctor as I can’t stand this run around without answers anymore. In the meantime, my primary doctor suggested I see a rheumatologist. I went & saw one of the world’s leading rheumatologists & he did a full genetic blood-typing on me. The results came back that I have two mutations on the NOD-2/CARD15 gene. I see a new rheumatologist now who did another test which found I also have a positive HLA-B27 gene. She diagnosed me with Anyklosing Spondylitis & said I may develop crohn’s Disease one day & if I did, would have a severe case as those genes are linked with such disease outcomes. My treatment is to take Celebrex daily & that’s all. It helps my joint pain, but not my GI issues, which are my most debilitating crutch.

To hopefully clear the air of confusion, as I’m sure I’ve created some, I will list my symptoms here:
-GI: frequent diarrhea, blood in stool, weight loss & inability to gain/maintain weight, severe bloating/abdominal distention, pain/pinching feeling on right abdomen.
-frequent, recurrent & severely painful oral ulcers lasting about 10-15 days. Swabbed & tested for Herpes Simplex 1 negative. Non-cancerous in origin.
-heart palpitations: full cardiology workup: EKG, ECHO, stress test found no answers.
-joint pain, diagnosis of Ankylosing Spondylitis supports arthritis of a rheumatologic condition.
-sudden changes in eyesight causes need for glasses. Diagnosis of dry eye.
-Kidney Stone in the left kidney as evidenced as calcification on X-ray report.
-Believed benign tumor in the midpole of right kidney as evidenced in sonogram report. Further investigation is currently underway.
-Anemia was discovered at one time in bloodwork.
-Brain fog
-Memory loss, mostly short-term.
-Severe fatigue that leaves me unable to participate in my daily life the way I once did & would like to.
-Frequent urination
-Frequent thirst

Again, I apologize for the length of this post. Even moreso, I am incredibly grateful to those who read & can offer a response on my behalf. I would give up almost anything to be half of the person I used to be before all of this happened. If there is anyone out there with any sort of genetic background (both professional & personal experiences are welcomed) please lend any expertise you may have. In my own research as I’ve become my own advocate, I found a relationship between NOD-2 mutations & Crohn’s Disease. I feel as though genetics may really be of my benefit here.

As I type this, I thank you again. I am currently reeling from a sleepless night thanks to diarrhea & severe heart palpitations, both of which hindered & woke me from my sleep. I now have a huge ulcer under & on the side of my tongue that is leaving me unable to even swallow my own spit, much less talk or eat.

If I feel it is important, I will add anything I may have forgotten or feel is necessary as new things arise.

REPLY

Hello @kate93, welcome to Connect. I’m sorry to hear you are having a difficult time getting a diagnosis. Connect is a good place to share your health concerns and learn what other Connect members with similar health concerns are doing for treatments. There is currently another discussion for undiagnosed autoimmune diseases that may be helpful to read through here:
https://connect.mayoclinic.org/discussion/undiagnosed-auto-immune-disease/bookmark/?ajax_hook=action&_wpnonce=8933e3d2d7.

Also, I would like to invite other Connect members who have posted about undiagnosed autoimmune diseases to see if they have any suggestions. @lisabeans, @cmtg, @pinkmk, @aman_23_23, @mommaj, @tljam, @whitechinacat, @palscoreen, @terryblink, @pinkstar, @rebo, @v1crew, @jewel8888, @tbeckys, @WendyAnne, @559purplepatty, @atorset, @beff2468, @taterjoy do you have any suggestions you can offer @kate93?

I’m not sure if it is an option for you but if it is, the Mayo Clinic is very good at diagnosing health issues that are difficult to diagnose. If you would like to seek help from Mayo Clinic, you can contact one of their appointment offices. The contact information for Minnesota, Arizona and Florida can be found here:

Mayo Clinic Contact Information: http://mayocl.in/1mtmR63.
Mayo Clinic Tours – YouTube Videos: http://bit.ly/2o3jvMj

I thought this video maybe helpful to let you know you are not alone

What happens when you have a disease doctors can’t diagnose TED talk by TED Fellow Jennifer Brea who became progressively ill with myalgic encephalomyelitis, commonly known as chronic fatigue syndrome.

https://www.ted.com/talks/jen_brea_what_happens_when_you_have_a_disease_doctors_can_t_diagnose

John

@johnbishop

Hello @kate93, welcome to Connect. I’m sorry to hear you are having a difficult time getting a diagnosis. Connect is a good place to share your health concerns and learn what other Connect members with similar health concerns are doing for treatments. There is currently another discussion for undiagnosed autoimmune diseases that may be helpful to read through here:
https://connect.mayoclinic.org/discussion/undiagnosed-auto-immune-disease/bookmark/?ajax_hook=action&_wpnonce=8933e3d2d7.

Also, I would like to invite other Connect members who have posted about undiagnosed autoimmune diseases to see if they have any suggestions. @lisabeans, @cmtg, @pinkmk, @aman_23_23, @mommaj, @tljam, @whitechinacat, @palscoreen, @terryblink, @pinkstar, @rebo, @v1crew, @jewel8888, @tbeckys, @WendyAnne, @559purplepatty, @atorset, @beff2468, @taterjoy do you have any suggestions you can offer @kate93?

I’m not sure if it is an option for you but if it is, the Mayo Clinic is very good at diagnosing health issues that are difficult to diagnose. If you would like to seek help from Mayo Clinic, you can contact one of their appointment offices. The contact information for Minnesota, Arizona and Florida can be found here:

Mayo Clinic Contact Information: http://mayocl.in/1mtmR63.
Mayo Clinic Tours – YouTube Videos: http://bit.ly/2o3jvMj

I thought this video maybe helpful to let you know you are not alone

What happens when you have a disease doctors can’t diagnose TED talk by TED Fellow Jennifer Brea who became progressively ill with myalgic encephalomyelitis, commonly known as chronic fatigue syndrome.

https://www.ted.com/talks/jen_brea_what_happens_when_you_have_a_disease_doctors_can_t_diagnose

John

Jump to this post

Gluten free is a slippery slope way of eating. Read about the AIP diet. Gluten free products that are highly processed are unhealthy to say the least. Healing will not happen. Try the autoimmune Protocol for as long as you can stand and see if any symptoms subside. Not many can do it, the standard American diet is extremely hard to ween off of. Processed anything is very addictive. Hope you find your answers. If you can pick it, dig it…meat if you like…eat it. If it has a shelf life, leave it on the shelf. Good luck!!!

Hi @kate93,

I wanted to follow up, and hope you are feeling better? Although it sounds like you haven't got a firm diagnosis yet, I would sincerely encourage you to view the Gastroenterology & GI Surgery Page on Connect: https://connect.mayoclinic.org/page/gastroenterology-and-gi-surgery/ which is a great resource with videos by Mayo Clinic experts about IBD (Crohn's, ulcerative colitis) and Celiac Disease.
For example, here's a video on Genetics and Celiac Disease that might interest you:
https://connect.mayoclinic.org/newsfeed-post/genetics-and-celiac-disease-who-is-at-risk-1/

I'm tagging @wesbig @dmkmom04 who have written about carrying positive HLA-B27 gene, and they may perhaps have some more insight for you.
@kate93, have you considered being screened for non-celiac gluten sensitivity?

@kanaazpereira

Hi @kate93,

I wanted to follow up, and hope you are feeling better? Although it sounds like you haven't got a firm diagnosis yet, I would sincerely encourage you to view the Gastroenterology & GI Surgery Page on Connect: https://connect.mayoclinic.org/page/gastroenterology-and-gi-surgery/ which is a great resource with videos by Mayo Clinic experts about IBD (Crohn's, ulcerative colitis) and Celiac Disease.
For example, here's a video on Genetics and Celiac Disease that might interest you:
https://connect.mayoclinic.org/newsfeed-post/genetics-and-celiac-disease-who-is-at-risk-1/

I'm tagging @wesbig @dmkmom04 who have written about carrying positive HLA-B27 gene, and they may perhaps have some more insight for you.
@kate93, have you considered being screened for non-celiac gluten sensitivity?

Jump to this post

Hi @kanaazpereira & thanks for your follow up. I appreciate the link for further sources that I can research & explore… I'm always researching to better get myself to a place of diagnosis. It's been long & tiring and I am honestly in the place where I don't even care what the answer is, so long as I have one.

I am curious to hear from others with a positive HLA-B27 gene. My diagnosis of Ankylosing Spondylitis is firm, and my Rheumatologist believes my other genetic mutations (can't remember their exact numbers) of NOD2 – also called CARD15 or IBD1 could suggest Crohn's along with my clinical symptoms & other diagnoses. Just no gross findings as far as GI issues go. Yet, anyway.

I've learned it can take a while to be diagnosed with Crohn's, as it is oftentimes referred to as a "skip disease" wherein it moves throughout the digestive tract and can be easily missed. Can anyone weigh in on this here? Anyone who had clean scopes & eventually had one that was indicative of Crohn's? I'm pissed because my biopsies weren't ever tested for Crohn's… Just microscopic Colitis.

@kanaazpereira

Hi @kate93,

I wanted to follow up, and hope you are feeling better? Although it sounds like you haven't got a firm diagnosis yet, I would sincerely encourage you to view the Gastroenterology & GI Surgery Page on Connect: https://connect.mayoclinic.org/page/gastroenterology-and-gi-surgery/ which is a great resource with videos by Mayo Clinic experts about IBD (Crohn's, ulcerative colitis) and Celiac Disease.
For example, here's a video on Genetics and Celiac Disease that might interest you:
https://connect.mayoclinic.org/newsfeed-post/genetics-and-celiac-disease-who-is-at-risk-1/

I'm tagging @wesbig @dmkmom04 who have written about carrying positive HLA-B27 gene, and they may perhaps have some more insight for you.
@kate93, have you considered being screened for non-celiac gluten sensitivity?

Jump to this post

@kanaazpereira I apologize, as I meant to answer your last question. However, yes, I have received a clinical diagnosis of Non-Celiac Gluten Sensitivity. I was told there is no one "test" but to rule out Celiac, and then if symptoms dissolve/are made better by eating a gluten free diet that this diagnosis can be made. I was diagnosed in November of 2014 and have been gluten free since. My current GI symptoms came about years later in the summer of 2016 and have persisted although I maintain this diet.

Hi @kate93,

You may wish to see this discussion in the Bones Joints & Muscles group too:
– ankylosing spondylitis https://connect.mayoclinic.org/discussion/ankylosing-spondylitis/

Please login or register to post a reply.