It’s Almost Time to Get the LEAP Results!

My LEAP/MRT follow-up with the dietitian is on the 21st, so just 7 days now! While I’m really nervous about what I will be able to eat, I’m very excited because I think this will really help!

For an overview of LEAP/MRT, and why we are going that route, be sure to check out my More Dietitian Changes post!

Dan and I have definitely noticed that there are a few meals that make me feel quite ill, so we decided it would be fun to make some guesses. There are also foods that cause significant oral symptoms (itching, tongue rash, etc) and that seem to trigger my eosinophilic esophagitis (E0E). Obviously, Dan was only able to make his guesses based on the times I’ve told him something seems off. These guesses are just for if we think the foods will be “not green” (either yellow or red), not the degree to which they will be no good. Continue reading

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World Rare Disease Day 2017: My Rare Illnesses and Condititions

World Rare Disease Day happens on the last day of February every year! Since this year is not a leap year, that means it’s February 28, 2017!

What is World Rare Disease Day?

World Rare Disease Day (or WRDD) is a day set aside for awareness about rare illnesses and conditions. I found out about it through the non-profit patient advocacy group, Global Genes. WRDD is a day of awareness, in the hopes of spreading the word about rare diseases and starting the conversation. There are approximately 7000 rare diseases (the list changes often due to conditions both leaving the list due to too many cases, and new diseases being discovered and classified), and an estimated 300 million people world wide have a rare condition. Some/Many of these rare illnesses are fatal, some are fatal in childhood. Rare illnesses all have one thing in common: not enough work is being done to find effective treatments! Sadly, when so few people have a condition, it’s extremely difficult to get researchers interested and even harder to get pharmaceutical (or medical tech) companies interested. This is why it’s important to care about rare! With more than 300 million of us impacted by rare conditions, we need research!

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What Rare Conditions Do I Have?

Though I have several invisible illnesses, only four (with a possible fifth) of them are considered rare based on the criteria for the Global Genes Rare Disease List, which essentially just means that there are fewer than 200,000 cases in the United States. My rare illnesses: Ehlers-Danlos syndrome (EDS), eosinophilic esophagitis (EoE) and possible enteritis, postural orthostatic tachycardia syndrome (POTS), and inappropriate sinus tachycardia (IST).

Yes, I did say EDS. Technically, I haven’t been diagnosed yet, as I’m waiting on my genetics appointment in August. However, I do have a diagnosis of joint hypermobility syndrome. There is a lot of research that says that joint hypermobility syndrome and EDS (specifically type 3) are the same. Based on everything I can find about EDS, I definitely have it. I just need to find out which type I have and rule out other conditions. So, for all intents and purposes, I have EDS.

Ehlers-Danlos Syndrome

EDS is a complex  condition. There are several types of EDS, and all of them have slightly different presentations. The common thread is that they are all caused by a defect in collagen or other connective tissues. Collagen is in literally every cell in your body. The cells that are most impacted by this lack of “proper” collagen, are the cells that determine your symptoms. For example: vascular EDS has a defect in the collagen of blood vessels, which leads to weak vessels and can lead to spontaneous organ rupture. EDS, all types, is something you are born with and will have your entire life.

Hypermobility type EDS, the type I most likely have, means that I mostly have a defect in the collagen and connective tissues that impacts my joints. This means that my joints are extremely unstable, and I’m “double jointed” in many areas. THERE IS NO SUCH THING AS DOUBLE JOINTED! I only used that phrase so you would understand what I was saying. My joints hyperextend, which means they extend past what is considered a “normal” range of motion. Some of my joints are far more impacted than others: some of my fingers, my elbows, my shoulders, my ribs, my vertebrae, and my hips. My knees used to be a major problem, along with my ankles, but those have both been helped dramatically by Pilates. However, it doesn’t just impact my joints. Unfortunately, all EDS types have systemic complications. Some of my IBS issues and my dysautonomia could both be caused or made worse by my EDS.

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There is no cure for EDS, but there are therapies and treatments that can help with some of the symptoms. I do Pilates based physical therapy once a week, and I try to do weekly Pilates group classes under the supervision of my physical therapist when I’m well enough to do so. The gentle strengthening and stretching has helped dramatically in the stabilization of several of my joints. Unfortunately, this isn’t a perfect treatment (see these posts about what suddenly went wrong: 1, 2, 3), and I still have to deal with complications at times, but it’s been the most helpful things I’ve done to date. I’m also about to start hand therapy for my finger problems, and may need to get custom finger braces. The main “treatment” is bracing. I have braces for almost every joint, and I use them all pretty regularly. The braces are used on joints that are suddenly in pain and have become weak to help prevent over-fatigue and injury. However, you have to be careful with how often you use certain braces and which types of braces you use, as they can lead to muscle atrophy and a worsening of symptoms.

Postural Orthostatic Tachycardia Syndrome and Inappropriate Sinus Tachycardia

I have written a lot about POTS since I started this blog: My Struggle with POTSPOTS Things, How This New Potsie Survived the CO Renaissance FestivalWhat is POTS? A Short Video by DINew Cardiology Appointment, and October is Dysautonomia Awareness Month. You can get to all of my POTS posts by visiting my POTS category page.

I have written a bit less about IST, because I can’t actually tell if I have any different symptoms from the IST that aren’t from the POTS. My post New-ish Diagnoses explains a bit about IST.

Both POTS and IST are forms of dysautonomia. Oddly enough, it’s thought that POTS isn’t actually a rare condition, but is just rarely diagnosed. However, for now, it’s considered a rare condition which is why I’m including it! Both POTS and IST are primarily diagnosed by a marked increase in heart rate (tachycardia). POTS is an inappropriate increase in heart rate when you move from lying down to standing (more than 30 beat per minute increase, or heart rate going over 120 bpm when you stand). IST is associated with a heart rate of 100 bpm or higher when at rest, and a “mean 24-hour heart rate of 90 bpm” with no known cause (Source: Dysautonomia International). I am on the low end of the diagnostic criteria for IST, and don’t actually know what my 24-hour heart rate is. However, I definitely have postural tachycardia.

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Being forms of dysautonomia, both conditions are systemic. Dysautonomia just means a malfunction of the autonomic nervous system, which is responsible for all the automatic functions in your body. My heart rate is profoundly impacted, but so are my blood pressure, temperature regulation, and digestion. Little things creep up all the time that can potentially be explained by the dysautonomia. This condition probably impacts my life far more than any other singular condition. Every single day, I have dysautonomia symptoms. It’s a massive struggle. Unfortunately, I may have these problems my entire life and my goal is simply to find ways to effectively minimize my symptoms. There are very few effective treatments, and it’s very much a guessing game as to what will work and what won’t. Hopefully, someday, I won’t struggle with it as much as I do now.

(Recently, I switched cardiologists and these two diagnoses are now under review. My new cardiologist isn’t so sure I was properly diagnosed the first time. He definitely agrees I have some form of dysautonomia, but we’re starting over testing to better determine what is going on. You can read more about this here: New Cardiology Appointment.)

Eosinophilic Esophagitis

Eosinophilic esophagitis, or EoE, was an exciting diagnosis. Not in the way that learning you’re going to your favorite amusement park is exciting, but it was a wild ride with very dramatic symptoms!

Eosinophils are a type of white blood cells. They help fight complex infections and play a role in both allergies and asthma. It is normal to have low levels of eosinophils in your blood when you are ill (especially if it’s with parasites) or if you have seasonal allergies. However, eosinophilic conditions go above that normal.

In EoE, there is a build-up of eosinophils in the tissue that lines your esophagus. When the eosinophils are activated, they cause swelling. Unfortunately, the eosinophils in EoE are extremely sensitive and are easy to trigger. This means that your esophagus will swell. Sometimes, the triggers are foods; sometimes, environmental allergens can trigger them. I have both trigger foods (though we are still trying to determine what they are) and trigger environmental allergens.

When the eosinophils get triggered, the esophagus (aka: food tube/pipe) will swell dramatically. Since it’s the esophagus swelling, you can still breathe, it just hurts due to the neighbor being swollen and irritated. (It’s important to note, with EoE the esophagus is almost always swollen as the eosinophils cause irritation.) This dramatic swelling can cause slow swallowing, pain, and food impaction (the food gets stuck). Food impaction is considered a medical emergency, and requires immediate medical intervention. It can get so bad that you can’t even swallow your own saliva. Food impaction is extremely painful, as your throat will continue to spasm in an attempt to pass the food, but it’s being held tight by the swelling and refuses to move. This dramatic swelling can cause a build up of scar tissue, which can eventually lead to an esophagus that won’t work. If your esophagus doesn’t work, you will end up on a feeding tube for the rest of your life. Therefore, people with EoE must be extremely careful to avoid their triggers in the hopes of preventing as many “episodes” as possible. Unfortunately, the triggers can change. Something what was safe one day, could suddenly not be safe moving forward. It’s very scary.

For me, it started several years before I got diagnosed. I would occasionally have trouble swallowing. I thought I was just eating too fast and not chewing thoroughly. Then, I ended in the ER and got referred to a gastroenterologist. Normally, if food would get stuck, I’d have Dan hit my back until the food dislodged and I could swallow it or I would vomit. The episodes were getting more frequent, and I was worried about what that could mean. Then, I was out eating with Dan, my mother-in-law, and my brother-in-law. Food stuck in my throat, and I couldn’t get it to dislodge. I was running from the table, where I would have Dan pound on my back for a bit, to the bathroom to hopefully throw up (and spit out my saliva). It wasn’t working, and it started to get difficult to breathe. I assumed that peanut butter had somehow ended up in my milkshake (the place did offer peanut butter shakes) and that I was having an allergic reaction. I didn’t have Epi-pens at the time, so I took two Benadryl and chewed them. Chewed up Benadryl stings and tastes atrocious! It wasn’t working, and I told Dan we had to go to the ER immediately. (I started vomiting the Bendaryl as soon as we got outside, and then started getting cursed at by some people who must have assumed I was drunk as it was the 5th of July. We ignored them.) Luckily, we were in Casper, WY and no where in town is more than 10 minutes from the ER (we were only about 5 minutes away). My O2 stats were just fine, so they realized it wasn’t an allergic reaction. They discovered it was a food impaction (or determined somehow, it’s a little blurry), and a young doctor knew of a new way to remove the impaction without a scope. They gave me a drug cocktail of morphine, nitroglycerin, and glucagon. The cocktail worked, and my esophagus opened back up and I was finally able to swallow. My throat hurt, horribly, and I got horribly ill from the medications. (As I’ve now discovered, I do not react well to either morphine nor nitroglycerin.) We went to the grocery store and bought some applesauce and pudding cups, because I was told to avoid solid foods for a while.

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After that incident, I set up an appointment with a gastroenterologist at home (not in Wyoming). The gastroenterologist performed an upper endoscopy and confirmed EoE. We trialed a few different drugs, but now we have found something that works. Unfortunately, I recently got a throat infection that made my EoE act up. It does not appear that my EoE will go back down to the baseline it was before the infection, so I may be stuck with a higher dose of my medication for the rest of my life. The throat infection spurred me to buy two reusable respirators to help prevent me from getting ill and to prevent me from inhaling as many allergens when I’m out and about. They definitely help!

Eosinophilic Enteritis

This is eosinophilia of the small intestine. Technically, it also goes by the abbreviation of EoE or EE, but for the purposes of this article I will use the acronym ESI. This is not a firm diagnosis yet, but it is strongly suspected. You can read more about what my gastroenterologist thinks in this post: Gastric Emptying Study Follow-Up.

ESI behaves much the same way as EoE, but in a different location. The swelling happens in the small intestine, and can cause food to pass slowly. This can cause delayed gastric emptying, bloating, painful stomach distension, and constipation. We’ve ruled out most things that could be causing my GI symptoms, so my gastroenterologist suspects I may have ESI. It’s extremely rare, but it’s one of the only things he has left that could describe my symptoms. Hopefully, the LEAP testing I’m doing will help manage it.

If the LEAP testing isn’t as successful as we hope it will be, my gastroenterologist wants to do another upper endoscopy, but with a scope that is longer and can get further into my small intestine. Even if he doesn’t find concentrated eosinophils in the first few feet of my small intestine, I could still have ESI. You see, you can have eosinophilic conditions in just a few areas of an organ, so he could miss the patch of eosinophils. But I think I’d be willing to risk it to possibly get more answers.

Hopefully, we can identify several of my triggers via the LEAP testing, and get a better handle on both my EoE and ESI.


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Please feel free to ask me questions about any of these conditions! I will answer what I can, and can direct you to research and organizations that may be able to better answer your questions! Let’s get the discussion going!

Also, don’t forget to wear denim Feb. 28th to show that you Care About Rare! (Global Genes, get it?)



Global Genes Images available here

FODMAP Diet – Week 5 Roundup

This was likely my last full week on the low FODMAP diet, as I see Kara (the dietitian) again on Tuesday, February 7th. I had forgotten to log the days I felt bloating and other symptoms like that, but they haven’t decreased at all on this diet. Most days, I am still extremely bloated in the evening. This entire last week, I felt incredibly overfull and was having to force myself to eat on my meal schedule (every 2-3 hours). I’ve been having a lot of nausea, and have taken at least one Zofran every day. To top it all off, my eosinophilic esophagitis is acting up, but I think that’s due to the new nasal spray the immunologist gave me (if it continues for another week, I’ll be emailing them to let them know I’ll be discontinuing it).

I’m really not feeling any better on this diet, my symptoms haven’t improved, and I’m fatigued/overwhelmed by the restrictions and inability to eat out and need to carry a cooler with me everywhere I go. I’m almost positive, now, that my GI was right and that my symptoms are being caused by eosinophilic enteritis… or that they’re at least food allergy/sensitivity related. (No, I am not gluten sensitive. I have been tested several times, and every time I eliminate gluten I get sicker.)

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The Specialist Allergist/Immunologist

My specialist immunology appointment was Monday, January 23rd. In summary, I got the referral (it’s a referral only clinic) due to confusing allergy shots complications. I was thinking I probably had MCAS (mast cell activation syndrome/disorder), my gastroenterologist suspects I may have eosinophilia of the small bowel, and I really just want to know what’s going on and why I’m so itchy all the time. Thankfully, none of my unknown allergy attacks have actually resulted in anaphylaxis; I just get miserable.

Reaction to First Pollen Shot

My arm after an extremely low dose allergy shot.

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Gastric Emptying Study Follow-Up

On the 28th of December, I had a gastric emptying study done. Today, the 6th of January, I had my follow-up appointment with my gastroenterologist. It wasn’t quite what I expected…

First of all, let me explain what a gastric emptying study is. While the way they are conducted can vary quite a bit, the premise is the same: eat some food with a radioactive tracer in it, then get scanned periodically to see how fast the food empties from your stomach. For me, I had to eat some radioactive eggs (more like, one very small scrambled egg), then I could eat two pieces of toast with jelly, and I got a shot glass sized amount of water to wash it all down with. After I ate, they scanned me immediately to get a baseline (see what 100% looked like). For the next four hours, I was not allowed to eat or drink anything at all. Yes, four hours; I sat in a pretty, sunny hallway and read a book for four hours, minus the few minutes each scan took. The scanned me again at one hour, at two hours, and at four hours. After I left, they calculated the percentage of food left in my stomach at each scan, then sent the results to my doctor.

Gastric Emptying Study imaging machine

The scanning machine; I stood between the two giant paddles while they were scanning me.

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What Are Your Respirator Mask Recommendations?

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I’ve concluded I need a reusable respirator mask that I’ll wear more often.

The allergist that had been dealing with me (I’ve stopped seeing him for various reasons) told me to get an N95 mask to wear whenever I’m around airborne allergens – like when I’m cleaning, gardening, etc. He wasn’t entirely clear how often I was supposed to be wearing it, but it’s supposed to help reduce my permanent rhinitis and my eosinophilic esophagitis (EoE) symptoms.

My recent throat infection horribly flared up my EoE and made me realize I need something to reduce infections and filter allergens… on a regular basis. There was also a wildfire less than ten miles from my house, at the tale end of my infection, and it really brought the point home. My EoE is still completely flared up.

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Potential Silent Reflux

The last several weeks, I’ve been absolutely miserable with allergy symptoms: crazy amounts of phlegm in my nose/sinuses, crazy amounts of post-nasal drip, even more intense nausea than normal (probably from swallowing all the phlegm), extremely itchy skin, itchy eyes, itchy ears, itchy nose, etc. It’s been extremely painful actually.

So why all the symptoms? I just assumed it’s because EVERYTHING is blooming. There is so much cotton blowing around (from cottonwood trees) that it looks like there was a giant pillow fight somewhere; the cars have been yellow for weeks thanks to the amount of pollen in the air.

Pollen Death

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FINALLY a Recovery Cocktail

How do you recover from a month of crazy emotional stress, travel stress, chronic illness, and allergy testing?

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Zofran, Tramadol, two Benadryl, two Excedrin Extra Strength

I just got home from my allergy testing, and this is the first thing I did. Well, technically the second. This has just been the most ridiculous month, and definitely not in a good way. Grama passed on the 3rd, and now suddenly it’s the 19th. I do not know what exactly happened to the month of April, but I do know it has been a giant ball of stress of all kinds.

Here is why I’ve been a ball of stress:

Chronic Living – Buzzfeed

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Living With A Health Problem | Buzzfeed

Here’s a collection of good quotes about living as a young adult with chronic health issues.

The Ear Saga Continues -&- Crazy Allergies -&- Functional Medication

So, as I mentioned earlier: I have another ear infection. Yes, another one. Yes, the same ear that was just operated on. Yes, the same ear that has pretty much been non-stop infected since mid-March. Yes, I’m about to rip it off and throw it out the door and make it fend for itself.

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