World Rare Disease Day 2017: Infographic

Today is World Rare Disease Day! Please help start the conversation about rare diseases and conditions. So many people deal with rare conditions on a daily basis, but many must struggle for years before getting the proper diagnosis. Once diagnosed, it can then become a major challenge to find treatments and support! Wear denim today to show that you #CareAboutRare and let’s get the conversation started!

You can learn more about my personal rare diseases in my first WRDD post!

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!


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.


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.


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.


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

New Cardiology Appointment: New Diagnosis Journey Started, Old Diagnoses Being Reviewed

On February 8th, I finally started care with a new cardiologist who was highly recommended to me by a spoonie friend with POTS: Nichole from Undiagnosed Warrior. Unfortunately, he’ll be moving to Kaiser in about 3-6 months… the one place I can’t possibly follow him to!


(If you aren’t familiar with the healthcare of America, we have private insurance companies that let you see almost any doctor. You usually aren’t tied to a specific hospital or network of doctors. Kaiser is different. If you have Kaiser insurance, you can only see the doctors in a Kaiser hospital/network; if you don’t have Kaiser, you cannot see Kaiser doctors or use their hospital. I do not have Kaiser.)

Why did I say “finally started” with a new cardio? Well, I’ve been having a lot of problems with my old cardiologist. I’ve been seeing him since my POTS diagnosis (he’s the one that gave me the Dx), and have always left each appointment with a “I don’t know about this” attitude. Dan also didn’t have much confidence in my old doctor, and we were struggling with my POTS a lot. Every time I went in, I felt like my concerns weren’t listened to. I would tell him I was still extremely dizzy and he would just reiterate that my “numbers are fine” and not come up with anything. A few times, he suggested that I get evaluated for ear problems. My ear specialist is almost positive that my ears are fine, and I’d tell my cardio that, and his responses always felt very similar to “it’s in your head.” The final straw was when I tried to mention my freezing toes.

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More Dietitian Changes – LEAP/MRT Program

The dietitian has changed things again! I saw Kara on February 6th to follow-up on the low FODMAP diet. As I mentioned in my last low FODMAP roundup, the diet really didn’t seem to be doing anything for my symptoms. Since it wasn’t helping at all, she took me off the diet completely! Of course, I’m still eating sort of low FODMAP since I still have so many groceries… but I’ve been able to eat some of my favorite foods that were taken away from me (burritos is a big one).

Obviously, we have just changed what we’re going to do. For now, I’m on a free diet (I can eat anything I want), but it won’t be staying that way at all. Nope. We have moved forward with the LEAP/MRT protocol. LEAP = lifestyle eating and performance, and MRT = mediator release test. I got my blood drawn for the testing February 10th, and it’ll take a little bit for the results to come back.


Image: The Times, UK (credited in the article to Getty Images)

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Valentine’s Day: The Day to Celebrate Love

I love holidays, all holidays! My mom always made a big deal out of them when I was a kid: the entire dining room would get completely decorated (every bit), and there would be other small decorations scattered about the house; there would be some sort of present, even just small little goodies like some candy or fun socks, to open with breakfast; even special meals, like green eggs at St. Patrick’s Day or pink pancakes for dinner on Valentine’s Day. The holidays were some of my favorite times, and not just because I was a kid getting presents. Each holiday was special, just the excitement of family time! (Every time I test for my “love language” I flip flop between being word based and action/quality time based. ) My family would play games or watch movies together, and I loved that. Because the holidays were always so special to me, I do my best to continue the celebrations now that I have my own house and husband!


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KmS Mineral Essentials Clear Skin Challenge – Conclusion

This product was given to me by KMS Mineral Essentials for trial use. Even though I received this product as a gift, all opinions expressed in this posting are my own, and all results are genuine. I do not receive any additional compensation if you click on any of the links included in this post.

For the month of January, I took part in the KmS Mineral Essentials “Clear Skin Makeup Challenge.” To learn about what that was, and what that entailed, see my first post about it!

Originally, I wanted to do weekly posts, but I honestly wasn’t seeing that much difference in my skin. I was getting more compliments, and the texture did improve though! (I just look too closely at my face regularly apparently.) Visually, however, I think my main problem is now the size of my pores. Continue reading

The SI Joint Injection

At the end of my MRI Results post, I mentioned that I would be going forward with a cortisone injection in my right sacroiliac (SI) joint… then I kind of disappeared! Oops! I didn’t mean to disappear, I swear. However, part of my disappearing act was actually due directly to the injection.

I got the injection on Friday, January 27th, at 1:30pm. Yes, the timing matters.

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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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FODMAP Diet – Weeks 3 & 4 Roundup

Sorry to those of you that have been following my FODMAP journey, these last two weeks have been absolutely ridiculous.

Week 3 has very few entries, which is why I’m combining it with Week 4 for this post. Dan, my husband, went on a business trip the 18th through 21st. He travels occasionally for work (he gets to go to launch sites to help launch rockets), and this was his first trip of the year. It was the first time he’d had to travel while I have been on the new eating schedule, and it didn’t go well for me – turns out I need to use far too much energy making food to actually do much else when I’m left to take care of the cats and myself for 4 days. On top of the business trip, I also had my follow-up appointment with Dr H (the physiatrist) to go over my MRI results on the 19th, and that didn’t go well (you can see the results here); It took a serious toll on my mental health. Because of everything, I decided to just skip the logging the 18th through 22nd to take care of my mental and physical health.

(LF = lactose free; GF = gluten free)

Week 3 FODMAP Diet: January 16-22

Monday, January 16
  • 6:45am: raspberry jelly toast; LF vanilla yogurt
  • 9:30am: ProNourish; 2 oatmeal pancakes without syrup (cold)
  • 12pm: a bunch of red grapes; hardboiled egg
  • 2pm: Sunbutter and grape jelly rice cake
  • 4:30pm: Babybel; blueberry lemon muffin with cinnamon sugar
  • 7:15pm: quesadilla (rice tortilla, mozzarella, chicken, tomatoes)
  • Fluid: 2.22 liters
Kale Banana Smoothie, complete

Kale Banana Smoothie

Tuesday, January 17
  • 6:45am: oatmeal with brown sugar (make sure there are no molasses); hardboiled egg
  • 9am: spinach and banana smoothie (sub. spinach for kale in this one)
  • 1.5 hour nap
  • 12:10pm: Sunbutter and grape jelly rice cake
  • 2:30pm: 2 oatmeal pancakes without syrup (cold); Babybel
  • 4:45pm: mashed potatoes made with Fairlife LF milk
  • 7:15pm: grilled tomato, ham, mozzarella sandwich
  • Fluid: 2.11 liters

I did make sure that even though I wasn’t logging, I was following my diet and the timing of my eating schedule. I was also ensuring I was drinking my average amount of fluids every day. I just had no energy to write anything down.

Week 4 was also interesting. I had my important immunology appointment on Monday, at National Jewish Health (write up coming soon) which took a bit longer than expected. Then on Friday, I got my cortisone shot in my right SI joint. For the cortisone shot, I had to be NPO (no idea what it stands for, but it means nothing by mouth at all, not even water) for at least 4 hours before the procedure. Since my stomach doesn’t always like to empty properly, even though I don’t have gastroparesis, I wanted to be sure I gave myself at least 5 hours. My shot wasn’t until 1:30pm, so that meant I wanted to eat by 8am. I decided to wake up at 6am (to ensure I had enough time to prepare food and get back to sleep) and eat breakfast, then I went back to sleep as long as I could, then went to my shot. I wasn’t able to eat until I got home (I did bring food, but I was sleepy and nauseous) at 4pm. Otherwise, the week was pretty smooth.

Week 4 FODMAP Diet: January 23-29

Monday, January 23
  • 6am: oatmeal with brown sugar; hardboiled egg
  • 8am: Babybel; Bobo’s bite (original)
  • 10:30am: ProNourish; veggie straws
  • 12pm: Sunbutter and grape jelly rice cake
  • 3pm: quesadilla (rice tortilla, mozzarella, deli ham, tomatoes)
  • 5pm: one oatmeal pancake without syrup (cold)
  • 7:30pm: raspberry jelly toast; scrambled eggs
  • Fluids: 2.07 liters
Tuesday, January 24
  • 11:15am: raspberry jelly toast; LF vanilla yogurt
  • 1:30pm: Sunbutter and grape jelly rice cake
  • 3:30pm: cinnamon rice cake; ProNourish
  • 5pm: Bobo’s bite
  • 7:30pm: grilled ham, tomato, mozzarella sandwich
  • 9:30pm: LF vanilla ice cream
  • Fluids: 2.28 liters
Wednesday, January 25
  • 7:30am: raspberry jelly toast; hardboiled egg
  • 9:30am: spinach banana smoothie
  • 12pm: Sunbutter and grape jelly rice cake
  • 2:30pm: Babybel; veggie straws
  • 4:30pm: ProNourish; banana
  • 6:45pm: chicken; brown rice
  • 9:30pm: 4 Pamela’s Simple Bites snickerdoodles
  • Fluids: 2.99 liters
Thursday, January 26
  • 11am: raspberry jelly toast; LF vanilla yogurt
  • 1:30pm: Sunbutter and grape jelly rice cake
  • 3:30pm: Babybel; veggie straws
  • 6:15pm: GF homemade pizza (sauce, GF crust, mozzarella, deli ham)
  • 8:30pm: LF vanilla ice cream; 2 Andean Dream Cocoa Orange Quinoa cookies
  • Fluids: 2.18 liters
Friday, January 27
  • 6:15am: oatmeal with brown sugar; hardboiled egg
  • 4:30pm: Sunbutter and grape jelly rice cake
  • 7:30pm: Yardhouse grilled chicken and avocado sandwich* ; plain French fries
  • Fluids: 2.96 liters
Saturday, January 28
  • 11am: raspberry jelly toast; LF vanilla yogurt
  • 12:30pm: Sunbutter and grape jelly rice cake
  • 2:30pm: spinach and banana smoothie
  • 5pm: veggie straws; ProNourish
  • 7pm: two grilled ham, tomato, mozzarella sandwiches
  • 9:30pm: raspberry sorbet; 8 Pamela’s Simple Bites snickerdoodles
  • Fluids: 3.68 liters
Sunday, January 29
  • 11am: raspberry jelly toast; hardboiled egg
  • 1:15pm: Sunbutter and grape jelly rice cake
  • 3:45pm: spinach and banana smoothie
  • 6:30pm: GF homemade pizza (sauce, mozzarella, deli ham)
  • Fluids: 3.15 liters

*I had to modify the sandwich from Yardhouse: lettuce wrapped, no mayonnaise; the chicken was seasoned only with salt and pepper (we called ahead) and the fries are just potatoes cooked in plain canola oil with no seasoning

So far, the diet doesn’t actually seem to be helping much. I’m still going to bed quite bloated, but some nights are far worse than others. I’m almost positive that the bloating and digestive problems I have are due to food allergies, and I’m still eating trigger foods. However, I have noticed I do feel a bit better when I drink the LF milk as opposed to regular milk (thinking about it, I was a bit sluggish feeling after drinking normal milk) so I may stick with that anyway.

There will be one more FODMAP week before I see Kara (the dietitian) again. I’ll probably get put on another diet, or a modified diet of some sort anyway, so I will likely continue these roundups. I will work on getting more recipes posted, regardless of what comes from my follow-up!

Other Posts About My FODMAP Diet: