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.
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.
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.
- Learn more about Ehlers-Danlos Syndrome: The Ehlers-Danlos Society
- Learn more about Joint Hypermobility Syndrome: Hypermobility Syndromes Association
Postural Orthostatic Tachycardia Syndrome and Inappropriate Sinus Tachycardia
I have written a lot about POTS since I started this blog: My Struggle with POTS, POTS Things, How This New Potsie Survived the CO Renaissance Festival, What is POTS? A Short Video by DI, New 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.)
- Learn more about POTS: Dysautonomia International
- Learn more about IST: Dysatonomia International
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!
- Learn more about EoE: American Academy of Allergy, Asthma and Immunology, and Eosinophilic Esophagitis Home
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.
- Learn more about ESI: International Foundation for Functional Gastrointestinal Disorders, and National Organization for Rare Disorders
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
6 thoughts on “World Rare Disease Day 2017: My Rare Illnesses and Condititions”
I can do most of those poses except the hands flat on the floor. Tight hammies. LOL Doesn’t seem to cause any other problems though….
Interesting post – thanks!
My legs have gotten much tighter with Pilates (which is a good thing) and age! I used to be able to put my hands flat on the floor with my fingertips on my heels… But now this is a struggle! I should have warmed up before taking the photos, because I sprained my MCL doing the w-sit… Oops!
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This is such a wonderful and informative post. I have been told I am double jointed and have hypermobile joints, but no diagnosis of EDS. Thank you for all of this wonderful info. and your photos are excellent! Wishing you all the best!
There is no such thing as being double jointed! You may not have EDS, as that typically has significant systemic involvement along with the hypermobility, but if most of your joints are hypermobile I’d think you definitely are likely to have joint hypermobility syndrome! If you do get the diagnosis, you can qualify for PT/OT or custom splitting to prevent injury. If it causes you pain/problems, it’s worth digging into!
Best wishes ❤
Good insight…I think the numerous pics are a great idea and helped a lot!
Thank you! I ended up spraining my knee taking the photos (oh, the joys of hypermobility, haha), so I’m glad they’re helpful 🙂 it makes it worth it!