I made an appointment to see the only adult geneticist in the state of Colorado over one year ago. (Read more: here.) It was actually fourteen months ago. The appointment was because I wanted to know for sure if I had something more specific than the joint hypermobility syndrome my rheumatologist diagnosed me with (as a working diagnosis).
So I waited… and my appointment was just on Monday! I’m extremely excited about it, and it was one of the best appointments I’ve ever had.
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!
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!
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.
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.)
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.
Image: News Medical
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!
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
As you probably know, I’ve been struggling with some serious back pain and problems since October. Using this pain scale, I have been at an eight since October. Sometimes I get lucky and might drop to a six, but that is extremely rare. It all started so suddenly, that my physical therapist – I’m in constant physical therapy to help keep my body functional despite my health problems – got quite concerned. She thought it would be a good idea if I went to an orthopedist.
The orthopedic appointment was a nightmare. Continue reading
Over the last several weeks, I have been dealing with the first massive complication from my joint hypermobility syndrome (JHS) that I’ve ever had… At least, that’s what we think it is as of right now. If you’ve been following me on Instagram, then you know what’s been going on. If not, let me fill you in now:
I’ve had several vertebrae in my back dislocating. Yes, several. My pelvis has also been trying to dislocate in several places, and my SI joints have been severely dysfunctional (dislocating and getting jammed). I also subluxed – partially dislocate, but it pops back into place by itself – my left hip the other day. Obviously, I’ve been in pretty severe pain for a few weeks.
Source: Yarra Osteopathy
For those of you not following my Instagram (which, why not?), I did get in to see the hand specialist on the 16th! It was much sooner than I expected to be able to see them.
After a physical exam and some x-rays, it was determined that my thumb is actually … okay. Well, it’s probably recurring tendonitis or something like that. He said I could do an MRI if I wanted, but since my thumb was starting to feel better already I figured it probably wouldn’t show anything (though the next time it flares up badly I’m going to request one). My other options were to do nothing, request specific occupational therapy or physical therapy, or steroid injections. I didn’t like any of those options so I was trying to be more specific about how I can’t even write because it hurts too much.
I have decided to do genetic testing for Ehler-Danlos Syndrome, even though I know that EDS Type 3 (Hypermobility Type) doesn’t have a genetic marker. However, when I look at the list of typical symptoms for classic EDS, I have a lot of those too, so I want to be sure I don’t have that one. I do fit EDS Hypermobility Type far better, but I want to know for sure.
So I called my rheumatologist, who had mentioned giving me a referral to a geneticist if I wanted to pursue testing. He sent a referral over to the geneticist and when I got the phone call, I find out they are the ONLY adult geneticist in the entire state of Colorado! Because of that, the wait to get in is obscene. I am on the calendar and now I’m on the wait list, just in case an opening appears.
My appointment?
Previous Post: Internal Struggle
My mom decided to unfollow my blog. She wasn’t upset, but she didn’t want me to feel like I needed to hold back. While I’m kind of relieved, because now I can be completely honest without stressing about the tenuous relationship I have with my family… I’m unsure about how communication is going to work regarding my illnesses and such now. Oh well, I guess we’ll see. Maybe now we’ll actually talk.
I do have a post I’m trying to figure out how to structure. It might turn into a series of posts. Recently, I’ve been struggling at coming to terms with my Joint Hypermobility Syndrome (JHS) (potential EDS). Why have I been struggling? Because it’s a condition I was born with and that means I have had it my entire life. Why is that a struggle? Because I didn’t get diagnosed until just recently, even though I’ve had symptoms and very definitive signs my entire life. Yeah. So I’m trying to figure out how to structure the post/series properly and how to make it informative and therapeutic. It’s been a major part of my thinking lately, which is why I haven’t really been posting.
Well, I also haven’t been posting much because I’ve been in a pain and Tramadol induced haze for the past several days due to my back. Stupid back.
Hopefully, things will start to come together soon.
I’m so crazy sore from skiing on Monday! I used muscles I haven’t really used in three years. Ouch! The last time I went skiing was March 2013. Crazy how many unique muscles it uses! Thankfully, it’s just the type of sore from working out hard, not from fibro or anything like that! Pilates helped me dramatically. I don’t think I could have lasted as long as I did if I hadn’t been doing Pilates. Seriously, Pilates is changing my life in so many amazing ways! Everyone should try it!!!!
In fact, I was able to do a Pilates reformer class today (a gentle one called “Pilates for Recovery” led by Joleen). I was completely shocked I was able to do everything! Sure, some of my range of motion was restricted so I could maintain proper form (fatigued muscles get super shaky), but I didn’t have to completely sit out anything. Joleen was even impressed at how well I did!
This is a reformer.
The class was fantastic and relatively easy. It gave me a good workout, but in a very gentle and accessible way. I think I’m going to add it into my weekly routine; I’ll have to discuss with Joleen if she thinks I could do that. So, hopefully, I will be doing Pilates Beginner Mat class every other Monday (or two Mondays in a row) alternating with private sessions, then Pilates Reformer for Recovery every Wednesday. I’m also hoping to add back in the biking on Fridays. My body finally seems to be getting stronger and more capable! I’ll keep ya’ll posted of course.
Last night I stumbled upon a post on Pinterest that made me cry. It made me cry because it is fantastic, so it was tears due to a display of true love. It was written by a guy who has been married to his wife for almost 14 years, and his wife suffers from chronic pain. He gets it. He gets it in a way I never thought anyone other than the sufferer could get it. The article gave me a lot of hope: It just takes time and patience but the two of us (Dan and me) will learn to conquer this together.
The article isn’t just for spouses. Really, it isn’t. It has perfect tips for any support person. It works the same if the roles are reversed (husband has chronic pain), if it’s a parent/child relationship (either direction), if you’re the best friend of a single friend, etc. Anyone that has to take a primary, or even secondary, caretaker role can benefit from reading this article.
These diagnoses aren’t new, actually, but I just found out about them. These two new-ish diagnoses are joint hypermobility syndrome (I will often shorten it to JHS) and inappropriate sinus tachycardia (IST).
Joint hypermobility syndrome, which I wrote a little about in the Writing 101 assignment Why Do I Write?. I have always been very flexible, but for some reason having a name makes things make more sense. Dr Spencer thinks it is possible I might have Ehler-Danlos, but the genetic testing is expensive and it wouldn’t change any of my treatments anyway. JHS is a congenital condition that just makes all of my joints extra loose.
Finding Life's Silver Sun 