Getting Used to a New Normal...
My son and I were recently diagnosed with a rare, incurable, and degenerative condition called Ehlers-Danlos Syndrome, and I've found myself without much time to sit down and think about what I wanted to write to help bring awareness to this rare (or at least rarely diagnosed) genetic condition.
First, let me start by saying that, broadly, Ehlers-Danlos Syndrome (EDS) is a group of inherited connective tissue disorders that impacts skin, joints, blood vessel walls, the digestive system, and basically most every other part of the body as well. The defining characteristic of all types of Ehlers-Danlos Syndrome is a genetic defect in how our bodies produce and repair collagen. Which, before knowing what I know now, wouldn't have sounded like that big of a deal really, but it turns out, hearty collagen is super important to basically everything in your body.
Collagen is found everywhere in the body, and therefore, nearly every system of the body is impacted in some way. And because of the wide variety of systems that are impacted, no two people with EDS have exactly the same symptoms, making the syndrome incredibly hard to diagnose. The average amount of time for a person to be diagnosed with EDS from the time they first begin discussing the seemingly unrelated symptoms with their doctor(s) is twelve years. Let me repeat; TWELVE YEARS. I've been lucky in that way. While I've had many (many!) years of odd and uncomfortable symptoms, from the time my health started to nosedive a little more drastically to the time I was diagnosed was less than a year. So in that respect, I feel very fortunate. I certainly went through many years though where I was essentially told that there was nothing wrong with me, or that perhaps I was just tired because I was a mom (*insert giant eye roll cuz overt sexism*). Having a diagnosis now at least allows me to plan, as best I can, and it also allowed Ben to be diagnosed more quickly than he might otherwise have been because Ehlers-Danlos often has a dominant inheritance pattern (depending on the sub-type - more on that below).
There are currently 13 known sub-types of EDS. Ben and I have been diagnosed with the most common sub-type; EDS Hypermobility type (or hEDS). Common symptoms of this particular sub-type of EDS include extreme joint hypermobility (and here I thought being flexible was a good thing), chronic joint pain, chronic fatigue, frequent dislocations and partial dislocations, easy scarring, easy skin tearing, poor wound healing, digestive issues (I'll leave that broad, but it's rough), and a whole host of other things, including comorbidities such as Mast Cell Activation Syndrome and Postural Orthostatic Tachychardia Syndrome (which is super fun, let me tell you).
Now for the bad news. This is a genetic condition. There is no cure (no seriously). Taking collagen supplements won't help because my body will always produce faulty collagen no matter how many good building blocks I give it. Eating a different diet might be good for me, but it won't cure EDS. Exercising, in some cases, can be downright harmful, so Ben and I have to be very careful how we get in physical activity, and really listen to our bodies. More bad news... This is a degenerative condition. While no two individuals with EDS have the same journey, it's not being negative or overly pessimistic to say that, over time, my health (and unfortunately Ben’s too) will continue to get worse. My best hope is to use the best practices currently available (physical therapy, occupational therapy, regular massage, regular low to no impact exercise, knowing my limitations with physical activity, etc.) to slow the decline as much as possible, and do what I can to maintain as good of a quality of life as I can, for as long as I can. I'm really working hard on it (which in and of itself is exhausting).
I don't say any of this to get sympathy, and DEFINITELY don't mistake this for an invitation to give me suggestions on what herbs we should be taking (my treatment plan is something my doctors and I work hard on together, and I'm not inviting anyone else to the party), but I want to spread the word about this rare and often misunderstood condition, because the more I learn about EDS, the more I think it's not quite as rare as it seems, and it could be just that it's rarely diagnosed. Awareness is key to more research, and better outcomes for those of us living with EDS.
If you'd like to learn more about EDS, here are some excellent resources:
Hands-down, THE best explanation of EDS I've found that's in plain language. This is something I've sent family and friends to help them get a better understanding of what EDS is and the impact that it has: https://slingsandarrowsofoutrageousfortune.wordpress.com/eds101/
The Ehlers-Danlos Society, which provides a wealth of resources for both patients and their doctors and other providers: https://www.ehlers-danlos.com/awareness-2018/
The Facebook support group. Which I know sounds weird, but let me tell you, there are SOOOOO many weird things that happen to your body when you have EDS that it can be immensely helpful to talk with folks who really get what you're going through: https://www.facebook.com/groups/152615741473177/
If this is something you too are living with, just know that there are people out there going through the same thing. Find those people, because we help each other get through the really tough days. If a loved one of yours has EDS, do everything you can to educate yourself about this condition, so that you can be a loving support for them, and make sure you have someone to talk with as well!
And lastly, if you've made it to the end, thank you. This is a tough journey to be on, and the more awareness we can raise, the better. Please share, and get the word out, both in Ehlers-Danlos Syndrome Awareness Month, and any month of the year.
--Sam
