Desensitized to The Diagnosis

Yesterday I got a new diagnosis. But in all honesty, a new diagnosis doesn’t phase me much anymore. When I was 16 I got my first diagnosis, Postural Orthostatic Tachycardia Syndrome (POTS), but I had no idea that 5 years later I would have more diagnoses than I can count on both hands.

In 2016 I was diagnosed with Ehlers Danlos Syndrome, a genetic condition that affects connective tissue and collagen in your body. For me, this diagnosis explained a lot. I had already been diagnosed with Dysautnomia/POTS/NCS as well as Gastroparesis and generalized dysmotility in my colon and intestines. I had been struggling with unexplained chronic joint and nerve pain and I finally had an answer; although EDS wasn’t an easy answer and it meant I will likely never be completely free of illness, I finally had answers.

You probably won’t understand this unless you’re chronically ill, but after receiving that diagnosis, the ones that followed haven’t been surprising to hear or hard to accept. EDS has a lot of co-morbid conditions, and as mine has progressed and as I’ve seen more specialists, I’ve collected a nice array of conditions. Because I know my illness and understand what it can cause, I’m prepared for all of the co-morbid conditions it can bring on.

It’s never good news when I get another diagnosis, but I like to think that a diagnosis simply means we are moving forward towards treatments and answers, it doesn’t actually change anything symptom wise. I’m the same as I was before the diagnosis, I just have more answers and another syndrome/condition on my records. Usually a diagnosis actually brings me more relief because doctors actually start treating a conditions once it has a label and is no longer just unexplained symptoms.

I don’t mean to minimize the severity or seriousness of chronic illness; every illness I have I take very seriously and we treat each to the best of our ability. But after being sick for so, so long and being diagnosed with so many things, there is a desensitization to the process. Maybe it’s a protective mechanism, a coping mechanism, or maybe it’s just because it becomes your life, but just because I’m progressively ill doesn’t mean I have to let each diagnosis set me back.

Ehlers Danlos Syndrome: When Things Went From “Promising” to “Progressive”

I was diagnosed with my first “real” chronic illness at age 16. In reality, I had been having symptoms for a long time, but they had always been passed off as hormonal symptoms, asthma, growing pains, etc. At the start of my junior year of high school I was diagnosed with Dysautonomia/POTS along with three other types of tachycardia and Occipital Neuralgia. I was experiencing severe, daily headaches, chronic fatigue, hypotension, tachycardia, pain, and a myriad of other symptoms. Although the doctors I was seeing did tell me that these illnesses were chronic, they also told me that because of my age and how the illnesses presented there was a high likelihood that I would grow out of them by the time I was in my early 20s. Although I was struggling at the time and had to change many aspects of my lifestyle to cope with these new symptoms, my parents and I had hope that this was only temporary and we would see improvement.

About a year later when I had just started my senior year of high school I was just getting over pneumonia when I started seeing an increase in my fainting and then began having gastrointestinal symptoms. Within a few weeks I went from vomiting once or twice a day to not being able to keep down any of my meals. By November I was taken out of school and placed on homebound due to my inability to attend classes regularly; my state of health was in rapid decline. In December I was admitted to UVA hospital where they were finally able to put a name to what was going on… gastroparesis. My stomach was essentially paralyzed and had stopped being able to process or move food through. At the time they told me it was a chronic condition but that in young people with no other pre-existing conditions it is often post viral and will go into remission or can even go away completely within 9-18 months. They fully expected me to fall into this category and told me that adjusting my diet and taking nausea medication should get me through until this time passed.

Although I did see temporary improvement with my gastroparesis, it obviously did not pass. About a year after my diagnosis I had my second “flare up” and ended up re-hospitalized at UVA and eventually ended up with both a central line and a feeding tube. After seeing multiple specialists including cardiologists, electrophysiologists, motility specialists, neurologists, GI doctors, a psychiatrist, rheumatologists, dysautonomia specialists, and I’m sure I’m missing something, I ended up finding out that my POTS and my GI dysmotility/gastroparesis is likely all caused by a genetic condition called Ehlers Danlos Syndrome (EDS). This diagnosis is what changed the dialogue surrounding my health.

EDS is a group of connective tissue disorders that are passed down genetically and cause a defect in the collagen in our bodies. I have hEDS (previously EDS type 3), which is also known as hypermobile EDS because one of the most distinctive factors is having hypermobile joints (having hypermobile or double jointed joints does not mean you have this condition, so don’t worry!). Because of my collagen defect, my joints are loose and my connective tissue is “stretchy,” leaving me with joints that sublux or pop out of place frequently and are prone to dislocation, skin that is stretchy and bruises and scars easily, and a body that bends and folds in funky ways. EDS also causes me extreme pain almost 24/7, it has caused osteoporosis to develop at age 20, led to chronic nerve pain, and it affects every part of my body down to my eyesight, my hair and nails, and my organs.

For me, EDS is the most likely cause of the autonomic failure that has caused my Dysautonomia as well as the cause of the failure of my GI tract. The tests I had done last fall showed that my entire GI tract is now affected, meaning the paralysis and dysmotility has moved beyond my stomach and into my intestines and my colon. Sadly, EDS is a lifelong condition that has no cure and very few treatments. When I got diagnosed with EDS, doctors stopped talking about growing out of it and starting talking about “comfort” and “symptom management.” The dialogue changed and things got a lot more serious. We have a lot of hope for improvement in my symptoms and my quality of life and we hope every day that someone will discover more answers for me and everyone else who is living with these illnesses, but EDS changed the game for me.

I don’t write this to scare you or ask for pity, I write it because it’s awareness month and I think it’s important to understand that there are illnesses out there that go unnoticed and unfunded and you only hear about it when it hits someone close to you. Heck, I had no idea what gastroparesis, POTS, or EDS was until I got diagnosed, but now my life is literally forever changed by them and even I don’t have answers. Doctors don’t have answers. So I write, I share what I do know, and I hope that maybe the next girl will find out a little sooner or find the right doctors a little faster. Awareness is important, so thank you for reading and thank you for sharing!