It is Rare Disease Day so obviously I am jumping on this moment to raise awareness. I have Ehlers-Danlos Syndrome and a rare type, called cardiac-valvular EDS or cvEDS.
Hypermobility is very common with EDS. There are many, many other health issues that fall under the umbrella due to this collagen defect. Imagine your joints are like rubber, frequently popping out of place from even just a hug or rolling over in bed. Sometimes these joints stay out of place or wear down. It is a painful disease to many.
This does not only affect joints but can also affect your organs.
We are all different and we call ourselves Zebras because in the medical field, doctors and nurses are trained that when they hear hooves to look for horses not zebras. This mentality has caused me to go undiagnosed and medically neglected for my entire life, up until I had genetic testing last year. Despite my heart issues and frequent ER visits, being young and seemingly healthy has had me labeled as drug seeking or having anxiety attacks.
The reason why is because EDS and dysautonomia (dysfunction of the autonomic nervous system) does not show up on routine blood work. I have never done drugs, besides cannabis, and even after open heart surgery and a broken sternum I did not even finish my pain meds prescription. I have been treated as if I were an IV drug user, because in my area that is the only reason someone of my age would have this extent of damage to their heart. I am so incredibly thankful to now be taken seriously with a diagnosis, but it is bittersweet because this syndrome is progressive and for me, my heart is always at risk. In my recent echo, I have developed a dilated aortic root. This is beyond scary to me because EDS, especially cvEDS comes with aneurisms. Dealing with this type of diagnosis as well as chronic pain and illness is mentally exhausting.
I am passionate about awareness is because it took so fucking long to be heard. I suffered for so long not taking proper care of myself and not knowing the correct treatments. I have been called a hypochondriac by exes and have hidden behind a mask for years. I want others to know they are not alone and I want medical professionals to see us.
2 thoughts on “Rare Disease Day”
I have been told my palpitations and chest pains are anxiety for years. I have had more EKGs done than I can count. About 6 -7 years ago, I was at work; had the worst chest pain, blacked out and ended up in the ER. I had an entire cardio work up done. Stress test and all( I thought I was going to die) and nothing! “ everything checks out. Must have been a pretty bad anxiety attack”. My oxygen was low; it took forever for it to come up. And of course they didnt catch anything on my EKG. I have worn holtor Monitors for 24 hours; nothing. I just got insurance back so my dr wants me to wear one for 30 days because I wake up at least 4-5 times a week with my heart feeling like a fish out of water flopping around in there. And I’ve noticed it is worse when I lay on my left side. It’s so frustrating!!
Have you done a Tilt Table Test?