Emilie's call for a cure

Help us fight for a cure for Emilie and others just like her

I am raising awareness and funds for The Ehlers-Danlos Society. My name is Emilie Kircher and I just turned 13 years old at the end of the summer. I am in the 8th grade and while I really enjoy athletics and running, I am unable to participate in many of the things I have always wanted to do, or have had to quit. I used to be a gymnast and a ballerina, but had to quit before I really got a chance to show the world what I loved. I was born with Ehlers Danlos Syndrome: Type 1. I was first diagnosed at the Mayo Clinic when I was three years old. My mom began to become very concerned after we began mommy and me classes at my local gym. I absolutely loved gymnastics and I always wanted to go and play at the toddler gym. When I left I would cry and complain to my mom about my legs and shoulders hurting. Since she was also born with Ehlers Danlos Syndrome, she knew that I had a 50% chance of inheriting this disease from her. She began to worry and then begged my pediatrician to advocate for our family being seen by the genetic department at the Mayo Clinic. We were so grateful to be able to go to the Mayo clinic and speak to their doctors. After a thorough assessment and the best tools available at the time, it was confirmed that I, too, suffer from EDS. My mom was educated (although most of what she was told, she was already familiar with) about what would likely be happening at the various developmental stages in my life.

When I turned 12, my symptoms really began to spiral out of control. Puberty often is a trigger for an increase in symptoms, because of how much the body is changing. I began to have complex heart symptoms, which affected my ability to regulate my body temperature, my heart rate and my blood pressure. I started to become very disoriented and dizzy, which would cause me to fall and hurt myself even more. I began to have problems keeping my joints in place, since EDS is a disorder involving the collagen throughout the body. Since joints, muscles, tendons, and vessels are held together by collagen, every single area in my body can be dramatically impacted by my body's inability to make the right kind of "glue" to help keep me functional and safe. Not only was my nervous system having trouble regulating itself, I wasn't able to control what my joints were doing. When the kids around me were running around during recess, I had to make the tough choice to join them and then feel incredible pain, or sit out and watch all of my friends chasing each other around as they laughed and played without too much worry.

I have been very fortunate to have family members who love me, support me and a mom who also has this disease. It makes this less lonely, less isolating and gives me someone I can go and talk to whenever I need help or just need to share my feelings with. My mom takes me seriously, is always willing to talk to my doctors and both of my parents never question my symptoms or my perception of the pain I am feeling. I am lucky to have a set of doctors who advocate for proper treatment and if they don't know how to help me, they make sure to send me to someone who does.

I am currently receiving treatment to help regulate my blood pressure and my heart rate. I go to a physical therapist three times a week to help manage my joints, which often pop out of place. Physical therapy helps stabilize my joints by making the muscle strong, since the joints are not able to be supported by the tendons and ligaments due to the faulty collagen holding them in place. I also get to do yoga with my mom, which also helps my nervous system restart and also helps make my muscles be strong enough to support my joints.

But, my journey is far from over and I need YOUR help. Even though I am lucky enough to have a panel of doctors familiar with Ehlers Danlos Syndrome and help me along my journey, there is still the fact that there is NO CURE for this syndrome. I would like to help benefit the Ehlers Danlos Foundation by raising funds to help those less fortunate than me to be able to receive proper diagnosis and care for EDS, since it still remains a rare disease.

In the last year, two very popular TV and music personalities have publicly announced their fight and journey with EDS, which have helped raise more public awareness of this silent disease. I want to get my story out, because I want to also help those around the world be able to have the kind of support I receive from my family and the doctors who are helping me.

Together, even a small amount can make a huge difference! The Ehlers-Danlos syndromes (EDS) are a group of 14 heritable connective tissue disorders that produce a spectrum of complex problems across multiple systems of the body. Hallmark symptoms across all types are hypermobile joints, skin hyperextensibility, & tissue fragility. Each case is unique and severity may range dramatically, even within families.

The Ehlers-Danlos Society is a global community dedicated to saving & improving the lives of those affected by the Ehlers-Danlos syndromes, hypermobility spectrum disorders, & related conditions. Our goal is world-wide awareness and better quality of life for all who suffer from these conditions, regardless of geography.

Please support me, and together we will overcome!