A Long Journey to Diagnosis: Ehlers-Danlos Syndrome
Now, when I think back to that day – the day that everything changed – I start to cry. My “normal“ was over. My life became the worst nightmare I could have ever imagined. One medical treatment, which almost killed me, changed my life forever, and there was no way back. I started to develop symptoms which were all related to a highly unstable cervical spine caused by my lifelong but unrecognized connective tissue disorder, Ehlers-Danlos Syndrome. My symptoms were mostly neurological, all related to a cervical spine instability like dizziness, blurred vision, nausea, balancing problems, vertigo, weakness of legs and arms, muscle weakness, loss of concentration and many, many more.
After the onset of my disease I was not even able to go for a walk or care for my own needs. I had to sleep and lie down most of the time and could only think about how I was playing Volleyball just one week ago. I was scared to death about what was going on with my body and what happened to me. Over the years, and still undiagnosed, I thought I would lose my mind. I went from doctor to doctor and nobody ever believed me. It was like my disease did not exist. There were many misdiagnoses especially psychological ones. After three years of trying to fight my way back into life, I pretty much lost everything I have always been so proud of.
Due to my disability my job was gone, my apartment was gone, my health was gone, I gained a lot of weight and finally my boyfriend broke up with me. At this point I did not even cry anymore because of all the tears I shed before. There was no solution, no goal, nothing I could do to fix this, and nothing left of the naive young woman I have been before. I fell in a deep hole and thought I had lost myself forever. For years I did what my doctors said, I tried to build muscles, I did every physical therapy I could find, but nothing changed, it became even worse. In the end I could barely stand on my feet. Because of the hard exercises, I developed more and more instabilities all over my body. My knees, my shoulder, my jaws and iliosacral joints became very bad and I could not walk or stand on my feet for more than five minutes. I felt like I would break into two pieces. I hated to see myself like this! I never gave up and I never lost hope, but this situation – not to know why you are sick and not to have someone working to solve the mystery – made me feel like I did not have a chance to fight for my life. And then at the darkest point of my life, out of nowhere, I found my soon to be husband. We knew each other for a long time and did not even like one another. But I had changed. He gave me the energy to start fighting again, to believe in myself and to find the strength I needed so urgently. If I wanted to be with him, I had to find a way to get better. After exactly four years of being very sick, we travelled together to another continent for doctors’ appointments.
On that trip, I finally got my life saving diagnosis from a world renoun specialist neurosurgeon. This day changed everything! The diagnosis literally pushed me back into being myself again for the first time after so many years. Now I could actually do something. There was hope for the first time in years and there was a chance of getting better. I still have a chronic disease, and there will be always bad times. It will probably progress, and I will never be “normal” again, but I got my life back in the moment that I knew what my mysterious disease was. I could finally let my old life go and start with a new life.
Now, together with my fiancé, I have made it my life goal to help other people with the same debilitating disorder. I am working as hard as I can on raising awareness and telling my personal story to everyone who wants to know it. I am still living with chronic illness, but now in a different, more positive way. I am 29 years old, very sick, but the happiest I could have ever thought of. Along with the Ehlers-Danlos Syndrome diagnosis, they found a couple of comorbidities that contribute to my overall condition. There is the postural orthostatic tachycardia syndrome (POTS), mast cell activation syndrome (MCAS), hashimoto and so on.
I went from “it is all in your head,“ to a couple of chronic disabling conditions in just 12 months. But I will fight this. I will go through this. I will not stop laughing and I will be stronger in the end.
Karina’s story is also featured, along with many other patient stories, in the book: Our Stories of Strength: Living with Ehlers-Danlos Syndrome.