I'll give you the easy version of it. Ehlers-Danlos is a genetic disease. I likely inherited it from my family and I have passed it on to my children. We have a 50% chance of passing it to each child that we have. Only one of mine is diagnosed so far. I believe that at least two more have it. The last, I'm not so sure of. Ehlers is a connective tissue disease. This means that it affects any or all of the connective tissue throughout our bodies. Your skin, ligaments, blood vessels, gastric system, parts of the heart and a few other things are made of connective tissue. Ehlers presents differently in everyone. For my daughter, it caused multiple dislocations of her knees at first. Now, she dislocates most everything...hips, shoulders, ribs, wrist, knees. Have you saw a ball player fall on TV and tear a ligament, an ACL or something? You know how that hurts him? Well, imagine being a teenager girl that does that on a regular basis. For me, it was just a general clumsiness. With my second pregnancy it because horrible hip and back pain, complete leg numbness. It was very fast births or premature births. It was arthritis that made my knees weak in my early 20s. And then in my mid 30s it became an odd set of neurological symptoms.
And, with that, I'll introduce you to Chiari malformation and how it showed up in our lives. A couple of years ago, around the time I was diagnosed with EDS, I began having neuro symptoms. One weekend the right side of my face stopped working (it is still weak). They called it Bell's Palsy. I developed tremors. My lifelong migraines started getting worse and more frequent. I started to have trouble talking, difficulty getting my words out. And I was having moments of dizziness, stumbling. Once I knew about EDS, I started looking online, trying to see if these other things fit with it somehow. And I stumbled onto info about Chiari. Chiari, as previously explained, simply means that the hole in the bottom of your skull is made a little bit wrong and your brain is slipping through it. This terrified me. I spoke to one of the geneticist at Cincinnati. She didn't think anything was wrong with my brain but she did order an MRI. She thought that I just consumed too much caffeine. Yea, I wish it was so simple. A couple of weeks later I had my MRI, took the disc home and began comparing it to other pictures that I found of chiari. I had it, too. I began the hunt for doctors. Let me tell you, when you have this collection of rare disorders, it is very difficult to find a doctor who will treat you. They tend to lack understanding, compassion or even an open mind to consider these diagnosis. I tried and fired a few doctors. Most blamed everything I had on being fat. Fat is apparently such a disease in their eyes that it is the cause of everything, even brain deformities. Over time, I was becoming more and more sick. My daily pain level was through the roof. And, I was still trying hard to work. Paul and I eventually found Dr. Fraser Henderson, my neurosurgeon in Maryland. We made one trip out there and just loved him. He believed me. He did a real neuro test on me, and I failed it miserably. He ordered multiple scans and looked them over. I left my first visit with him with a long list of new and surprising diagnosis. I was told that I had a 6mm chiari herniation, possible cervical instability, tethered cord, occult spina bifida, possible TIAs, and a few smaller things. I was sad. I saw the end of a career in my future. I saw changes. I've always tried to be strong and knew this was going to be hard. But, there was relief in knowing.
From there, we landed on this path we are on. I went down hill pretty quickly. I became a lot more sick. I began having surgeries with Dr Henderson to repair some of the things wrong with me. And, I still have more surgeries to go. But, we are trying hard to make me better. We are trying to fix me, to keep me alive, to put me together enough that I can go back to working, that I can begin a new career as a Nurse Practitioner, eventually.
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