Diagnosis: Ehlers-Danlos Syndrome type 9 (Occipital Horn Syndrome)
February 21, 2018
My Life with Rare Disease
My name is Randy Wellbaum, and I was recently diagnosed with some very rare health conditions. As a child, I would run around and play with other friends completely unaware of any potentially limiting health concerns. Eventually, I started to feel pain develop in my ankles and spine. I thought that this pain was normal achiness that everyone deals with, so I tried to not draw attention to my discomfort. The term “normal” is so subjective, and I viewed my usual experience as being the normal experience. I remember standing up from my desk while in the sixth grade and immediately collapsing back into my desk with tears rushing down my face. For the first time in my life, I was willing to admit that the excruciating pain I was experiencing was not normal, and it finally warranted some medical attention.
We went in to see the podiatrist. He did multiple X-ray’s of my left foot and ankle. When he returned to the room, he declared “It’s no wonder you’re in so much pain. You have multiple fractures and broken bones!” The doctor then explained two medical terms: epiphysitis, and apophysitis. He then combined them saying I have epiphapophysitis. Essentially, the normal way people build muscle is through a series of tearing and rebuilding, but I was so flexible that no tear or rebuild was happening, leading to overall weakness of the anatomical structure. Everything was loose and disjointed, and the muscles, ligaments, and tendons, were all working against each other. This caused my bones to literally break themselves apart. We then put my left ankle in a cast and I was on crutches. A few weeks passed, and my right ankle, which had been bearing all the weight, was exhibiting the same concerns as the left ankle. We couldn’t keep alternating casts, so we put me in two ankle braces and I was instructed to stay off my feet as much as possible. This allowed the feet and ankles to heal, but further separated me from the activities my fellow classmates were participating in. I started attending physical therapy for my ankles and spine every week, which seemed to slow down the degeneration and provided some pain relief. Around this time, we also got a diagnosis of scoliosis and Scheuermann’s disease, both dealing with deformities in my spine. I also was diagnosed with asthma and allergies. The problem with all these diagnoses was that they neglected to explain the actual underlying cause of all these health challenges.
We didn’t fully understand the extent of my physical health challenges in high school, but I knew my body was working against me. I had multiple fractures and broken bones in my feet and ankles because they were breaking themselves apart. I was dealing with extreme back and neck pain. I had asthma and allergies as well. I remember having to run the mile in gym class. I was always in last place. The tears would be streaming down my face because of the pain I felt in my ankles. I remember my vision going greyscale, feeling dizzy, and being unable to fully catch my breath. I always tasted blood when participating in physical activity. That’s how I always felt when exercising though, so I thought it was “normal” and I just wasn’t tough enough to deal with athletics. No one else understood what was going on with me either, not even my own doctors or family. I slowly watched as my so-called friends left me on the sidelines. I felt disowned by them and was completely alone. As bad as the physical health challenges were, they didn’t begin to compare with my emotional distress and mental health challenges. I was diagnosed with OCD, ADHD, anxiety, and depression. The details surrounding my mental health concerns do not require an in-depth discussion. It is enough to say that I had hit rock bottom, had given up on life, and had even made 3 suicide attempts. What finally helped turn all this around? A lot had to change. Medication played a huge part, as did counseling. I also found joy through my involvement with music. I sang in choirs, musicals, and operas. Finally, I found a niche my own health wasn’t preventing me from enjoying.
I served an LDS Mission, and ended up contracting the dreaded Swine flu! I had an extremely high fever over 104 degrees for almost two weeks straight. The doctors decided to quarantine me. I stayed in bed and slept nearly 20 hours a day, just trying to hold on for dear life. Eventually, I started to improve, but my health was never the same after that. We now know I had a compromised immune system. Across the next year and a half, I was on 21 different antibiotics for what the doctors thought was chronic bronchitis. I also developed tremors because of nervous system damage, and I even developed internal bleeding problems and gastrointestinal concerns. At least my ankles stayed strong until the last 3 weeks of my mission. Once I returned home, modern medicine had advanced enough to where a series of ankle surgeries had been devised to hopefully provide a long-term solution to the broken feet and ankles. Thankfully, the 10 surgeries on my ankles have indeed helped tremendously.
When most people are facing major ankle surgeries, they ask questions such as “Will I ever be able to run again?” I had nothing to lose. I only had hope that perhaps I could finally walk without having excruciating pain. The recovery time was about 6 months on each foot, but now these feet have done far more that just walking. They have carried me across the world to visit and perform in 10 different countries, allowing me to do things I would have never thought possible.
Around the same time as my initial ankle surgeries, I had a corrective jaw surgery. This required me to be on a liquid diet for several weeks. Thankfully, I had gained 90 pounds on my mission, so I could afford the 70 pounds I lost during recovery. I also underwent several minimally invasive spinal procedures to attempt to reduce the back pain that I experience continually. Unfortunately, these surgeries were ineffective, and I even stopped breathing for nearly three minutes while recovering from one procedure. To my surprise, I awoke to 20 medical professionals surrounding me in my small recovery room. I felt like I had just enjoyed the best nap ever. Only later did I recognize the bruises on my chest from their efforts of reviving me.
My next major medical event occurred about one year later. I woke up in the middle of the night with severe abdominal pain. We rushed me to the hospital emergency room to try to figure out what was happening. Once admitted to the hospital, we immediately started the preparation process for the fifth colonoscopy and third endoscopy in my young life. This time, I couldn’t keep anything down, so we had to run a tube up my nose and down into my stomach to administer the preparation fluid. After the colonoscopy, we learned that the left vertical column of my colon had gone ischemic (organ failure, typically due to lack of blood flow or oxygen supply). I was in the hospital for a week, and thankfully enough of the organ remained functioning that we were able to avoid any surgeries. Well, it turns out that being in the hospital for a week is kind of expensive. Since we had hit our maximum out of pocket expense, I chose to meet with a neurosurgeon to finally address my spinal problems. My neurosurgeon finally put together all the pieces that previous doctors had been unable to connect. They felt the ankle problems, back problems, and colon failure problems were all connected. They suggested I explore getting a diagnosis of Ehlers-Danlos Syndrome, which is a connective tissue disorder. The diagnostic journey included making two trips to the Mayo Clinic in Rochester, Minnesota, getting upright MRI’s in Denver, Colorado, and having genetic testing completed through the University of Washington and a genetics laboratory based in San Francisco, California. We finally got some answers. I tested positive for Ehlers-Danlos Syndrome (Hypermobile Type), and a genetic mutation of the ATP7A1 gene (Connected to EDS Type 9, Occipital Horn Syndrome) which also provided more answers, and more questions. Across the next several months I also tested positive for Mast Cell Activation Disorder and Postural Orthostatic Tachycardia Syndrome. We finally have valid medical explanations for why my body is the way it is.
Ehlers-Danlos Syndrome is a genetic condition where my body does not process collagen protein correctly. Unfortunately, the human body is made up of over 80% collagen protein, leading to potential concerns virtually anywhere in the body. Collagen processing and transportation issues can cause a weakening of the connective tissues, which can make my bones break themselves apart. Additionally, the vital organs of my body are at risk of rupturing or just simply shutting down. While it is good to finally have answers, it also weighs on me emotionally. I often feel like I am a burden on others and have nothing good to offer. Whereas the condition is degenerative, it is hard to remain optimistic about the future. I know I will have a lifetime of surgeries and pain to deal with. Perhaps the silver lining is the shortened life expectancy predicted by some doctors.
This year I will likely have to travel to Virginia to meet with a specialist for a cranial axial skull base surgery, and possibly to have a supportive metal rod placed along the length of my spine. Currently, the spinal column is gradually collapsing onto itself, and the cranial axial angle is pinching the spinal cord. My heart’s mitral valve is also leaking, which we continue to monitor. I even have some vocal health concerns, since the vocal folds are made of connective tissues and collagen protein. We know I will have to have both shoulder joints, hips, and knees replaced, but hopefully most can wait for a few more years. Currently I have a collection of supportive braces to use when necessary. I have 21 ring splints for my fingers, which prevent them from hyper-extending and dislocating. I also have wrist braces, elbow braces, shoulder braces, a rigid neck brace, a corset style back brace, hip braces, knee braces, and ankle braces. I frequently have various joints subluxate or dislocate (at least I’m pretty good at putting things back in place again). My braces are one of the only visible representations of my invisible illness. I don’t wear my braces too often since they further weaken my connective tissues. I utilize my disabled parking pass on bad days, because it is hard to walk long distances, especially when dislocations occur. Virtually every physical movement creates pain in some way, but I can’t just stop living. Thankfully, I have a very high pain tolerance, which allows me to get through the demands of most days. I currently take 32 pills each day just to function. I get by most days without narcotics, but I know that is not always a possibility for others with chronic pain. I had 32 medical appointments last month alone. It is a challenge to balance being a full-time student while my doctors also expect me to be a full-time patient. It has been quite the journey discovering which doctors can help me, and unfortunately, learning which doctors only pretend to have answers. I am grateful for my current medical team that is willing to learn all they can about my specific medical conditions.
My life has changed significantly since I received my official diagnosis. No one is guaranteed a tomorrow. Anyone’s last day could be any day, but we don’t just stop living our lives because of that. I do have to be practical as I plan my future. I was previously double majoring in Physical Therapy and Music: Choral Education. I had to drop my major in Physical Therapy because down the road I will not be able to meet the physical demands of the occupation. I will hopefully be completing my degree in Music: Choral Education in the next year. A recent problem has been my shoulder subluxations while directing. Due to this, I question my ability to direct choirs all day every day. If my health remains stable, I’d like to get a Doctorate in Arts Administration. I will always direct choirs because that is what I love, but it will be best if my whole livelihood doesn’t depend upon my ability to wave my arm. My wife and I must also rethink our plans as a family. Our little third floor apartment has not been ideal, especially with my ankle surgeries. Our future dream home now must be a small single level house. Our plans for having children in the future have also become more complicated, knowing that I have a rare and terminal genetic condition that may be passed down to future generations. Modern medicine makes advances daily, so I refuse to give up on all my hopes and dreams.
Currently there is no treatment or cure for Ehlers-Danlos Syndrome. The hypermobile type of EDS is thought to be as common as 1 in 5,000. EDS Type 9, now known as Occipital Horn Syndrome is thought to occur less than one in a million, with only 20 confirmed cases in the history of the world. As an individual with rare disease, I must be my own advocate. I must be willing to acknowledge that specialists do not have all the answers. We continue to try several different options for treating symptoms and slowing the progression of the disorder with some success, but ultimately a cure will only take place once scientists learn how to alter the human genome. Perhaps a cure will be found someday, and that is why I must continue to have hope for a brighter future.