Reading articles like this one about a young woman battling Ehlers Danlos Syndrome gives me hope that one day I will not need to explain so much about my condition. I try to avoid dwelling on the challenges of Ehlers Danlos Syndrome. I use so much energy to function, to maintain a sense of normalcy and balance in my life, that these explanations can feel like I’m repeating myself, or talking too much about this shadow I refuse to have as part of my day. If you or a loved one do not suffer from EDS, chances are you do not know what we live with. Even within our community there is a wide spectrum of severity. Our daily struggle can be invisible, often requiring regular explanation at the individual level to function in daily society, and on a larger scale to raise awareness outside of our community. This is a genetic disorder and each of us has a responsibility to share our experience, to provide encouragement and a path forward for the next generation. Even though my thoughts become tangled, due to the disorder and at its complexity, I need to untangle them. I need to keep finding my voice and raising it. "When 'I' is replaced by 'we', even 'illness' becomes 'wellness'." - Sushan Sharma
In late September Rob & I went to Maryland for a week. This wasn’t just a harbor vacation of boat tours and crab cakes, although we had plenty of both. This was the end of an eight-month wait for an appointment with a top neurosurgeon specializing in Ehlers Danlos Syndrome.
Prior to this appointment, I was ordered to undergo dynamic MRI and CT scans which I completed with my primary doctor in June. Instead of lying down, a dynamic MRI is done upright and shows the effect of gravity on your body as you would be sitting, standing and walking each day. A pumpkin on a stick may appear stable lying down, but upright it tells another story. He also requested scans of my head and neck bent in forward in flexion (as I would be when reading or on my phone, working at my desk etc.) and backward in extension, as far as it would go. I repeated this forward flexion in a dynamic CT scan, and another two with my head turned 90 degrees to the left and right.
It was clear from the images that there was a problem. I do not know which is worse, waiting for an explanation of what is wrong, waiting for the solution, or wondering how much resolution it will bring. I am very good at convincing myself that things are not that bad, that I am fine. I am not fine, and have not been fine for a long time. I became a pro at faking it outside of my immediate family. Work is a wonderful distraction that makes me feel useful and valued.
The neurosurgeon I went to see has extensive experience with the EDS population. He apologized for the prolonged waiting period. and within a very short amount of time had caught a few things others had missed. He read my upright MRI and based on what he saw, he told me what my symptoms were. He explained that the high degree of angulation in my neck is straining nerves along my cervical spine, and that fusing these vertebrae could relieve 80-100% of the symptoms I have been struggling with. He strongly feels we have a path forward. He has treated over 1,000 individuals with Ehlers Danlos Syndrome.
When we put our heads forward normally there should only be 11 degrees of flexion between each vertebra with anything over 11.5 degrees considered pathological . Due to the weakness in our connective tissue there is extra stretch and flexibility and in my case, I have 15 degrees at more than one level. The extra stretch causes C4 and C5 to sublux (to partially dislocate). The extra degrees of angulation adds additional strain on the spinal cord causing cervical myelopathy which causes stretch damage to the nerves communicating the messages from the brain to the spine in turn to the body.
White and Panjab criteria
"The eyes cannot see what the mind does not know." Many doctors are unaware of Ehlers Danlos Syndrome and the complications that come with it. The standard test for head and neck issues would be a supine MRI, which in my case appeared relatively normal. When someone has faulty connective tissue a dynamic MRI yields very different results. The muscles, ligaments, bones and tendons which hold up the head are not as strong and move differently against gravity. This is why it took so long to find an answer and why learning I had Ehlers Danlos Syndrome, a connective tissue disorder was key to getting myself on the accurate path for answers. The following PubMed paper explains: http://www.ncbi.nlm.nih.gov/pubmed/18074684
Part of what helps me to cope with what I am dealing with is to raise awareness with my own doctors. I booked a follow up appointment with each doctor who stayed part of my team, taking my new results, and copies of the MRI & CT to share what I learned and show the difference that the dynamic scans made. Going back gives me hope we can help the next individual who doesn’t fit in the standard box but that they still believe has something going on.
These are the compassionate doctors I have had. The ones who were brave enough to say "I do not know, but I will help you find out" or "we will work together". In many ways I feel like this is their solution too. If they had reservation, I would have reservation. We have looked at this from so many different angles aggressively over the past four years.
While I am terrified, I am moving forward anyway. If I left things as they are I risk injury to my spine or irreversible damage to spinal nerves. As it stands today, there is no cure for Ehlers Danlos Syndrome, for the weakness of my connective tissues that led to the degeneration in my cervical spine, and causes the hypermobility I experience throughout my body. I can take action to stabilize the worst area of my spine with this fusion, and with physical therapy, hope to strengthen the muscles in my neck to prevent further degeneration at additional levels. The Neurosurgeon will fuse C4-C5-C6 with cadaver bone, titanium plate & screws. If you have EDS, it is important that you use someone familiar with the disorder and its complications to do this procedure. I am continually reminding myself that I am working right up to surgery which puts me in a very small group. I have to trust that my quality of life is going to improve. I have good odds. I have the best Neurosurgeon.
I look forward to the day when there are more medical professionals like the ones on my team, who did not stop when faced with a puzzle not easily answered. Who say "you may never know for certain" yet work like hell to find you an answer that can improve your quality of life. Who don’t close their eyes to rare disorder and the possibility of new variants, or dismiss the individuals who are suffering daily while striving to make the most out of what they have.
The Cosmo article about one of the young ladies from our support makes me wonder if this could be a bit closer than I thought. It means people are listening and compassionate.