I’ve been avoiding writing for a little while. It has been a bit of a challenge recently to process what I am thinking and feeling. Last Thursday, I had a follow up appointment with a neurosurgeon that I am still working through, but I don’t want to be too far removed from it to remember well enough to relay it.
Here is a little bit of background: I’ve been experiencing an uptick in symptoms recently. I always have a suboccipital (back of the head at the base of the skull/top of the neck) headache. For me there are two levels of pain. I am in pain but I can function or I am in too much pain to function. Too much pain to function headaches are becoming more frequent. My head feels too heavy for my neck to hold. I have double vision, which is new. My right eye doesn’t focus fully, this is also new. When I move my head from side to side, I can hear and feel the bones at the top of my neck moving. Pre-syncope (almost fainting) is becoming more common. I will stand up and become intensely dizzy, followed by my vision going black. My hearing has changed and my ears ring. My legs buckle from beneath me without warning. I have wide spread numbness and muscle spasms. My bladder is being effected and so is my digestion. This is a small list of some of the symptoms I’ve been experiencing. Most of these symptoms aren’t new, but are worsening in severity.
These symptoms combined together have recently been coined Cervical Medullary Syndrome. Cervical Medullary Syndrome can be associated with cranio-cervical instability. The cranio-cervical junction is the most mobile part of the spine. It is what allows you to turn your head and to look up and down. In many Ehlers Danlos patients, laxity and stretched ligaments also affect our spines, so we are more prone to spinal instability. So basically, I am hypothesizing that I am a bobble-head. My head just doesn’t seem to be screwed on tight enough. Super fun on a dashboard, not super fun on a human.
Craniocervical Instability (CCI) and Atlantoaxial Instability (AAI) are particularly difficult to get a diagnosis for for a few reasons:
- While CCI and AAI are recognized as possible complications with other connective tissue disorders like rheumatoid arthritis, and genetic differences like Down Syndrome, Ehlers Danlos is less understood (read as: having less research and funding) and the guidelines for what constitutes CCI and AAI are a little bit different than they are in the “normal” population.
- Because the guidelines for diagnosing instability in EDS patients differs from those of the general population, radiologist, neurologists and neurosurgeons often don’t know how to evaluate our imaging.
- There are roughly 16 neurosurgeons in the US who are familiar (beyond textbook knowledge) with, and work with Ehlers Danlos patients. These doctors are few and far between and they tend to be difficult to get appointments with. I am lucky. I live in Maryland, which is a hub for EDS research and is densely populated with experts in comparison to other parts of the world. Even so, there is at least 6-8 month waiting period for a consultation with one of these doctors (sometimes the wait is over a year). Many of them do not take insurance and some require payment upfront for appointments and surgery (not including hospital stay). A consultation with the doctor closest to me is $600 and surgery requires a deposit of $5,000 to $10,000 depending on the procedure. So, even without proximity being an issue, these docs are pretty inaccessible depending on your income. Most of us already have a lot of out of pocket medical expenses even without seeing these doctors.
- Ego. It is really hard to find a doctor who is willing to learn. There is a decent amount of research and a few peer reviewed studies (they are small studies) about the neurological manifestations of Ehlers Danlos syndrome. There are not many doctors willing to read, learn from, and accept this newer information. This leads to improper and prolonged waits for diagnosis and treatment.
My appointment with my neurosurgeon was frustrating and emotionally exhausting. There was progress made, and it is likely that I went into it with my hopes and expectations too high- so I’ll take some of the responsibility for the exhaustion.
I’ll start with the good. One of my concerns is a condition called tethered cord. Tethered cord is when the bottom of the spinal cord attaches itself to surrounding tissue instead of moving freely in the spinal canal.
This tethering usually occurs during fetal development, but it can also be the result of trauma. I mentioned tethered cord at my first appointment with my neurosurgeon, as it is a more common condition in EDS patients, especially when Chiari (my brain/skull malformation) is present. I have many of the symptoms associated with this condition. At first, my doctor did not believe that I have tethered cord, and he didn’t see reason to continue looking into it. My MRI looked good to him. I was able to explain my symptoms more fully and pressed him a bit. Tethered cord can’t always be seen on an MRI, and a diagnosis may need to be made based on symptoms rather than imaging. This is called occult tethered cord. The victory here is that he now agrees tethered cord is something we should be further investigating. He has referred me to a urologist because the bladder is often very effected by tethered cord, and my bladder is definitely more active and less effective than it should be. A urologist will better be able to asses if my bladder issue are neurogenic. Does my bladder act like a tethered cord bladder? If yes, then surgery to detach my spinal cord from the wall of my spinal canal could really benefit me.
Also good, this man definitely cares and wants to help me.
The not so good. I was having a really bad day physically. I didn’t have a clear mind or the energy needed to advocate well for myself. Most of the time I was with him, I couldn’t focus my eyes and I was trying very hard not to throw up. I was having muscles spasms throughout my whole body. In one sense, this was good. He got a pretty clear look at many of the symptoms I experience. I felt validated as he told me, “You look really sick right now.” On the flip side, I couldn’t explain my concerns about CCI and AAI effectively. I wasn’t able to utilize the two research papers, and the one hundred+ slide power point presentation, from physicians who work extensively eds patients, I had brought with me to explain why diagnosis in an EDS patient requires more involved measurements and special attention even on a scan that is “normal” during a quick look through. I’m not sure it would have mattered anyway. He believes that many of the surgeons who operate on CCI and AAI in EDS patients are too liberal with their approaches. He doesn’t trust the research being done in this area. He wouldn’t entertain doing the additional measurements required to diagnose these conditions in someone like me. He even mocked me at one point for trusting other patients more than his opinion. I reminded him that I have been symptomatic for EDS and POTS since childhood and had my concerns ignored, minimized and dismissed by medical professionals for twenty+ years. He apologized and became much more understanding, so, that was nice. But he still wouldn’t further evaluate for instability.
Some of my MRI’s come with software that allows me to do measurements myself. I’ve done some extensive research on how to take the measurements that the software allows for. So, I am fairly certain, based on measurements, that this really is an issue for me.
It is frustrating to not be heard and to not be understood, to know what I need but not have the help needed to pursue what will potentially allow me to have the best quality of life possible for me.
It is frustrating that there is a need for me to spend hours reviewing scans and learning how to read them because modern medicine has largely neglected my condition.
If I wanted to be doing this I would have gone to med school.
I want to spend my hours loving my babies, baking cupcakes, and dominating at Kick-the Can like my mama used to.
I am tired.
My doctor believes I have either idiopathic intercranial hypertension (IIH) or aqueductal stenosis. Both of these conditions cause and increase in intracranial pressure. IIH mimics the symptoms of a brain tumor, but no tumor is present. There is no know cause of the increase in pressure. Aqueductal stenosis is a narrowing of the Sylvius aqueduct which blocks or slows the movement of cerebrospinal fluid to the ventricular system.
What my neurosurgeon doesn’t know is that in an EDS patient IIH is indicative of craniocervical instability. So, this is somewhat challenging because until instability is adequately addressed we won’t know if IIH or aqueductal stenosis are actually issues I have, or if the surgery done to correct either of those conditions would useless. Unnecessary brain surgery doesn’t sound like fun time (necessary brain surgery is also not fun, in case you were wondering). So, where do we go from here?
I’ve been able to do some more research, and we have found some hopeful leads who may be able to help me. I’ll be back soon to share some more hopeful moments and small victories I’ve had recently, and to fill you in on the next steps in my journey. That’s all I’ve got for now.
“I hope that you’ll remember
Even when you’re feeling blue
That it’s you I like
It’s you yourself
It’s you I like” -Mr. Rogers