Celebrating Good Health: My Recent Diagnosis and Life Changing Surgery

 It is with great happiness that I announce my health has improved considerably since my last post. This is the result of finally receiving an accurate diagnosis, surgery, and treatment for my ailments.

I was diagnosed with Joint Hypermobility Syndrome (JHS), a genetic condition whose name encapsulates the large group of as of yet undiscovered connective tissue disorders that fall outside of the Ehlers Danlos Syndrome (EDS) definitions.

Connective tissue disorders cause problems in collagen, which is present in most of (if not all) the organs in the human body. This, as you can imagine, causes a fairly wide array of problems.

For me this disorder manifests itself as a tall, narrow stature, long fingers that effortlessly twist themselves into unnaturally acrobatic positions, a shoulder that partially slips out from it's socket at inconvenient times, dysfunction of my autonomic nervous system, and velvety-soft abnormally-stretchy skin. The most disabling and dangerous of it's effects on me, however, were those associated with the increased laxity of the ligaments holding my spine together.

The structural integrity of most people's spines will never be compromised unless they are in a traumatic car accident or similar event. In those cases whiplash stretches the ligaments in the spine past what is natural and as a result the spine becomes dangerously loose. For myself, however, no precipitating event was necessary for my spine to start falling apart. Without my knowledge, my imperfect genes had inserted a glitch into the fabric of my body that made my eventual disability a foregone conclusion.

I'll spare my readers most of the details of my diagnosis process and instead provide a brief summary. I started seriously looking for answers at the age of 18 after I had just started college. The long process included the consultation of tens of doctors who practiced within the obscurity of hard-to-pronounce disciplines.

As my disease progressed there were glimmers of false hope in the form of incidental findings, like the discovery that I was in the early stages of venous thoracic outlet syndrome. There were also crushing blows delivered through the accusations of my supposed untruthfulness and exaggeration of my illness. I was even at one point diagnosed with a psychiatric condition known as conversion disorder.

Many of you who have combed through the troves of genealogical information available in ancestral medical records may recognize this disorder by another name. Many of our female predecessors were diagnosed with this same condition which before 1980 was called "hysteria". Given that the disorder's name was derived from the Greek root word "hystera", meaning uterus, it shouldn't come as a surprise that even in the modern age the disorder is diagnosed at a rate 2-5x higher in women than it is in men. It also shouldn't come as a surprise that it is often used as a way to dismiss mysterious neurological disorders in women.

Of course the accusation that I was suffering from conversion disorder was without merit. In reality it was found that rotation of my spine caused a visible, abnormal, horizontal deviation of my facet joints from one another. Basically my spine was partially dislocating every time I turned my head.

3d CT Scan showing my unstable spine

The condition was called atlantoaxial instability with cranial cervical instability. Additionally doctors found that my brain was sinking into my spinal canal, a condition called a Chiari Malformation. And, since obviously that wasn't enough for me to deal with, I was also diagnosed with a condition called Postural Orthostatic Tachycardia Syndrome (POTS).

All of these diagnosis came right in the middle of the COVID-19 pandemic further complicating the treatment. Luckily (or unluckily) my surgery was considered urgent and necessary. My neurosurgeon told me that I did not have long to live. In my current state I could at any time during the night turn my head while sleeping, cut off all blood flow to my brain, and never wake up. I immediately began preparing for surgery.

The surgery planned for me was no small venture. It took place on November 11th of 2020 over the course of ~4 1/2 hours under general anesthesia. A piece of my skull was removed to give my brain more space so it no longer sank into my spine. My neck was opened and my vertebrae manually put in place. A device was implanted attaching my skull and spine and a paste made from cadaver bone and my own bone marrow held it all together.

The implant I had placed in my spine

The implant after it was placed

Luckily everything went perfectly. I was a little loopy initially but once I had my wits about me I realized how much less pain I was in following the operation. My head was also clearer even with the heavy pain medication. I wanted so badly to see the limits of my clarity of thought that I stopped taking pain medications just 1 1/2 days after the surgery (aside from the occasional Tylenol). 

Drinking a smoothie immediately after waking up from surgery

After 3 days I was able to return home. At some point I realized that I was much taller following my surgery than I was before. Measurement confirmed that I had gained an inch and a half in height. I was now a whopping 5 feet 8.5 inches tall!

A month after surgery I started physical therapy. Gradually I regained most of my abilities (although sometimes walking can still be a bit difficult due to the damage having my spine compressed did to my legs). My scar healed up and now although it is a bit of an eyesore it is mostly covered by my hair.

As it stands today life is looking up. I plan on returning to college soon and posting more often to my blog. It is possible I will need more surgery in the future as I age, but at the moment I am just glad that I will be given the opportunity to age in the first place.