In January of 2017, I was sitting with my brother over lunch and updating him on my medical situation. I had been living through a year of severe neck pain that came on suddenly one morning in 2016. My doctor diagnosed it as a muscle strain, but it wouldn’t get better. I was on a roller coaster of recurrence. It would seemingly heal, and then I would be knocked down with severe pain again.
Several urgent care and ER visits later, my doctor was working me up for possible Thoracic Outlet Syndrome, and sending me to a physical therapist, a nerve conduction study, and a vascular surgeon. The nerve conduction study would test for damaged or pinched nerves in my thoracic outlet, the pathway of blood vessels and nerves that travel between the collarbone and the first rib. The vascular surgeon would do a work-up to determine if I had any veins or arteries constricted in this area. My brother looked at me and joked “well, they won’t even have to do any scans for that one since you can see through your skin!”
It was true. I have always been translucent, my veins on my body a map visible for anyone to see.
Later that day I sat down and thought about what years of doctors could have missed. I had always been in and out of doctor’s offices, seeing various specialists for migraines, vertigo, heart palpitations, gastrointestinal issues, skin disorders, suspected autoimmune disorders, and growth deficiency as a child. In the last year alone, I had seen multiple physicians, urgent care clinics, and ER doctors for my neck.
A few years prior to this conversation with my brother, a dermatologist told me about Ehlers Danlos Syndrome (EDS) and recommended I see a geneticist to rule it out. A few months later I was in a geneticist’s office. I thought it was the best appointment of my life. I told her all about my medical history, and told her I suspected the vascular type of EDS. I showed her my double-jointed fingers and toes, my translucent skin, and old-looking hands and feet. I described my medical history. She did what I know now was a clinical work up for the most common types of EDS. She explained after the assessment that I did not meet the criteria for EDS. I asked her about the vascular type, and she told me I didn’t need to worry about that type because no one has it. I did not fit the criteria for EDS, so no genetic testing was performed.
So here I was, sitting in front of my computer after lunch with my brother several years later. I decided to look into it again. I was terrified when I realized I fit almost every minor diagnostic criteria for Vascular Ehlers Danlos Syndrome (vEDS). I was certain this is was the answer, and this time the severity of the condition sunk in deep.
I spent the next three months trying desperately to get my doctors to order a genetic test, while also trying to resolve my neck pain. Physical therapy made my condition worse, and I realized that yoga did as well. My doctors agreed there was something to the possibility of vEDS, but no one felt comfortable ordering a genetic test. The genetics lab agreed to accept a blood sample if my doctor’s office took the blood draw. After a month and a half of trying to coordinate this with my doctor and getting him in contact with the lab, he told me he still didn’t feel comfortable ordering the test. That was a geneticist’s job.
I finally got on a waiting list with a geneticist for vEDS, but that waiting list was a year out. A year without the support I needed. I was terrified.
In a last ditch effort, I called the geneticist I had seen a few years prior, who was now close to 3,000 miles away. I explained that I had moved out of the state, and described what was going on. I begged the medical assistant to pull my file and look at the notes. I felt like a walking bomb, my insides literally ready to explode and no one to help me.
I got a call a few days later and was told I would be receiving a saliva test kit in the mail. A saliva kit. All of this work for a little saliva test.
When the test came back positive for a pathogenic mutation in COL3A1, the gene correlated with the production of Collagen 3, supporting a diagnosis of vEDS, I was both relieved and devastated. Everything in my life was suddenly explained by this underlying condition that years of doctors had missed. A mutation resulting in faulty collagen throughout my body. Collagen that holds everything together.
The geneticist I was on a waiting list to see was suddenly able to see me in two weeks for an emergency appointment. I was finally going to get set up with the care team I needed.
On the other hand, I suddenly had confirmation of a deadly genetic condition with no cure or treatment. A genetic condition that could cause spontaneous ruptures of almost any artery or organ in my body, complete with a significantly reduced life expectancy.
In the year and half it took to diagnose my neck pain as a dissected artery, I had been to the ER and urgent care clinics five times, had seen three different physicians, been through six weeks of physical therapy, endured six months of yoga, a nerve conduction test, and two different ultrasounds of my arteries. The dissected artery and resulting pseudo-aneurysm was finally confirmed with a CTA scan in September of 2017.
At the time my vEDS diagnosis was confirmed, I had just turned 28 years old.