Doctors sitting around the table and interpreting x-ray image

My 10-Year Diagnosis Journey: An Update

“Same story, different day.”

That’s my default response when people ask me how I’m doing. And it’s the truth.

When I last detailed my grueling diagnosis journey, it had ended on a hopeful note. There was one remaining obstacle, however. I still had to confirm CrowdMed’s suggested diagnoses with my doctor. But I can’t afford a doctor or health insurance, so I wasn’t sure how to move forward.

I eventually found a local doctor’s office that offered discounts for uninsured patients. Within days, I had my initial nurse’s assessment, scheduled a follow-up appointment, and that was it. I left the doctor’s office that day feeling hopeful again.

Two months later, I went in for my follow-up appointment. I saw another nurse. The conversation did not go well.

“What are you here for, today?” asked the nurse.

“I think I have vascular Ehlers-Danlos syndrome,” I replied plainly.
Her face twisted in confusion. “What?”
“Vascular Ehlers-Danlos syndrome,” I repeated, a little more slowly.
“I ain’t never heard of that,” said the nurse.

And from there, the entire visit just fell apart. I tried to explain everything to her clearly. I tried to emphasize how important this was to me. But it all fell on deaf ears. She just kept repeating phrases like “We aren’t equipped to deal with this,” “You need a specialist,” and “I don’t even know where to start.” She didn’t listen at all.

So the appointment was over. The nurse reluctantly agreed to schedule me with a doctor for my next visit, and I held on to that hope.

The night before my doctor’s appointment, I drank two glasses of water and, as a result, I was up all night in pain. After three hours of sleep, I got up and got ready. I grabbed my CrowdMed report and my medical records, and I was out the door.

By the time I was in an exam room waiting on my doctor, I was a nervous wreck. I was prepared for the worst. I was sure the doctor wouldn’t listen. I was sure she would dismiss me like all the rest did. I was sure it would be just another soul-sucking disappointment . . . another dead end and another reason for me to give up. I had my figurative guns drawn as I bounced my knee nervously, waiting for the emotional blow that was sure to happen. I told myself that I could do this. I told myself not to cry.

Almost as soon as the doctor walked in, everything came tumbling out. I told her that this was 10 years in the making. I told her that I know I’m sick, but I’m just not sure what was wrong. I talked about how this wasn’t just something I read on the Internet. This is real, I said. This is my life, and if I don’t fix it, I will have a psychotic break. I said a lot in those few minutes, probably talking louder than I really needed to. I was so sure she was going to shoot me down, but I was determined not to go down without a fight.

And then I talked about CrowdMed. I showed her my CrowdMed report, and she actually looked through it. There it was – more concrete evidence than I’d ever had before. It was proof that I am sick, even if it doesn’t have a name. It was page after page of support. It was a loving embrace that translated into just three words: “I believe you.”

She thumbed through the report, digesting the content. She debated the various diagnostic suggestions, ultimately agreeing with the most popular suggestion, Ehlers-Danlos syndrome.

Ultimately, she ordered a blood test for Lyme disease, which turned out to be negative, and agreed to begin the process of submitting my case to the Undiagnosed Diseases Program.

And then the appointment was over. But I was happy. This doctor listened! She didn’t minimize me, dismiss me, or make me feel crazy. I wanted this doctor for all my appointments! But when I got to the front desk, I found out that she would no longer be working there by the time my next appointment happened. So I had to schedule an appointment with a different doctor, and just hope he was helpful.

In August, I had another appointment. When the nurse walked into the exam room, she took my vitals. Then we started to discuss my chart. As the nurse read the chart notes out loud, I thought I heard her say vascular Ehlers-Danlos syndrome.

“Wha –  so, is – is that my official diagnosis? Vascular Ehlers-Danlos syndrome?” I stammered.

“Yep! Says here, “Patient may have vascular Ehlers-Danlos syndrome,” the nurse replied.

I instantly started sobbing. I cried so hard that my shoulders were shaking and it was hard to breathe. I grabbed some tissues and tried to compose myself. I felt numb and hollow, and everything sort of floated away. Was this really happening? I had an “almost” diagnosis. I had a preliminary diagnosis of vascular Ehlers-Danlos syndrome!

Then my doctor came in. He was just as helpful as my first doctor, and he spent two hours in the exam room with me, discussing my circumstances. We talked about EDS, about financial limitations, and about my own limited options. He also ordered blood tests for several autoimmune issues and a few other diseases, which were all negative. Much to my relief, he was fighting for me, not against me.

But he was not a specialist, and there was only so much he could do. So I spent the next five months calling, e-mailing, and researching my options that would allow me to afford the specialist that I needed to see. It felt like I was groping blindly in the dark. But I was determined.

Eventually, I learned that I need a series of blood tests to confirm a diagnosis of vascular Ehlers-Danlos syndrome. There is only one lab in the United States that offers it, and the tests cost $1,500. With the help of some business connections, the lab has agreed to reduce the cost to $950, and a charity has agreed to pay $250. I am living on $50 a month, and I must pay the remaining $700.

And for now, that is where the trail ends. I am $700 away from potentially changing my life forever. If my doctor orders the test, and it’s negative, I will hit a dead end. If the test is positive, I have to accept that I will die. vEDS patients usually do not live past 50, and I am now 32. There’s not much time left.

That’s not enough time to see the smiling faces of my friends, or to hear their laughter one more time. That’s not enough time to see just one more sunrise, or experience just one more birthday. That’s not enough time to love, appreciate, and savor. It’s never enough time.

Many people fear growing older, but I may not even live long enough to grow older. I don’t think about this often; I don’t have time. There’s not a lot of time left.

My 10-year diagnosis journey is not over. Sometimes I dare to hope, and sometimes I have to shut down. In the end, though, I always move forward, one step at a time. I will never give up.  I will get a diagnosis . . . even if it kills me!