Searching for Answers

BY V. A. WEST

Before I can delve into my visit with Vanderbilt’s Undiagnosed Disease Network clinic in Nashville, Tennessee, a lot of context is needed. Explaining my story leading up to this point is important; maybe someone reading this could relate and try this avenue like I did.

I have a long and complicated medical history. I have an unknown pain disorder (which has forced me to use a cane for over four years), bile-acid malabsorption, free-running circadian rhythm disorder, insomnia, sensory issues, generalized anxiety, social anxiety, depression, memory issues, complex post-traumatic stress disorder, and a multitude of other minor health problems. I have to micromanage my everyday life in order to walk, drive, spend time with friends/family, and do anything else “normal” people do. I have been receiving disability benefits since I turned twenty, and I’ve never been able to work or go to college. In my twenty-four years of life, I’ve already had more procedures (colonoscopies, endoscopes, all other GI tests, gall bladder removal, kidney stone removal, bowel obstruction, etc.), tests (blood, urine, stool, MRI, ultrasounds, CT scans, traditional x-rays, sleep studies, etc.), and medications (well over four dozen) than most people will in their entire lives. All of this is only scratching the surface; my diagnoses, test results, and other stuff do not explain why my everyday struggles are so severe. After trying everything I could, the Vanderbilt UDN accepted my case, and my last chance for answers or solutions has been put into their hands.

The process began in September of 2021, with the actual appointment happening on August 24, 2023. In that two-year time frame, blood tests were sent by myself and my mom. Between that time and the time of my appointment, various paperwork was sent, and many calls and emails were exchanged; it was exhausting. I probably had to communicate more in the final month leading up to the appointment than I did during the previous twenty-two months (travel arrangements, things I needed to do the night before I arrived, COVID questions, etc.). Communication was generally great, but those last few weeks were frantic, and I was bombarded with emails and calls until the day my mom and I left.

The drive was around five hours, which was very hard on my body. Even though I wasn’t the one driving, my health situation made staying in one place for a long time very taxing. This was also during a notable heatwave between August 23 and 25th. On August 24th the day started at 7:00 am and we wouldn’t be back at the hotel until after 4:00 pm. During those nine hours, I had appointments with a geneticist, a neurologist, and an internal medicine specialist; I also had two blood tests, two urine tests, and a skin biopsy. The entire day was probably the most physically and mentally exhausting of my entire life, but it was worth it and I’m mostly satisfied with what happened.

My appointment with the geneticist, the first doctor I saw, was where I received the most important information. He gave me the results of the genome sequencing, a complex test that analyzes DNA and tries to find commonalities and abnormalities based on a set list of parameters (which include symptoms, diagnoses, and other things). My results were, as I expected, inconclusive; I didn’t find any answers or solutions during my visit. I did, however, receive a degree of validation I’d never experienced before. I moved past the concept that my overall health situation was “all in my head” years ago, yet I know how “impossible” it sounds when I explain everything. I was given information that essentially proved me right; I have between one and three diseases, which are either extremely rare or unnamed. The geneticist found 10-20 mutations in my genes which need to be isolated more in different ways. It’s sad, but being proven right about the severity and complexity of my situation brought me so much joy; I guess it meant more hearing it from an expert. The best part of going there, to me, is that my work is done; their group of doctors (who each specialize in different fields and work together) will continue to reevaluate and work on my case for years to come. They don’t need any more blood work or additional tests done; I only have to communicate to them if anything changes.

The Vanderbilt UDN, in terms of my overall time there, was wonderful. It was probably the best hospital experience I’ve ever had and I was lucky enough to have possibly the world’s best nurse; I don’t make either of those statements lightly, especially with my medical history. The buildings were very clean and the air-conditioning was great; I could tell all three of my doctors were good at their jobs and openminded (when you’ve seen dozens of doctors who study in various fields, you eventually get a sense of intuition about them). Transportation, food, and the hotel were all paid for through their research grants. I would highly recommend going there if they’ll take your case.

My thoughts and feelings regarding the most important medical appointment of my life changed over the years. At first, I promised my mom I would go, on the condition that it would be my last time dealing with most doctors, and with the hope that my mom, at least, could find some answers. I didn’t have much hope or optimism, but I was still determined to see what would happen and I wanted any answers I could get. In the final months leading up to August 24, things changed. I had begun hormone-replacement therapy and was right in the middle of my gender transition (and the staff at Vanderbilt were great with my name and pronouns; I’m very grateful); in July, I put a lot of effort into sorting out the doctors I needed to see semiregularly. Avoiding doctors entirely was never going to be possible; however, limiting my appointments and taking as many precautions as possible is best for my emotional health. More importantly, I had grown strong enough, emotionally, to realize I would attain happiness no matter what Vanderbilt could or couldn’t find; I no longer needed answers to continue pursuing my best life or my best self. Yes, everyday living is still very difficult, but between my self growth and my support group, I’m certain I’ll end up attaining the things I want most (no matter how short or long my life ends up being). Everyone deserves to be happy and healthy; everyone deserves to receive support, validation, understanding, and love from the people around them. You are not defined by your medical issues, and you are not alone. No matter what the future holds, there is always hope.