The appointment with my geneticist didn’t go well. Before any readers worry, this isn’t because I have some sort grave genetic abnormality. I’m fine, but emotionally, I didn’t handle things well. It was an exhausting experience.
Everything started well enough. I made the drive myself. It took about 40 minutes because of construction and heavy traffic, which I anticipated. The only problem was that I was desperate to use the bathroom as soon as I arrived. Luckily, the children’s hospital, where the office is located, has many available stalls. After I was checked in and received my pager (they give you a big light-up button like at some big chain family restaurants that flashes when it’s your turn), I sat in the kid-friendly waiting room and watched a hodgepodge of kids scramble on their hands and knees to “catch” holographic swimming fish in a pond projected on the floor. I was the only adult there who was unaccompanied by their child, the assumed patient. While I was disinterested in hobnobbing on the floor with the fish, I did eventually play with blocks, though self-consciously so, worried the other parents sitting would wonder why an adult without a child was building towers. I was bored enough that I was able to overrule this anxiety and shame and play anyway.
After about 30 minutes, my beeper lit up. I scrambled to disassemble my tower and destroy the evidence that I was playing with kiddie toys before the nurse retrieved me, but alas, I was caught in the act of cleanup! I say this with a tone of humor because it wasn’t a big deal. We had a good laugh about it as we walked back to the exam room. After taking my vitals, which included a circumference measurement of my head (a metric rarely collected in adults), I waited nervously for my doctor. She had prepped me over the phone with the news that some abnormalities were found, but nothing serious. Still, I was eager to know the results and the implication of them. It felt like and an unreasonably long time before she knocked on my door. My geneticist is a warm, patient provider who clearly cares for her patients.
After a quick check-in, we dove into the results. She showed me graphics of my affected chromosomes and explained how to read them. She talked about the abnormalities found in my chromosomes, which are in the form of duplications rather than missing material. This tends to be the less disruptive of the two.
Without going into the specifics of my genetic findings, they did identify eight genes with abnormalities and a section with other duplicate material, although current genetic knowledge doesn’t know the implications of these problems. The geneticist wants to check my parents as well, more out of curiosity to see if they have the same abnormalities than as information that will shape my care at all. In fact, even despite the genetic material abnormalities that they found, the geneticist doesn’t think the chromosomal findings are the reason for most of my physical health problems.
Hearing this is actually what set off the emotional meltdown that characterized my appointment as “poor.” It’s not that I wanted to have severe genetic abnormalities, but I desperately want answers that explain why I’m having all the systemic and isolated system-based issues and have for at least a decade at this point.
We talked about the need to see an endocrinologist and she scheduled me with the doctor she says, “is the best doctor she’s ever known.” Unfortunately, the appointment isn’t until the end of September, but I am trying to be grateful that I have one at all, rather than lament the fact it’s so far in the future, because she’s not technically taking new patients; she’s making an exception for me because of the geneticist’s pull.
As she was closing my chart after discussing my results and scheduling the “absolutely necessary” (in her words) endocrinology appointment, I felt overcome with emotion. All it took was for her to ask if I was okay, and tears started flowing.
“I just feel like I’m falling through the cracks.” My choked words came out barely over a whisper. I went on to explain how it seems every doctor scratches their head after seeing me, agrees there’s definitely something wrong but has no idea what, and schedules me to come back in X weeks or months with little to no treatment plan in the meantime. I confessed my responsibility in the seeming lack of progress–my general avoidance of doctors, my refusal to travel far and wide to the best specialist in the world, and the possible contribution of my anxiety and depression (and autism) on my symptoms–but shared how deeply frustrating and difficult it is for me to get passed off from doctor to doctor or seen without much progress or attempt at a solution. Most times, it seems like one specialist says it’s an issue dealt with by another specialist or that my symptoms in the given specialist’s body system should resolve when the specialist for another body system identifies what’s wrong with me in his or her treatment area and sets me on the right course of action treating that problem.
As I told the geneticist, who looked at me with empathetic eyes, “meanwhile, I’m just here suffering on the day-to-day, sometimes wondering how I’ll get through the next hour, let alone the next six weeks when some doctor plans to see me again in hopes of some miraculous, spontaneous resolution to problems that have been plaguing me for years.” I told her how every night is a battle to sleep despite pain, about the heartbreaking loss of the ability to run and be active and the seeming permanent banishment to an orthopedic boot, about diarrhea so urgent and frequent that I can’t get more than 7 minutes away from a bathroom at any one time (which significantly limits my ability to leave the house or engage in social activities), etc. As she passed me tissues and the medical appointment shifted to a therapy session, it became abundantly clear to me how much I put on my brave face day-to-day and try to ignore my debilitating symptoms. It’s like I adapt my life accordingly but my heart and mind still suffer.
Although it was admittedly an inappropriate venue or practitioner to have such an emotional unraveling, I’m so thankful that the geneticist sat with me and listened so compassionately. She helped me realize the gravity of the emotional damage I have from constantly coping with these health problems and she helped me plan the next steps. I felt understood and even though I was embarrassed for crying and oversharing my emotional pain, I now see the utility of the meltdown and am glad (mostly) that it happened.
Eventually, she got me out of the office and on my way. The drive home was lonely. I talked to my mom for part of the time and tried to relay the findings and confess to my meltdown. I was ready to move on though and abide by more normal modus operandi of burying my sadness, fear, and emotional pain. I had to eat and then work so I just needed to compartmentalize my feelings so I could function and focus on other responsibilities.
Interestingly, just before lunch time, the physician assistant who works for my PCP in Connecticut called to make sure I was not suicidal or at risk for harm myself or others. She said my doctor had heard about how I said I was really depressed and upset and wanted to see if I needed help. I shared the truth: I’m not at all suicidal or thinking of harming myself or others. I know because I’ve been there before. That said, I admitted that I am very depressed and not feeling well physically or psychologically. Not much happened after that, but she said to call if I need anything and that my doctor had just wanted me to know he’s there for me. It seemed like an example of a good chain of communication and action plan between those two providers. I certainly didn’t convey to the geneticist that I was dangerously depressed, but I think it’s good policy for my own primary doctor to follow up and make sure I’m okay. He knows I attend therapy as well, although engaging in therapy alone certainly doesn’t protect a patient from suicidal thoughts.
It takes calls like that one to turn a feeling of hopelessness and thought that “it can’t get much worse” to realize it certainly can and that I’m actually doing pretty well in the grand scheme. I am happy to be alive, am able to find joy and love in my daily life despite my struggles, have hopes and dreams for the future, feel a purpose in my own life, and have relationships deep and meaningful enough that even if all those other things fell out, I’d want to keep going for my loved ones. Some days are more of a battle than I’d like them to be; fortunately, I’ve always had good endurance.