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The Unspeakable Gift
To understand a lifelong genetic condition, I took part in an NIH study. At times I felt isolated and objectified, but I also met others like me and got answers to mysteries that had haunted me for years, of which the biggest was this: Could I accept and love myself as I was? By Kate Steedly
Photographs by Colin McGuire.
Comments () | Published August 6, 2013

The minister’s sermon was about love.

I hadn’t yet packed my bag for the hospital, and I was scared and a bit hung over from the mojitos I’d consumed the night before. Church has always been a hopeful and welcoming place for me, and that morning I needed to be held in grace. I looked at the bulletin, and the sermon title made me grit my teeth—“The Unspeakable Gift.” In a few hours I’d be checking into the National Institutes of Health in Bethesda to participate in a weeklong medical study. My mind was too preoccupied to worry about love.

The sermon started with a poem by Raymond Carver, “Late Fragment”:

And did you get what
you wanted from this life, even so?
I did.
And what did you want?
To call myself beloved, to feel myself
beloved on the earth.

The minister, Mark, continued with a reading from St. Paul’s letter to the Corinthians: “Thanks be to God for his unspeakable gift.”

The message focused on our ability to give and receive love. Mark explained that our capacity to love is one of our most precious. He related the story of a friend who would end a conversation by saying, “I love you. Do you know how much I love you?” (Who says those words? I thought.) Mark spoke about the fact that the words made him feel weird and that it wasn’t until his friend’s death that he really grappled with their meaning.

Not feeling particularly lovable or loving that morning, I tried to allow the message to wash over me, seep into my sadness, and change my heart a bit. I sat there numb and weepy. The service ended, and I headed home to pack.

I had known about the study for years and ignored the quiet voice that said the road forward leads through NIH. Then a few years ago, I was in a class at the Writer’s Center in Bethesda and did a short assignment about being 15. In the process of researching it, I learned about the study. I turned the story in and thought that was that.

I lived five miles from where some of the most renowned scientists in the world were studying people like me, but I chose denial and fear—until something clicked and I knew I had to live differently.

• • •

The journey had started when I was 15. My first menstrual cycle had been excruciating, and that had set in motion a series of doctors’ appointments. Finding answers meant that my parents and I became private investigators in a search to make me well. My blood was sent to lab after lab. At 15, I learned the languages of endocrinology, genetics, and high-risk gynecology.

The author—shown at age 14, a year before her diagnosis—says that at NIH, “the doctors weren’t concerned with what I’d learned or experienced. That wasn’t their job.”

Sleuthing and vials of blood led to a diagnosis of Turner syndrome, a genetic condition in which a female is missing all or part of her X chromosomes. (Females generally have two X chromosomes, males an X and a Y.) The syndrome occurs in one of every 2,500 live female births. Ninety-eight percent of fetuses with Turner syndrome are miscarried. The syndrome usually manifests itself in extremely short stature and infertility. It can also mean heart and kidney problems, cognitive difficulty, spatial-reasoning issues, hearing loss, dry eyes, diabetes, and osteoporosis. My case was a bit more complicated in that I was missing only part of an X chromosome, which meant I had a “mosaic” form of the disorder.

I’m not sure if my endocrinologist had ever made a Turner-syndrome diagnosis before. His reaction was one of both concern and curiosity. I remember him saying, “By the time this is an issue for you, who knows what technology will be able to do?”

After we left his office, my mother and father took me to a Mexican restaurant. Maybe they were as scared as I was, but we didn’t discuss what the doctor had said. I ordered a burrito and soldiered on.

A mosaic form of a genetic disorder allows doctors to hedge their bets. They’re never really sure how the condition will express itself until they poke around inside. My endocrinologist wanted to find out exactly what Turner syndrome looked like in me, so he sent me to a gynecologist who was known to handle unusual cases.

A laparoscopic procedure, which required general anesthesia and a small incision below my belly button, confirmed that I had “streak ovaries” (scar tissue that doesn’t produce eggs). A bone-density scan revealed that at age 15 I was already on the road to osteoporosis. I wanted to be thinking about guys and driver’s ed, not bone degeneration and ovulation.

The years that followed were filled with treatment typically prescribed to postmenopausal women—hormone-replacement therapy, bone-density scans, bone-strengthening drugs. As my doctor tried different hormones, I endured the same emotional shifts, night sweats, and weight gain familiar to many grown women. I never looked any deeper into Turner syndrome than the initial investigation. I even kept the same gynecologist until I was 33, scheduling appointments months in advance and making special trips home to Louisville from Washington so I wouldn’t have to explain my situation to anyone.

I grew weary of educating doctors about Turner syndrome when I was being treated for everything from strep throat to pinched nerves. The question about medications always required that I disclose hormone-replacement therapy, which meant I had to explain why someone of my age was taking hormones.

Disclosure became more complicated once I became an adult and health insurance entered the picture. When asking about preexisting conditions, an insurance investigator once said, “When did the condition start?” and I replied, “Mitosis.”

A pause, then the follow-up: “When do you expect treatment to end?”

“When I die.”

Again and again, I cringed at the thought of coming out as a person with Turner syndrome. I tried to retreat into a kind of normality that deflected reality as much as possible.

The decision to participate in an NIH study was an attempt to confront the silence. I was 35 years old. It was time.

• • •

I arrived at the NIH Clinical Center alone, early, and unprepared. The nurse responsible for checking me in wasn’t even on duty yet. I had packed my suitcase as if for a four-day business conference, not a hospital stay—slacks, blouses, and pumps rather than T-shirts, sweats, and tennis shoes. That was probably a function of my denial as well as my “don’t leave home without lipstick” impulse. I’d never spent a night in a hospital, never had an MRI or CT scan.

People generally don’t go to NIH when they have a garden-variety illness. NIH takes the sickest of the sick and offers hope. Old and young gather there. The common denominator is illness—the kind so serious that it generates platitudes and whispers. To be a patient at NIH feels like being a contestant on a reality show in which all the cameras are turned on you—or being a lottery winner when the prize is assuming a large debt at a huge interest rate.

My mom arrived from Louisville that evening to hold my hand. She had gathered some hospital-friendly clothes from my apartment in response to my SOS call and set up my closet while I tried to make sense of my hospital schedule.

A nurse came by and pointed out the container into which I’d need to pee. She told me they’d be taking my heart rate and blood pressure every few hours. She noted the times I’d need to fast and the times they’d be drawing blood. She said the study director would arrive in the morning to make sure my paperwork was complete. She revealed very little, other than time and location, about the alphabet soup of tests on my schedule: “The specifics will be explained by the doctors.”

All my meals would be in my room. I shared the first one with my mom. The food looked like it was supposed to taste good. I had been assigned the least restrictive diet and could eat as much as I wanted when I wasn’t fasting. I ordered enough for two, and my mother and I sat there talking about her trip and what the nurse had described. After dinner, she headed to my apartment.

While we were eating, my roommate, Annie, arrived. Roughly my age, she was the first person with Turner syndrome I’d ever met.

Annie was from Texas, where I’d gone to grad school, so we talked about barbecue and line dancing. At five feet, she was a shade taller than I was, with wavy red hair hanging down her back. Her disarming drawl and openness stood in opposition to the short sentences and hard edges that would characterize my time at NIH. Before I met her, my image of Turner syndrome was based on pictures in 1950s textbooks of people who looked like a cross between Dawn of the Dead zombies and Frankenstein. She was beautiful.

I had someone to talk to during the nights that would prove difficult. Annie was in love, and we spent hours talking about the wonderful man with whom she planned to spend her life and who was supporting her through the Turner-syndrome journey. I wasn’t in a relationship, so her story was a hopeful example of love and connection. The study occurred in September and I was planning a trip to New Zealand in November, so she listened to me talk about my plans as I thumbed through my Let’s Go and Lonely Planet guides.

Annie had participated in the study three years before and was now doing the follow-up longitudinal component. Doctors had found problems with her heart during her earlier stay, so a great deal was at stake. She knew the ropes and could sometimes assuage, sometimes confirm, my fears.

Most of all, we shared a bond that widened my circle of what it meant to be normal. She knew what it was like to have the “So . . . let me explain about my having children” discussion with a boyfriend. She knew about hormone-replacement therapy and what it was like to hear a doctor say, “Well, your aorta could be malformed and your kidneys could cease functioning.” She had osteoporosis, and clothes didn’t really fit her, either.

I met the principal investigator (PI) of the study on Monday. Her salt-and-pepper hair and wire-rimmed glasses projected deep knowledge. Very scientific, she discussed the history of the study and explained how it fit with other Turner-syndrome work around the world. She had a perpetual-motion air that didn’t seem to allow her to sit down and hear my story.

I quickly learned that my experience wasn’t the point of the study. Doctors were primarily interested in the clinical and genetic factors related to Turner syndrome. The PI talked about an additional study on blood glucose in which I’d be asked to participate. Our eyes never really met. My mom took notes. The PI was politely interested and left after ten minutes. Her assistant provided copies of articles published by the NIH research team.


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  • Sara Baker

    Beautiful and brave.

  • Mark Hohmann

    Excellent article: honesty, fearless and about the one thing in life that really matters.

  • Jim

    One of the best articles I've read in a long time.

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Posted at 12:30 PM/ET, 08/06/2013 RSS | Print | Permalink | Comments () | Articles