When a doctor offers only a shrug in response to her daughter’s exam, Yssa DeWoody sets off on her path to becoming an advocate.
Yssa DeWoody, PhD, is the Cofounder, Director of Research, and past President of Ring14 USA, a non-profits focused on improving the lives for those impacted by neurodevelopmental disorders on the 14th chromosome through research, advocacy, and support. This work is a labor of love motivated by her daughter, Marie, who was born with the ultra-rare Ring Chromosome 14 Syndrome. Yssa is true believer in collaboration as actualized by her commitment to several consortiums including Ring14 International (Cofounder and Past President), the Rare Epilepsy Network (ex officio Chair), Epilepsy Leadership Council, Epilepsy Learning Healthcare Systems, and the Commission for Neurodevelopmental CNVs (founding partner).
Transcript
It was the end of the summer in 2005. My husband and I were sitting in the waiting room at Riley's Children's Hospital with our four‑month‑old baby daughter, Marie. We were waiting to be seen in their pediatric neurology clinic. This was our first official neurology appointment. I know. Neurology and babies, two things that really shouldn't go together.
I bet I was cold. Hospitals always make me cold, but I know I was scared. My husband and I were both scared. Honestly, the last whole month felt like a nightmare that I just wanted to wake up from.
It started with Marie having a cluster of seizures at three months old, seizures that only stopped after an ER doctor gave some pretty strong meds. It ended with a strange and rare diagnosis.
During the chaos of trying to figure out what was going so wrong, somebody at the hospital had sent off some of Marie's blood for genetic testing. A karyotype, the standard test for identifying chromosomal abnormalities.
In a normal karyotype, all the chromosomes are paired up and lined up from largest to smallest. They look like straight little soldiers. But in Marie's case, in the 14th slot, one of her chromosomes had formed a circle. The ends had fused into a ring. She was given the diagnosis of Ring Chromosome 14.
When the genetic counselor called us to give us the news, she reported that the hospital had no record of ever caring for a child with Ring 14. She could only point us to a few papers in the medical literature. Case studies where terms like uncontrollable epilepsy, intellectual disability, autism, global delays, these were the terms that leapt off the pages at us. So, yes, we were scared. Terrified, actually. There was nothing encouraging about what we read and we felt alone, very alone in the journey.
The receptionist called out Valerie DeWoody. It took us a minute to realize that she was calling our daughter, Marie. Marie's first name is actually Valerie, but we've always called her by her middle name, Marie, so it was jarring to have her summoned by the name Valerie, which kind of added to the surreal experience.
We were led into a very white, very sterile exam room. No friendly murals on the wall, like at our local pediatrician's office. Just an exam bed, a couple of chairs, and a computer in the background.
The doctor came in. She introduced herself. She did a quick history of the events that had led us to her. Then we talked briefly about the diagnosis. There wasn't much known, so there wasn't much to talk about.
Then she started her assessments. Testing muscle tone, reflexes, eye gaze, tracking. Marie wasn't doing great, but the test that I really remember was the one where the doctor placed her hands beside Marie's head out of her vision and she clapped. The test was could Marie localize the sound and was she curious enough to seek out that noise.
Marie did not react at all to this test. Although we knew from our experience at home that Marie could hear, again, the doctor clapped her hands a little louder, a little sharper this time, but, again, no response from Marie.
That's when the doctor looked at me and she shrugged. A simple gesture, shoulders to ears, head slightly bent, tight mouth. Honestly, this is the moment I remember most about the visit. Clap, no response, shrug.
I'll never forget that moment and that gesture. To me, that shrug, it felt like a rubber stamp on Marie, saying, "Diagnosis confirmed. Prognosis not good. End of story.”
My heart dropped. My mouth felt dry. Was that it? Was that the summation of this exam? A shrug?
By the time we left the office, I felt so angry. Part of that anger was directed at the doctor in her seemingly cold response, but part of that anger was directed at me. I had been so silent. I don't remember sharing anything personal about Marie. I don't remember questioning that shrug at all, asking her to explain what she meant by that gesture. I didn't have the emotional capacity that day to question anything. I just knew that we would need a doctor who would look beyond the test, a doctor who would want to know Marie and not just Valerie.
In truth, I still needed to get to know Marie. At four months of age, her little personality was just starting to bloom. I still was learning how she would fit into our lives or, more accurately, how we would grow to accommodate her. I didn't know yet how we would find such joy with every milestone she reached, no matter how small, no matter how delayed. How she would love to blow bubbles and blow them with her whole heart, how she would enjoy her walks around the block that have a love‑hate relationship with the wind, how her smile would light up our whole world and, indeed, how our world would start to revolve around her beautiful life.
I didn't know then that we would see that shrug again and again from many different people. I would learn that it would become my job to answer that shrug. Does it imply indifference? Or does it imply we simply do not know how to help? In either case, I had to learn to answer that shrug, to give voice to Marie’s value in the face of indifference, to learn everything I could about this diagnosis and to play a part in answering the question of how to help.
Years later, we would find ourselves in another hospital, Children's Medical Center in Dallas. Marie had been admitted for nutritional concerns and needed a surgery to get a feeding tube. We had practically moved into the hospital room. Placed an adorable picture of Marie on the nightstand, toys for when she felt better. We had learned to be very intentional and to set a stage so that anyone who walked into that hospital room knew that this girl, Marie, my daughter, she was loved and valued.
This time, this hospital it turned out to be a teaching hospital and the doctors moved in packs during their rounds just like they do in TV. While the doctors were doing their assessments, I made sure to bring color to Marie, sharing who she was on a good day and highlighting her abilities not just the challenges.
As the pack moved into the hall to further discuss Marie's case, because, of course, there were complications, she was a very unique case. I followed them out into the hall to be present. Yes, I had learned to always be present and have a voice at the table when my daughter's care was being discussed.
The intern pulled out a research paper and began briefing the other doctors on Ring 14 Syndrome. I was surprised and felt a lot of pride when the intern pulled out that research paper, because I knew that paper very well. I played a role in funding that research. It was a study in which Marie was a participant. I could point to her picture in the paper.
That was a watershed moment where I could see that the work that I was doing alongside other parents was actually being used in clinical care. We were filling the gap. I had become an advocate, giving value, silent no more. I had learned to answer that shrug and it felt like just like what I was meant to do.