The nightmare

        Before we started PT, I asked some of my friends who were physical therapists if they thought we should get Diana a referral for CP. I sent a video of Diana walking a few steps to one of my friends. Because she didn’t specialize in pediatric PT, she sent it to a couple of her friends. “She could have cerebral palsy,” one of them said.

        At the time, I thought cerebral palsy was the worst thing she could have. But her physical therapists didn’t think that necessarily characterized her balance issues, movement, and tone. So Diana kept working with her therapists twice a week and we eventually got a referral to the Duke pediatric neurology department to investigate and rule out additional conditions.

        As part of the neurology team’s investigation, they suggested a MRI of Diana’s brain and upper spine. Andrew and I both took Diana to her MRI at the Duke Children’s Clinic in March 2026. Even though we knew she was in the best hands, it was scary to see her get strapped in and slide into the big machine. She had to be sedated with a nasal spray before going into the MRI machine, and we watched her fall asleep under its influence while getting cranky. It was easy to wake her because she was not deeply asleep. But since Diana is not a child who falls asleep while being held, we enjoyed the rare sight of her sweet face sleeping in front of us. We sat in the room as they slid her into the MRI machine, rolled up like a little burrito, and took the images.

        We got the results and the neurologists did not see anything that would cause motor delay.

        At our next neurology appointment in May, the neurologist suggested that we do some genetic testing, including whole exome sequencing. It sounded to us like it was more of a formality, to make absolutely sure there was nothing else going on. They took a blood sample from Diana at this appointment. A few weeks later, Andrew and I got at-home mouth swab kits. We swabbed our mouths and then sent in our samples to a third-party company.

        I forgot about the genetic test for a couple of months. But on July 7, 2026, I was driving to work when I got a MyChart notification saying that Diana’s test results were in. Thinking that it would be nothing, I opened the results while waiting at a redlight just about ten minutes away from my office. I saw that the results showed a “positive” result for PANK-2 neurodegeneration. When I parked, I Googled PANK-2 and saw the immediate results for PKAN - something I’ve never heard of before. One of the first questions that came up was “What is the life expectancy for someone with PKAN?” and when I clicked on it, it said that children do not typically live past ten years old.

        Everything in my body started to race. My head and my heart immediately leapt to grief, not denial. I cried in the car at the thought of losing my little girl in a matter of years. I managed to get out of the car, but I couldn’t stop myself for long from crying as I walked to the parking garage elevators and into my office building. I made it to my office, closed the door, and cried some more.

        It was impossible to focus on work. Our neurologist hadn’t said anything about the results, so all I had was Google and ChatGPT, even though I knew that these weren’t always the most reliable sources. I tried to get ChatGPT to interpret the genetic testing report and it asked me questions, and I kept feeding it text from the report. The answers convinced me that Diana had PKAN - the severe, rapidly progressing kind. I asked it horrifying questions and gave me horrifying results. I cried again and again.

        I asked Andrew over text what he thought it meant. Since I’m not a doctor, I started hoping that I couldn’t really understand what I was reading. He said he wasn’t sure. And even though I had a kernel of hope that maybe the genetic report didn’t say what I thought it said, most of me knew that Diana had this devastating condition.

        I left work early. On the car ride home, I was shivering and shaking. I was so cold and I felt like I couldn’t breathe. I’ve never had a panic attack, but I think I had one then. I cried the whole way home.

        In the evening, it was hard to spend time with Diana. I looked at her, my precious little girl, and I wondered how long I would have with her. I wondered how many birthdays she would have and if she would ever go to school or find somebody to love her like I found in Andrew. I wondered what it would be like to watch her deteriorate. I wondered when she would stop being able to eat her favorite foods and when she would have to rely on a G-tube. As I watched her cuddle with her bunny lovey, I wondered when she would lose the ability to hug her stuffed bunnies so tightly and if one day, her bunnies would be all I had left. I wondered how many bedtimes we had left. I wondered how many hugs we had left. I despaired that I would have to watch her slowly die.

        I was so angry at God for giving us this beloved girl and for taking her away. I couldn’t understand how he could take away a girl who had so much to give. I couldn’t understand innocent children had to suffer like this.

        Our neurologist actually didn’t speak with us until the day after we received the test results. She explained that it was not necessarily definitive that Diana’s variants would cause PKAN, and that they might have an impact on Diana, but not necessarily lead to the expression of the disease. However, we may just have to wait and see what symptoms Diana experienced in the future.

        We gave ourselves permission for a few days to believe that she might not have PKAN. So Andrew and I tried to return to normalcy as we waited. A friend from church helped us connect to one of the geneticists at Duke and we were able to schedule an appointment with her a few days after speaking with the neurologist.

        Unfortunately, the geneticist confirmed that Diana had PKAN. She broke the news to us confirming her PKAN diagnosis in a compassionate way and was very patient and thoughtful in answering our questions. She explained that since whole exome sequencing has not been around for a long time, we are able to diagnose rare diseases much more quickly. She explained that we don’t have a lot of information about the spectrum of how these diseases progress. So we began to hope that maybe Diana’s condition was less severe - maybe even atypical, where she had a chance of making it to adulthood.

        

        At the suggestion of our geneticist, we connected with the folks at Oregon Health & Science University (OHSU), where a team of PKAN experts had been researching the disease and developing treatments. A couple of days later, we spoke with OHSU’s genetic counselor. We learned a lot about OHSU’s work, research, and potential trials. The genetic counselor said that they were hoping to include kids like Diana in their clinical trial for gene therapy, which led me to believe that maybe the timing would work out for Diana. However the genetic counselor also confirmed that based on her gene variants, Diana likely had the classic form of PKAN. Diana was likely not making any usable or functional form of protein that would allow her body to create the enzyme, Coenzyme-A. So all of our hopes of a slow-progression were dashed again.

        Very quickly after learning about this diagnosis, I let so many of my dreams for Diana’s future wither away. I became reluctant to dream of anything at all. In many ways, I still am. But so many family and friends encouraged me to have hope and believe in a miracle. I normally would have found such messages shallow or unrealistic. But their love was genuine, and so was their belief. They showed up for us, they prayed, and they started doing everything they could for Diana. So even in the days of my greatest despair, I saw all these people around me and thought that if they could dream of Diana’s future, then maybe I could let them hold me up until I could again too. I knew I had to get to that place - I had no choice. I needed to be strong for my daughter and build whatever future I could for her - and break free from this nightmare.