I always knew parenting would be overwhelming and all-consuming, but I never expected this. Just five hours after our sweet Sawyer was born, the on-call doctor rushed into our room, waking us from a deep, exhausted sleep. With a calm urgency that made my heart stop, she said, “Your baby is breathing a hundred breaths per minute and still isn’t getting enough oxygen.”
We lived in a rural town at the time, and the doctors quickly explained that Sawyer needed to be life-flighted to a children’s hospital over two hours away. I felt numb. Confused. Was this a nightmare I couldn’t wake up from? What could be wrong with my perfect baby? Why couldn’t she breathe? My husband and I said goodbye to her, not knowing if we would see her again, not knowing if she would survive the night.
Over the next month, Sawyer remained in the NICU while doctors ran test after test. Specialists evaluated her from every angle. She was put on multiple antibiotics. Still, there were no answers. Eventually, she showed improvement, but a diagnosis remained elusive.
When she was finally sent home, it was with an oxygen tank—she still couldn’t breathe on her own. At home, she was a typical newborn in every way…except she wore a nasal cannula twenty-four hours a day. She stayed on oxygen for about two months. There were some mild developmental delays, but nothing severe. Doctors reassured us that everything was fine, yet my mother’s intuition gnawed at me. We decided to test for a few chromosomal disorders as a precaution, just to ease the uneasy feeling that never left me.
Her medical file simply read: “Unknown respiratory issues at birth.” We wanted more children, but the question loomed—what would that even look like when Sawyer’s health was so fragile? She kept getting respiratory infections, and no one could tell us why. During one pulmonology appointment, her doctor suggested testing for a common genetic lung disease, since she showed certain symptoms. But insurance denied the test, claiming it wasn’t necessary. I went to court, pouring every ounce of my exhausted energy into fighting for Sawyer, but the judge still denied coverage. I remember collapsing, utterly hopeless.
Meanwhile, we became pregnant with our second child. Her pulmonologist assured us that, even if Sawyer had the disease, it was treatable, and our second child was unlikely to be affected. After consulting multiple specialists, we decided to see a geneticist. Perhaps a referral from him would sway the judge—or at least finally give us answers.
I’ll never forget that first appointment with the geneticist. I was frustrated. He looked at Sawyer and casually said he wanted to run some tests to “complete her file.” After years of pokes, prods, and endless testing, I felt a surge of anger. But we complied. We held her down for blood tests, strapped on urine bags, endured x-rays with six people restraining her, all in pursuit of a single goal: answers.
Then came the worst day of my life: June 16, 2016. Six months pregnant and at work, I saw a missed call from the doctor’s office. Naively, I answered. What followed shattered my world. The doctor gently, carefully delivered the devastating news: our sweet, perfect little girl was dying. Three years later, writing this still makes my stomach churn.
Not only was Sawyer terminally ill, but there was a one-in-four chance our unborn son could have the same disease. In that moment, my hopes and dreams for our daughter crumbled. I didn’t want to tell my husband. I didn’t want to know the fate of our unborn son. I just wanted to disappear.
The diagnosis was Sanfilippo Syndrome—a rare and cruel disease often described as childhood Alzheimer’s. Sawyer lacked a critical enzyme to break down toxic waste in her cells, causing her body and mind to progressively deteriorate. Two days after our son’s birth, we had him tested. Thank God, he is unaffected.
Three months later, we fought to get Sawyer into a clinical trial—our one chance at hope. She became the sixth person in the world to undergo this experimental gene therapy. We still don’t know if it’s a cure, and we’re often asked about it. All we can say is that it gave her life a fighting chance.
Today, we live each day as a gift. We spoil Sawyer, give her every possible therapy, and cherish every moment together. We relocated to a larger city to ensure she gets the care she deserves. She has lost her speech, and hip problems are emerging, yet she still loves to jump on her full-size trampoline—yes, right in our living room. We focus on the present, never on the inevitable future, taking life one minute at a time.
We never imagined becoming special needs parents, yet here we are, advocates for this rare disease. We’re part of the Cure Sanfilippo Foundation, funding clinical trials so other children have a chance at life. We fight for research that may one day eradicate this disease. Through it all, we trust God, even in the midst of unbearable pain, and we love our daughter with every fiber of our being. No child should outlive their parent.
Sanfilippo brings constant grief, the kind that makes every day a question: Will today be the last she walks? Will she recognize me tomorrow? But when I see her fight each day, her joy, her resilience, I find strength. We wake up every day, face the unknown, and love fiercely, because Sawyer deserves nothing less.
