Henley Jordan Parsel was born on February 25, 2020, just as the world began to shut down due to a global pandemic. Toilet paper was impossible to find, and uncertainty was everywhere. It was already a stressful time, but just as we started to adjust to our “new normal,” our world was turned upside down.

At six months old, Henley had lost weight, and we had her hospitalized to figure out what was going on. Within a few days, we were told that Henley might have a rare genetic disorder called Cystinosis. We were devastated. Given how rare it is, we didn’t want to believe it. But on October 6, 2020, the diagnosis was confirmed. We mourned the life we had envisioned for our daughter and our family.

The first few months were a blur of adaptation. Henley required multiple medications every day, all administered through a G-tube, along with all of her feedings. Alarms went off around the clock—on our phones, throughout the house—reminding us of medications, feedings, or therapies. We struggled to see a light at the end of the tunnel and feared that life might never feel normal again.

Then, slowly, we began to see progress. Within four months of her initial hospitalization, Henley stopped vomiting. She began showing interest in solids and even took a bottle again. She was crawling, standing, growing—and smiling through it all. You would never have known she was sick.

Around her second birthday, everything changed—overnight. The night before, she hit a major milestone, eating a full bowl of chili and loving every bite. The next day, she stopped eating and still hasn’t eaten like that again. As we searched for answers, things worsened. She began vomiting three to four times a day. She couldn’t gain weight, constantly battled colds, gagged and threw up any time she cried or tried to eat. We started sleeping in a big girl bed with her, terrified she might aspirate in her sleep. For almost two years, our lives revolved around ER visits, hospital stays, and visits with her nephrologist to adjust medications or explore new options. We also turned to the Cystinosis community, who helped guide us and provide support as we searched for reasons behind the sudden decline.

Unfortunately, we learned that caring for a child with a rare, medically complex disease like Cystinosis is incredibly challenging. There’s no one-size-fits-all solution. There are periods where you are constantly in fight-or-flight mode, with good days and bad, good months and harder ones. We were desperate to stabilize her and help her feel like a kid again.

Thankfully, our nephrologist was open to trying new medications, adjusting her medication load, and even helped us pursue additional therapies and state support. With his help, we realized that a treatment that once worked might not always work—and that it’s okay to try something new, even when it’s scary.

After two years, Henley stabilized again. Vomiting rarely happens and she began gaining weight and growing again. She still doesn’t eat by mouth but on her 5th birthday, she tasted her birthday cake frosting for the first time ever! Even though our days and nights are filled with ongoing medications, G-tube feedings, feeding therapy, speech therapy, and occupational therapy, she is joyful, playful, and full of life. She loves to sing, dance, swim, and play Elsa, Paw Patrol, and doctor. She has started kindergarten and is thriving!

As we look back on our journey, we’ll never forget the night we first heard the word “Cystinosis.” A genetic counselor came into our hospital room and explained the possible diagnosis. He told us that a cure might be possible someday and gave us hope. Thanks to advancements in research, especially stem cell and gene therapy trials, “someday” feels closer than ever. Recently, Novartis announced a new trial for children ages 2–5, and for the first time, we feel like a cure could truly be within reach.

If you are a new parent reading this, we know it is overwhelming. It does get easier, and you will find your new normal. To everyone who has donated in the past or who will donate in the future—thank you. Your support fuels research, treatments, and better quality of life for patients like Henley. None of this progress would be possible without you.

With Gratitude,
The Parsel Family