Harpor's Story

“We're hearing a voice we once weren't sure we would hear.”

Harpor has been doing things her own way since before she was born. At our 20-week anatomy scan, we learned she was very, very small. The doctors explained that small parents sometimes have small babies, but with Dan standing 6'3" and built like a lineman, and me above average height, that explanation felt like a stretch. Meanwhile, Harpor refused to flip or show her face for the entire pregnancy, leaving us with only some lovely ultrasound pictures of her hands. We were already getting to know our stubborn girl when she arrived by C-section on March 2, 2022, weighing 4 pounds, 13 ounces. She struggled to breathe and was rushed to the NICU — a terrifying beginning to four weeks in the hospital, where we learned she had a hole in her heart and significant feeding difficulties.

Once we brought her home, her first year became a puzzle we couldn't quite put together. Some days, we believed the reassurance that she would catch up; other days, too many things weren't adding up. As milestones failed to come, we began the long process of genetic testing: one normal result, then another, until whole exome sequencing finally gave us an answer after roughly nine months of waiting. All that time, we were loving our beautiful baby girl while wondering what we could be doing to help her, hoping the phone would ring yet fearing what we might hear.

The call came in June 2023: Harpor had ZTTK syndrome, caused by a genetic change that happened by chance. At the time, we understood there were fewer than 50 documented cases worldwide; our physician had to refer to a bare-bones Wikipedia page. Having a name brought little certainty, and the months that followed were filled with specialists, conflicting recommendations, and decisions we never felt prepared to make. Something like deciding whether Harpor needed a feeding tube suddenly became ours to navigate. We were learning to be her advocates while still learning to be her parents, carrying questions about whether she would ever walk, talk, or go to school.

While we worried about her future, Harpor kept finding her way forward. She never crawled, preferring to scoot surprisingly fast on her bottom, but at two, a new pair of ankle braces gave her the stability to take her first steps at home. Our excitement was matched by the pride on her face as she discovered a whole new freedom. Now, at four, she's climbing, playing, being silly, and keeping her two younger brothers in line — with plenty of love and occasional bossing around. She's also started saying words, and, fittingly, "no" is a favorite. At pre-K pickup, she greets us with a huge smile and her little Harpor shake. We ask if she had a good day, and she announces, "No!" before turning to her teachers and friends, saying "bye!" and walking away. We can't help laughing: she's clearly had a wonderful day, and we're hearing a voice we once weren't sure we would hear.

Life still holds hard decisions and frightening things, including an open-heart surgery ahead. Over time, though, we've learned to spend more of our lives in the day we're actually having: watching Harpor enjoy school, play with her brothers, and make us laugh. We've found understanding in other ZTTK families, and we're still figuring things out as we go. Mostly, we're raising a sweet, sassy, loving girl who brings sunshine into our family. We're so proud of how far she's come, and so lucky we get to be her parents.