When motherhood took an unexpected turn into the world of rare disease, Ada Lio transformed from a Type A planner into a community leader—building the very hope she once searched for.
Ada Lio is Lukie’s mom, and a Board Member of the ZTTK SON-Shine Foundation. She is on a mission to accelerate drug development for her son and others with ZTTK. She is eager to change the status quo in rare diseases. Ada Lio has worked in consulting, finance, and sustainability with a focus on understanding consumer behaviors and designing products that serve their needs. Follow her journey on www.Lukie.org
Transcript
I've always been an overachiever, a type A, color‑coded calendar kind of person. The kind of person who built five‑year roadmaps for work, for vacations, even for when to start a family.
So when we were expecting our first child, I approached motherhood like anything else, with research, structure, and a carefully considered plan. I imagined a joyful beginning, snuggling a newborn, bonding as a family, finding a rhythm that lets me balance motherhood with work.
When Lukie was born in July 2022, none of those plans mattered anymore. Within minutes of his delivery, everything changed. Alarms blared. “Code blue,” they shouted. Doctors rushed him away while I lay there, stunned, and helpless.
Lukie spent four weeks in the neonatal intensive care unit. They told us he had a cleft palate. He couldn't feed on his own. He needed a tube through his nose to get nutrition. Every day, I watched him in that incubator and willed his tiny body to eat, to heal.
When we finally brought him home, I told myself, “We made it through the storm, and now we can just be parents,” but it didn't get easier.
As the months went on, Lukie missed milestones. He wasn't rolling, sitting, or babbling. I tried to stay calm. I told myself, “Hey, every baby has her own timeline.” Then, at seven months, we got a call with the result of his genetic test whole exome sequencing. Lukie was diagnosed with the genetic condition, ZTTK Syndrome.
I had never heard of it, neither had most doctors. It was ultra rare, fewer than 60 documented cases. No treatments, no care guidelines, no prognosis, just a name.
I ended that Zoom call and sat in tears. Then I did what every parent is told not to do. I Googled. I stayed up all night going down rabbit holes of medical journal articles and rare disease blocks. There were no roadmaps, no answers, just an ocean of uncertainty. My world shattered.
Lukie underwent surgeries. He got a feeding tube placed in his stomach to help him eat. He needed multiple therapies every single week: physical, occupational, speech, feeding. Goes on and on. I became his nurse, his therapist, his manager, while still working full‑time.
Our living room became a therapy center with medical equipment, syringes, and supplies. Our calendar was filled with appointments instead of baby milestones.
And the grief, the grief was quiet, invisible. Just the loss of the life I thought I would have.
Every night I sat in the dark asking, “How do we help him? What else can we do?”
The question led me to a turning point in the fall of 2023, and the other parents in the rare disease space. One mom was leading drug development efforts for a child's condition. She's not just sitting there waiting for research and treatments to just come to her.
Then it hit me. What if I didn't have to wait for help? What if I could build the future I needed?
That same month, my husband and I joined the ZTTK SON‑Shine Foundation, the only global patient advocacy group for Lukie's condition. Soon, I wasn't just asking questions. I was helping launch a patient registry. I was learning about the science, the possibilities, organizing fundraisers, finding other families.
I had no background in rare disease, but my background in business, in working with different stakeholders across for‑profit, nonprofit, and my analytical skills all came into play. I knew how to ask questions, I knew how to build community, and I knew I had to try.
In just a few months, our efforts gained momentum. We were awarded at $800,000 grant from the Chan Zuckerberg Initiative. We built stem cell models to help researchers study the disease. We hosted global fundraisers connecting families from six continents to join our cause.
And something else changed. I no longer felt alone. Other families began reaching out, newly diagnosed, distressed, searching. This time, I could offer more than sympathy. I could offer direction and hope.
The past summer, we hosted the first ever ZTTK family and science conference in Boston. Over 150 participants, including families, children, clinicians, scientists all in one room. As the leader of the foundation, I stood at the podium, looking out at a sea of parents who knew what it meant to live in medical uncertainty. And for the first time, I didn't just feel like a parent trying to survive. I felt like part of something bigger.
This is not the motherhood story I imagined, but it is one I am proud to live. I lost a story I have planned for myself, the one with balance, predictability, control. In its place, I found something else, purpose, connection, and community.
Lukie still cannot speak, but his story already is. And in those quiet moments when I see him smile, or reach for his favorite book, I remind myself, I am not waiting for hope. I am doing it.