Dr. Erin AhnIn 2016, the rare disease Zhu-Tokita-Takenouchi-Kim, or ZTTK Syndrome, was discovered by Erin Eun Young Ahn, Ph.D., a professor in the UAB Department of Pathology’s Division of Molecular and Cellular Pathology, alongside her research team.

ZTTK is primarily identified in children and is characterized by intellectual disability, delayed musculoskeletal development and multi-organ anomalies, and is caused by loss of function in the SON gene. This gene creates a DNA and RNA binding protein, SON, that is required for the body to grow and develop naturally.

Ahn has studied SON since the early 2000s. After the discovery of ZTTK, she co-founded the ZTTK SON-Shine Foundation in 2021 to provide a community of support among newly diagnosed patients and their families. Since then, the number of patients diagnosed globally has risen to an estimated 450.

“My research is no longer just about cells and molecules,” said Ahn. “It’s about real people who are waiting for answers.”

Enter Miles Santulli, a spunky two-year-old who was diagnosed with ZTTK Syndrome late last year.

Mike, Miles and Kim SantulliKim Santulli, Miles’ mother, said, “In most ways, Miles is a normal toddler. He loves swimming, listening to music and watching Ms. Rachel videos.”

After his family noticed several concerning symptoms such as cognitive delays, loss of muscle mass, and issues gaining weight, Miles went through multiple genetic panels before receiving his diagnosis.

“Our geneticist told us Miles had been diagnosed with ZTTK syndrome, but because it’s so rare, most doctors have limited knowledge about the syndrome itself. It was scary having so many questions and so few answers.”

“I began researching ZTTK and found the ZTTK SON-Shine Foundation immediately. I must have read through the entire website at least ten times the day of his diagnosis,” Santulli said. “I was still scared but also comforted knowing we weren’t the only ones going through this and that some of the big medicalMiles Santulli questions we’d had for so long could finally be tied to ZTTK.”

Santulli didn’t stop there. She is now an active member of the ZTTK SON-Shine Foundation’s Board of Directors and Caregiver Facebook Group for families caring for children with ZTTK. The foundation, in addition to providing support for families, is now also dedicated to improving the lives of individuals with ZTTK by accelerating research to develop accessible and effective treatments, and ultimately, find a cure.

“Finding the ZTTK SON-Shine Foundation has been the best resource for learning more about Miles’ disorder, but more importantly, it has given us a worldwide community to love and lean on.”

Kim and her husband, Mike, will be hosting “Walking for Miles” on Sept. 21, 2025, near their home in Prospect, Connecticut. Kim hopes to raise $10,000 from the walk for the ZTTK SON-Shine Foundation to help find a cure for the genetic disorder, which currently has no treatment.

“Meeting children and young adults affected by ZTTK in person completely changed how I see my work,” Ahn said. “Holding their hands, seeing their bright smiles, and listening to families share their concerns and hopes made everything personal for me.”

Photos courtesy of Kim SantulliAhn and Santulli recently met for the first time in person at the inaugural ZTTK Community Conference in Boston, Massachusetts. The conference theme was “Uniting Families, Fueling Research” and brought together more than 150 members of the ZTTK community from around the world, marking a historic milestone of connection and hope. Ahn delivered a special lecture designed for families, translating the biology of the SON gene and ZTTK into accessible language.

“Research like Dr. Ahn’s is extremely important for patients and their families because we still know so little about ZTTK,” Santulli said. “The more they learn, the closer we get to real treatments that will make a huge difference in patients’ lives.”

“I do my research so the patients with ZTTK and their families can have the best, happiest, fullest lives,” Ahn said. “This gives me the strength to keep pushing forward, even when the research gets challenging.”

September is ZTTK Awareness Month. You can learn more about Walking for Miles, the inaugural fundraiser event, and donate to the ZTTK SON-Shine Foundation here.

“ZTTK research gives families like ours hope that one day our children will have more treatment options and support,” Santulli said. “Miles deserves to live his best and most independent life, and I fully believe research like Dr. Ahn’s is the key to a life like that for him.”