Setauket mother helps develop drug for son's rare genetic mutation, launches foundation for others

When he was 4 months old, Leo Wei Church was diagnosed with a gene mutation so rare that his doctors say he is one of two people in the world with this diagnosis.

He would bounce between acting like a newborn and 4 months old, said his mother, Yiwei She, and he could not hold his head up. Often, She would look at her baby and it seemed like nobody was inside.

After his diagnosis in February 2022, She spearheaded a process to develop Leo specialized medication for his mutation, including research, engineering and getting the drug approved by the FDA within approximately a year. Now, her foundation, TNPO2 Foundation, aims to recreate this process for other families with ultrarare diagnoses.

“The bigger goal of this project is to go beyond the diagnosis and to really help families move forward when, for almost all of these diseases, there’s no FDA-approved option,” said She, a 35-year-old mother of two from Setauket.

This summer, the TNPO2 Foundation will launch Project Baby Lion, which will collaborate with Stony Brook Children’s Hospital’s NICU, genome sequencing technology from Rady Children’s Institute for Genomic Medicine in San Diego and funding from the foundation to figure out ways to treat and provide health care to other children with rare genetic mutations.

The foundation is named after the Transportin-2 gene, which helps move certain proteins into the nucleus of a cell. For Leo, a copy of this gene was mutated, causing frequent seizures and developmental delays.

For the first few months of his life, Leo’s diagnosis was a mystery. Even before he was born, ultrasound technicians noticed his head was small, and although the doctor did not seem alarmed, She felt a pit in her stomach.

At 2½ months, She was lulling Leo to sleep in her arms, sitting on her bed, when his arm started to jerk, and it turned into a full-blown seizure.

She took him to the ER, and soon afterward, Boston Children’s Hospital had enrolled him in a clinical trial for epilepsy. It wasn’t until they did genome sequencing that the hospital realized the true cause.

She jumped into action, calling other patients with rare genetic diseases. Their advice: “Try to own as much of the process as you can.” That is how the foundation started.

The TNPO2 Foundation partnered with Creyon Bio, a biotechnology company that helped create the medicine, named “Leosen,” after Leo. One year later, after submitting an application to the FDA, Leo received his first dose.

Dr. Nicole Coufal, a pediatric ICU doctor at Rady Children's Hospital, had never taken on a project that aimed to create medicine for a rare genetic mutation. She recommended other physicians to She, but when they all turned down the case, she stepped up herself. 

“I took it on as a learning experience. And I took it on because I really wanted to help them, and I really felt for them,” Coufal said. She didn't realize how much work it would be, between testing for toxicity in the drug, picking the right version to administer, dealing with paperwork, the FDA and all of the bureaucratic steps. 

“What I've learned is how much infrastructure it would really take to be able to do this in an efficient way,” said Coufal, which is what She is trying to accomplish with Project Baby Lion.

As head of the foundation, She put over $1 million into finding Leo's treatment, uninterested in fundraising from others.

“It didn't feel right taking money from people who had less than us to work on his disease,” said She, a former academic mathematician and a founding engineer of a technology company, Landing.AI. 

She always feared that this never-before-used medication could not only be unhelpful, but could harm Leo.

“What was pulling me along was the hope that it could have a positive benefit for him,” She said.

Meanwhile, She also was raising her daughter, Anna, who is more than a year older than Leo.

“The baby is tiny and weak and we have to be careful with him,” She would tell her daughter, worried Anna was taking on too big a role in Leo’s “care team,” identifying her brother's seizures and trying to help out.

Soon after the first dose of Leosen, he showed improvement.

“If there’s any lessons to be learned, help the next family,” She said.

After only a few months, his seizures became less frequent. Now Leo can hold his head up for tens of minutes. He pays attention to his surroundings, he is more alert than ever and he is starting to babble like the 2-year-old he is.