Tea party reunion marks milestone in treatment of rare genetic disorder

When researchers found a way to use gene therapy to successfully treat GM1 gangliosidosis in mice and cats, it gave Dr. Tifft and her team hope enough to try the same treatment in humans.

Jojo was the first patient to receive gene therapy for GM1 gangliosidosis, and there were many unknowns involved.

“We had never done this before, and we didn’t know what was going to happen,” said Dr. Tiff. “This was the first in-human trial.”

Three years after her gene therapy trial, Jojo (now 13 years old) sits in her chair and smiles as the room fills with people who came to join her tea party. Before she received gene therapy, she couldn’t sit up or feed herself.

“As a mom, I was living in fear every day,” said Jojo’s mother, Lei. “I was worried that I would lose here. After gene therapy, she’s much happier, and she’s getting stronger each day. She’s no longer in pain.”

Lei smiles as she counts the ways Jojo’s personality shines now.

“She likes to go shopping, and she likes to stay up late. She even negotiates with us about the kind of clothes she can wear.”

“The difference is night and day,” said Jojo’s father, David. “Looking at the girl she was before and how she is now, I don’t see how she would be where she is now without the treatment.”

When Jojo grabs a chip with her fingers and puts it in her mouth, Dr. Tifft beams. Jojo had previously lost the ability to feed herself before her treatment. But today is different.

“The things she can do and the quality of life she has now — it’s such a big change,” said Dr. Tifft.

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