A Voice For Rare Disease Patients

When her son was diagnosed with Canavan disease, Jordana fought for a cure

Earlier this summer, the gene therapy company Myrtelle (pronounced like myrtle) announced a partnership with Charles River and Viralgen Vector Core to commercially manufacture a first-in-class oligotrophic recombinant adeno-associated virus (rAAV) gene therapy treatment for Canavan disease. This 2025 announcement is the culmination of decades of work, that for Jordana Holovach at least, began with the birth of her son Jacob in 1996. 

“At about five weeks, I started noticing that Jacob really wasn't tracking very well,” she said. “He wasn't really attempting to hold up his head, and that was what started us on our journey to diagnosis.”

Jacob was diagnosed with Canavan disease, a rare neurodegenerative disease caused by a mutation on the ASPA gene. The disease results in a buildup of N-acetyl-L-aspartic acid (NAA) in the brain, leading to white matter degeneration and damage to the myelin sheath, which affects the brain’s ability to send and receive messages.

“I like to equate it to telephone wiring,” Jordana said. “Without telephone wiring, we do not receive the message. We do not receive the call, and that's exactly what happens with myelin and white matter. Without it, the rest of our body just does not receive the messages or impulses from the brain.”

In 1996, there was no Internet or social media for Jordana to search for community. It was by word of mouth that she learned of the Canavan Foundation in Manhattan, NY, not far from where she lived. At a board meeting she attended she was handed a letter from Dr. Paola Leone, who at the time had a lab at the Yale New Haven School of Medicine. Paola had been working on translating her potential gene therapy for Parkinson’s disease to Canavan, but there was a problem.

“I spoke with Paula the following day,” Jordana said. “I called her as soon as I woke up that morning. And that was when she told me that her lab was closing, that they had exhausted all of their funding. I said, well, grab that open sign and hang it up outside the lab door because I'm here. I'm on board.”

With the support of family, friends, and expertise from her years of work in marketing, Jordana jumped in the deep end to work on a treatment for Jacob. Her PR and marketing knowledge were key to the success of their endeavor, since without social media, it was harder for rare disease research to gain attention. By advertising at events, gaining celebrity endorsements, and getting a five-page cover feature in The New York Times Magazine, Jordana and Paola gained support for their cause. In 1998, Jacob got his first dose of treatment and was one of the first patients in the United States to receive gene therapy for a brain disorder.

“It was so new, injecting gene therapy into the brains of children, but we had the safety data. We even had some efficacy data. So, we were trailblazing and very proud of it,” Jordana said.

The Jacob’s Cure non-profit was founded by Jordana in 2000, and for fifteen years she worked to support a cure for Canavan disease. In 2015 she passed the organization over to the National Tay-Sachs & Allied Diseases Association (NTSAD) to help manage what had become a very large organization with evolving administrative demands, and Jordana started her own consultancy to help other families in similar situations. In 2021 she joined Myrtelle, bringing over 20 years of rare disease advocacy to their cause.

Sadly, Jacob passed just shy of his 20th birthday. Gene therapy had improved considerably since he was first given treatment, but Jordana was not willing to put him through another round with the advanced state of his disability. 

“I wasn't willing to risk his life at that point,” she said. “And I just said, buddy, we've done what we set out to do and now we must watch and see this through for other children. And that is what we did. I worked with Paola and the Cure Canavan Fund to help them get their protocol and their first gene therapy to the finish line. Everything that we did with Jacob's Cure, we did for the new patients and families.”

With the help of Charles River’s GMP plasmid manufacturing and Viralgen’s GMP vector production, Myrtelle and Jordana are working to make the Canavan treatment more widely available. Drawing from Jacob’s memory, Jordana is determined to help as many families as possible.

“He is with my every day,” she said. “I'm just so proud of him, and I'm proud of what we've done, and I'm proud of never accepting no. And I'm proud that when we were told gene therapy was pie in the sky and to go home and watch Jacob's die, that is not what we did. There are so many patients that I hear from every day, not just from the Canavan community, that feel hope, and without hope there's nothing.”