AUSTIN (KXAN) — Eighteen-year-old Isaac Jacobs is, by all accounts, a soccer enthusiast. So when his mother, Bene Williams, surprised him with a trip to Austin FC’s home game Saturday, he thought that was the cherry on top.
Then, the drums came out.
La Murga de Austin, an Austin FC fanbase and musical group, performed a rendition of “Happy Birthday” for Jacobs Saturday that has since gone viral online. But those two minutes will linger in Williams’ mind long after the video’s virality dies down.
For Williams, the moment marked a time where Jacobs was just another kid — not someone limited by others’ perceptions of his disability.
“Every now and then you find a rare angel on Earth that’s willing to take a moment to talk to him, engage with him, and see him just for Isaac, and not for his condition or not for the chair that he’s bound to,” she said.
Jacobs was born prematurely and exhibited some developmental delays early in life. However, it wasn’t until he was a toddler that pediatricians and neurologists began searching for a more formal diagnosis.
After an initial misdiagnosis of cerebral palsy, Jacobs was diagnosed at age 4 with Lesch-Nyhan Syndrome — a rare genetic disorder that affects less than 10 babies born each year.
The majority of LNS diagnoses are found in boys, with symptoms including severe gout, limited muscle control, developmental delays, kidney problems and swelling in the joints. The most characteristic trait of LNS is self-mutilating behaviors, such as extreme lip and finger biting.
In the 14 years since his diagnosis, not much progress has been made in the LNS field, Williams said. Even more so, doctors and other specialists often have limited knowledge of the condition and how to interact with patients diagnosed with it.
“As far as the medical field is concerned, the doctors so rarely come across a patient — either in school that they’re just learning as a research or that they actually physically get to meet a patient with Lesch-Nyhan — that they’re not familiar with this landscape,” she said.
Williams said she’s come to rely heavily on in-person and virtual support groups, especially the online LNS group “Love Never Sinks.”
“Love Never Sinks has been a huge resource, not only for myself, dealing with this for 14 years now, but also for new parents that are coming onto the scene,” she said. “They can connect with other parents across the world — not just in the United States — to share our stories, failures and successes, what works, what doesn’t work.”
The group also opened Williams up to ongoing fundraising efforts for Hope for a Cure, an ongoing gene therapy research fund at the University of Pennsylvania’s Penn Medicine Orphan Disease Center. The group has organized a GoFundMe to help support its efforts and assist in finding lifesaving measures for children like Jacobs.
In addition to her virtual support group, Williams credits her “village” — her friends, neighbors and family members — who have shown unconditional love and support for Isaac. And that’s where Saturday night’s serenade comes into play.
Williams coordinated with her neighbors on Isaac’s surprise trip to Q2 Stadium for the Austin FC home game, right down to the hidden jersey presented to him in the video. What she hadn’t anticipated was the band taking that surprise to the next step with an impromptu serenade.
“He got to just be a normal kid at that moment and enjoy something that everyone else gets to enjoy,” she said. “So to have the band take it to that next step, it was like, ‘hey, let’s pull some players together, we’re gonna sing him happy birthday.’ Like, I’m crying, recording this happening.”
For parents of children with genetic disorders, Williams said traditional milestones like birthdays can be difficult to celebrate. Sometimes, she said they can exist as reminders of all the opportunities children with rare diseases won’t have, or the restrictions their conditions have placed on them.
During those two minutes on Saturday night, Williams didn’t think about the past year’s worth of emergency room visits, medical appointments, prayers and fundraising for gene therapy research. She saw a smiling, happy boy celebrating his 18th birthday by doing what he loved.
“In that moment, it was simply people being kind and choosing kindness, and acknowledging him for just being Isaac,” she said.