AUSTIN (KXAN) – Isaac Jacobs, 18, is widely believed to be an avid footballer. So when his mother, Bene Williams, surprised him on his way to the Austin FC home game on Saturday, he thought it was the icing on the cake.
Then the drums came out.
Austin’s La Murga, a fan base and musical group from Austin FC, performed a rendition of “Happy Birthday” for Jacobs on Saturday who has since went viral online. But those two minutes will stay on Williams’ mind long after the video has gone viral.
For Williams, that moment marked a time when Jacobs was just another child – not someone limited by others’ perceptions of his disability.
“Every once in a while you find a rare angel on Earth who is 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 he is in. bound. ” she said.
Jacobs was born prematurely and developed developmental delays early in his life. However, it wasn’t until he was very young that pediatricians and neurologists began to look for a more formal diagnosis.
After a first misdiagnosis of cerebral palsy, Jacobs was diagnosed at the age of 4 with Lesch-Nyhan syndrome – a rare genetic condition that affects fewer than 10 babies born each year.
The majority of diagnoses of LNS are found in boys, with symptoms such as severe gout, limited muscle control, developmental delays, kidney problems, and joint swelling. The most characteristic trait of LNS is self-injurious behaviors, such as extreme biting of the lips and fingers.
In the 14 years since her diagnosis, little progress has been made in the area of LNS, Williams said. More so, doctors and other specialists often have limited knowledge of the disease and how to interact with patients diagnosed with it.
“As far as the medical field is concerned, doctors so rarely meet a patient – either at school that they learn just as a research or that they actually physically meet a patient with Lesch-Nyhan – that they are unfamiliar. with this landscape, ”she said.
Williams said she relies heavily on in-person and virtual support groups, particularly the online LNS group “Love Never Sinks”.
“Love Never Sinks has been a huge resource, not only for myself, who have been dealing with this for 14 years now, but also for new parents entering the scene,” she said. “They can connect with other parents around the world – not just in the United States – to share our stories, our failures and our successes, what works, what doesn’t.”
The group also opened Williams to ongoing fundraising efforts for Hope for a Cure, an ongoing gene therapy research fund at the Penn Medicine Orphan Disease Center at the University of Pennsylvania. The group hosted a GoFundMe to help support their efforts and help find life-saving measures for children like Jacobs.
In addition to his virtual support group, Williams credits his “village” – his friends, neighbors and family members – who have shown unconditional love and support to Isaac. And that’s where the Saturday night serenade comes in.
Williams coordinated with his neighbors on Isaac’s surprise trip to Q2 Stadium for the Austin FC home game, right down to the hidden jersey he was shown in the video. What she hadn’t planned was for the group to take this surprise to the next level with an impromptu serenade.
“He just has to be a normal kid at the time and enjoy something that everyone can enjoy,” she said. “So for the band to take the next step, it was like, ‘Hey, let’s get some players together, we’re going to sing a happy birthday to him. “Like, I’m crying, recording what’s going on.
For parents of children with genetic disorders, Williams said traditional milestones like birthdays can be difficult to celebrate. Sometimes she said they can exist to remind all of the opportunities that 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 value of last year in emergency room visits, doctor’s appointments, prayers, and fundraising for gene therapy research. She saw a smiling and happy boy celebrate his 18th birthday by doing what he loved.
“At that time, it was just people who were kind and chose kindness, and recognized him to be just Isaac,” she said.