A to Z Gives Back: Thisbe & Noah
I can’t imagine losing a child. I don't even want to think about it. But if that unimaginable, unthinkable happened, I don’t know that I could get out of bed. . .ever again.
Laurian and John Scott lost not one but two children within a year of one another to a rare neuromuscular disease known then as BVVL. Thisbe was almost 3 when she lost her battle to this cruel illness that took her ability to speak, swallow, breath, hear and move, but left her brain untouched so that she was completely aware of her slow paralysis. Her brother Noah, who began to show symptoms of BVVL less than two months after Thisbe died, was 19-months old when BVVL took his life.
In 2008, just a couple months before they lost Noah, Laurian and John created a foundation, now known as The Thisbe and Noah Scott Foundation, to raise money to research this vicious disease about which doctors knew little or nothing.
“We continued to search for treatments that we hadn’t been able to give Thisbe,” Laurian writes on the TNSF Web site, “and when they seemed to be failing we moved on to another path: finding the gene responsible for BVVL.”
If they found the gene, they were told they would find help.
“My last hope was that [Noah] could hold on long enough for us to find that help,” she says.
It was, sadly, too late for Noah, but John and Laurian kept going. They channeled their excruciating pain and debilitating grief into getting answers. And they didn’t stop. Within two years, with the help of the Scotts, researchers discovered a gene linked to BVVL, which is now being called Riboflavin Transporter Deficiency (RTD). This discovery led to the birth of Ovid and Hattie, the Scott’s twins, who were the first children ever born via pre-implantation genetics for the BVVL gene. Identifying the gene, as the Scotts were told when they so desperately sought answers to save Noah, also opened the door for finding a treatment. In 2016, the findings from four years of TNSF-funded research with Kevin Eggan, Ph.D., Associate Professor of Stem Cell and Regenerative Biology at Harvard University, were published to Human Molecular Genetics. They represent a breakthrough in the fight against RTD and other pediatric neuromuscular diseases. Riboflavin supplementation is reversing the effects of RTD for some children. However, other children with distinct mutations are not responding. TNSF continues to fund research to find additional treatment options and work toward the development of a newborn screening test. Such a test would ensure early treatment intervention to prevent serious problems or even death.
In addition to the $550,000 that TNSF has donated to BVVL/RTD research, TNSF granted $30,000 to the Batten Disease Support and Research Association to research these rare diseases. Finally, most recently, TNSF created a new program that offers travel grants to families who have children with pediatric neuromuscular diseases. The grants enable these families to attend conferences for their child’s disease, and the conferences provide answers, hope and a sense of community. To date, TNSF has awarded 11 grants, and the need to help more families attend conferences is apparent by the number of applicants TNSF has received.
The Scott’s story is both heartbreaking and inspirational. And it became personal for me when I met Lindsay Ballew, sister to Laurian, aunt to Thisbe and Noah, and the executive director of TNSF. I got to know Lindsay first as an instructor at Bar Method, where I regularly attend classes, and then as a mom because our boys are on the same soccer team. She’s personable and kind. She’s one of those people that radiates warmth, yet exudes a quiet confidence. In a bar class, she makes you want to work harder. And when she’s working to raise money or spread awareness about pediatric neuromuscular diseases, she’s driven by a passion-fueled adrenaline that is simply contagious.
Three years ago, I volunteered to be a part of the committee that puts on Music and Masterpieces, TNSF’s annual Nashville fundraiser, and I’ve been helping with it ever since. There are countless good causes out there. There are also countless diseases that unfairly take the lives of children long before their time. They all need a TNSF. For me, this foundation represents hope. It represents a grassroots effort launched by a family who channeled the unimaginable into saving lives. I’ve seen firsthand how much work goes into TNSF and how much this foundation has been able to do for other families who are blindsided by BVVL/RTD or similar diseases. I simply cannot walk away.
A to Z Children's Books joined an amazing group of sponsors to help TNSF put on Music & Masterpieces, the foundation's annual Nashville fundraiser, on August 24. There's still time to help us support the Scott family as they continue their mission to save lives by promoting research, awareness and support for children and families affected by pediatric neuromuscular diseases. Contact Lindsay Ballew at firstname.lastname@example.org if you or your organization can sponsor at any level. Two Children. One disease. Their voices inspire thousands. May their legacy cure millions.