In January of 2014 when Taylor and Chad Gurganus had their first child, Talynn, they knew something was wrong. Born at thirty-five weeks, Talynn spent three and a half weeks in the NICU due to respiratory and feeding issues.
During that time, doctors began to suspect she had a genetic condition after testing showed she had partial Agenesis of the corpus callosum (ACC), along with other genetic markers such as a flat nasal bridge, simian crease on both hands, and mild hip dysplasia, to name a few. However, initial chromosome testing came back negative and they were left without answers to the cause of Talynn’s issues.
Reflecting on her daughter’s first year of life, Taylor said, “She was hospitalized every month. The hardest part was being admitted to the hospital and the doctors not having a clue how to help Talynn. My mom and I spent many nights texting back and fourth looking for all types of rare syndromes.”
Taylor recalls going through multiple websites and wading through lists of different syndromes but still not finding answers. It wasn’t until November of that year when they received a call from their genetic counselor saying they suspected Talynn had Bohring-Opitz Syndrome (BOS), did the pieces to the puzzle start to come together.
While having a potential diagnosis was somewhat a relief for the Gurganus family, researching the condition online was another story. With BOS being an ultra-rare syndrome, there wasn’t a lot of information online at the time and some of it was hard to read.
“A lot of what I read was negative and hard to accept. Being told your child only had a 50% chance of survival past age one was not something to be excited about. However, I knew that we would do all we could to make sure this did not define Talynn and we would make sure we made her life enjoyable.” Taylor recalled.
As Taylor began to learn more, she joined the BOS support group on Facebook and found other families going through similar experiences. That was when she met Carrie Hunsucker, and her daughter Hazel, who was diagnosed a few months after Talynn who had finally received an official diagnosis in January 2015. The two moms connected and began sharing information. It wasn’t long before they realized they had common goals leading them to establish the BOS Foundation.
Taylor didn’t want anyone to have to go through the uncertainty that comes with having a child that is undiagnosed. She has made it her mission to help raise awareness so that others can get an accurate diagnosis, hopefully sooner than later. She also strives to share accurate information from the growing research on the ultra-rare syndrome and providing patient/family support, including the positive side to raising a child with BOS.
While BOS is a complex syndrome, there is hope and help out there; something that Taylor has been passionate about educating others. “These children are blessings and it needs to be known,” Taylor said.
One example of how much has changed in the short time since her daughter was diagnosed is that BOS is no longer considered to have a high infant mortality rate, something Taylor struggled with early on. The new finding was announced in April of this year when Dr. Bianca Russell, a leading geneticist in BOS research, presented at a genetic conference. This was a huge finding and something to bring hope to those with BOS and their families.
Taylor also develops patient support and educational materials for the Foundation, including a BOS Key Features Document that contains valuable information for patient families, caregivers, and medical professionals. She joined other moms in the BOS support group to establish an Annual BOS Awareness Day in April and helped organize two Family Meet-Ups in the United States with the Foundation, creating a sense of community that spans across the world.
Another area she focuses on is social media, including her personal blog Talynn’s Journey: Bohring- Opitz Syndrome and Facebook, Twitter, and Instagram for both her blog and the Foundation. It was through Instagram that Taylor had one of the greatest moments where she knew she had made a difference.
She came across a photo of a ten-year old girl who was undiagnosed. Her pictures reminded Taylor of her daughter, and many of the BOS kids, so she took a leap and reached out to her mom asking if they had looked into BOS as a diagnosis. It just so happened they were going through whole exome sequencing (WES) at the time. Because of this, the family took the information Taylor shared to the geneticist to consider BOS as a possible diagnosis.
A few months later, Taylor recalls getting a very excited message from the mom that her daughter had in fact received an official diagnosis of BOS. She explained what a relief it was to finally know after ten years and how important it was to have the support of others in similar situations.
“I knew then I had made a difference for someone in the BOS community,” said Taylor.
She also points out how much the BOS community has grown in the short time since Talynn was diagnosed, “It is crazy to think when Talynn was diagnosed two years ago she was the forty-third patient worldwide, and since then, we have doubled in size.”
Taylor has also gone to Capitol Hill to advocate for those in the Rare Disease Community and continuously looks for opportunities to share her story and knowledge to help others. She has received much deserved recognition as a Rare Disease Advocate by Ostrea Consulting, a leading rare disease advocacy organization, and was a nominee for a RARE Champion of Hope with Global Genes.
While it has been a long journey in a short time, Taylor continues to have a positive attitude that she spreads to other parents. She is always willing to lend a hand by connecting parents and answering questions. “If she doesn’t know the answer, she will connect you with someone who does,” said another BOS mom.
Taylor, who works full-time as a teacher and is now the mom of a second daughter, Tinlee, also credits family, friends, and her local community for being a huge support system for their family.
“Our community is truly amazing. They have done various fundraisers such as a 5k, Benefit Field Trial, to Go Dinners at Church, and many donate directly to Talynn's special needs trust fund. All of these things have allowed us to purchase items for Talynn's needs such as medical supplies, cognitive toys, and the list goes on.”
And the list of families Taylor helps continues to grow. It truly takes a village to raise a child with complex medical needs like BOS. The Foundation and BOS community at large are fortunate to have Taylor on our team.
If you are interested in volunteering for the Foundation, Taylor would love to hear from you at email@example.com.