This piece was originally published by UNC Media Hub

Watching her daughter, Logan, smile and coo in her crib, Brooke Bomar thought her daughter was like a beautiful picture.

“Here’s this perfect little girl, she’s healthy, and she’s happy. What else could you ask for?” Brooke Bomar, Logan’s mother, said.

Suddenly, the perfect picture began to shatter when the Bomars noticed that their six-month-old daughter wasn’t rolling over or sitting up without support like other children around her age.

“It wasn’t too alarming at first because we were like, ‘okay, this is just a guideline, she’ll do it when she’s ready’,” Brooke Bomar recalled. “And then something inside felt like something wasn’t right.”

The Bomars shared their concerns with Logan’s pediatrician, therapists, and specialists who all assured them that Logan was in perfect health—but the Bomars kept looking for answers. This quest for answers would eventually lead to Dr. Ben Philpot at the University of North Carolina’s Philpot Lab.

And through the years as Philpot and the family have searched for new answers and treatments–they have built a strong relationship that extends across the “Carolina family.”

Cameron Shoaf, former partnership services coordinator for Tar Heel Sports Properties, said Logan’s impact on her is indescribable.

“She just has such a spark for life and she’s just such a happy kid and I love to see the smile on her face,” Shoaf said. “You can just tell that she is just so happy to be surrounded by people that love her.”

In 2015, after over one year of anxiously waiting for the results of their genetic tests, the Bomars learned that their daughter is one of 500 individuals worldwide who suffer from Pitt-Hopkins syndrome (PTHS). Only five people in North Carolina have been diagnosed.

Pitt-Hopkins syndrome is an autism spectrum disorder that is characterized as an intellectual and developmental genetic disease that affects speech and cognitive and motor functions. It is a single-gene disorder that is caused by a mutation in the TCF4 gene on the eighteenth chromosome. 

Logan, who is now nine, lacks speaking ability and suffers with gastrointestinal issues, but she has been able to do things that some doctors said she’d never be able to do like walk short distances by herself, count, and identify numbers and colors. She is a lively little fireball that lights up when hears Adam Levine or watches “Frozen.” She comes to life whenever she is around her oldest brother Jack and bursts into boisterous laughter when she hears her younger brother Wesley talk in silly voices in their home in Durham.

PTHS can be treated with speech and physical therapy, amongst other types of therapy. However, due to the rarity of this disease and lack of information surrounding it, researchers and medical professionals don’t have a cure for it—but they are working on it.

Philpot and his researchers at the Philpot Lab at UNC-CH are among those who are working to find treatments for Pitt-Hopkins syndrome. 

“There’s somebody working on our behalf all the time and that is a fantastic feeling knowing that we don’t have to carry that burden ourselves,” David Bomar said. “Knowing that Ben and the [Pitt-Hopkins Research] foundation are out there doing that all the time, it’s really taking a lot off of our plate.” 

The researchers at Philpot Lab are working to develop a gene therapy that would allow the mutated gene to be replaced by one that hasn’t been altered. Researchers would pack the TCF4 gene into a virus and transport it into those suffering with PTHS as a treatment.

“We really feel that for these single-gene disorders, we can make a difference and develop a therapy that can be transformative for these individuals’ lives,” Philpot said.

Through the years, Dr. Philpot has become a close family friend of the Bomars, taking part in some of Logan’s important moments throughout her journey with PTHS.

“I’ve had the pleasure of meeting Logan, she’s just an adorable, wonderful, fantastic individual,” Philpot said. 

In 2017, Logan was given the opportunity to flip the coin at the UNC vs. Notre Dame football game as UNC Health Foundation’s Kid Champion of the day. 

Both of Logan’s grandfathers played football for UNC, as well as her father. She also has aunts who were members of the UNC cheer and dance teams. 

“It’s just great to see how much love they have for and see how accepting they are,” Philpot said. “She’s part of the family, right? Of course they have a lot of challenges in their family, but the way they embrace it is just spectacular.”

Everyone who came to support Logan at the game sported Carolina blue, or T-shirts that were adorned by the “Tar Heels Tackle PTHS” fundraiser logo. On the sidelines of Kenan Stadium, Logan could be seen with her extended family–including Philpot.

“Her face just lit up and she’s got an infectious smile and we could just see tons of teeth and that little sparkle in her eyes,” David Bomar remembered. “We could tell that she understood that something special was going on.”

In the moments before Logan and her parents headed to the center of the field for the coin toss, David and Brooke decided to let Logan hold their hands and walk out onto the field. 

Logan’s legs couldn’t carry her as fast as her adrenaline pumped, so Brooke and David decided to swing Logan with their arms, producing giggles and the biggest smile from Logan. 

When the trio made it to center field, Logan’s big brother, Jack, ran out to join them. Brooke says he and her other brother Wesley have been huge supporters of Logan.

“I’m always taking care of her and if she’s having a hard time, I just try and do the most I can,” Jack, 12, said.

There are so many people who are fighting for Logan, but Logan has proved to be her own champion, her mother says.

“She almost brings me to tears like every week because she is just this little angel that has been placed with us,” Brooke Bomar said with tears in her eyes. “Every day is such a challenge but at the end of the day, she’s just this perfect little thing.”

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