Francesca Pauca attends Princeton University and is majoring in psychology. She will return home after graduating from the Ivy League school to help care for Victor. It’s a life path many wouldn’t consider, but that she says has always been the plan.
Victor Pauca, 18, is living with an incredibly rare condition. When he was 6 months old, his mother, Theresa Pauca, noticed he wasn't reaching his developmental milestones and began searching for a diagnosis.
That journey took the North Carolina family to a destination none of them could have anticipated. In 2007, when he was 2, Victor became one of the first people in the world diagnosed with Pitt-Hopkins syndrome.
Pitt-Hopkins syndrome (PTHS) is a rare genetic disorder characterized by developmental delays, according to the Pitt-Hopkins Research Foundation. Individuals with PTHS deal typically deal with epilepsy, gastrointestinal issues, lack of speech and severe cognitive impairment.
Victor’s mother says the diagnosis shocked her and her husband.
“Just devastating,” Theresa tells Inside Edition Digital. “I mean, both of us just felt like this dark cloud had settled down over us. When we would have good things happen to us, we'd think, ‘Oh yeah, but Victor has Pitt-Hopkins syndrome.’ It took a couple of years.”
But caring for Victor became a part of life for his family and a role that they readily share.
“Different people take on different tasks, and one by one, we pick it all up, and do it together,” says Victor's sister, Francesca.
Tasks include helping Victor get out of bed, bathing him and washing his hair. His family also ensure the several machines that help keep him healthy are up and running. “He has a vest that essentially shakes him,” Francesca explains. “It inflates and shakes him to kind of just shake up the phlegm in his lungs.”
He also uses a cough assist machine, inhalers, machines that suction saliva, oxygen, and a pulse oximeter.
Victor also takes several medications that are administered by tubes and syringes and has been fed by feeding tube ever since his ability to ingest food diminished when he was younger.
“He has four feedings a day,” Francesca says. “He takes a formula called Kate Farms. He can't eat or drink anything by mouth. He has dysphasia, so it will go down the wrong pipe, essentially."
The transition away from food was an adjustment for the family. “We had to realize that that wouldn't make Victor's life less fulfilled or less wonderful. It would just be different," Francesca says. “He used to really like to put his little hand in a bag of chips and eat some from that. So we don't have bags of chips at home (anymore). And we try to avoid that just because we don't want him to think, ‘Oh yea, that's what I used to do.’"
Like many living with PTHS, Victor is nonverbal. Francesca says they are still able to communicate with each other using noises, hand signals and facial expressions. The family is unsure of Victor’s cognitive level because it’s hard to measure given his speech and motor difficulties. But they say they communicate with him as they would with anyone else his age.
“He has all sorts of other ways of being that other people wouldn't honestly understand," Francesca says.
The young woman proudly speaks of her brother, who she notes has many hobbies, is an excellent artist and is very sensory-oriented.
“He loves to see things that spin, or make noise, or light up, or even move in the wind,” she says. “He loves flags. He often likes to reach out with a desire to touch those things, feel the sensation of the spinning or the music or something even vibrating. And he really tends to explore his environment all the time.”
The time Francesca spends with her brother is inspiring. “He encourages me to notice, and take account of every little thing. For example, to listen to water running or to feel that sensation," she shares.
Individuals with Pitt-Hopkins syndrome have distinctive facial features and are usually small in stature.
“A lot of those features characteristic to Pitt-Hopkins contribute to his beauty,” Francesca says. "My family has referred to Pitt-Hopkins syndrome as ‘Pitt Handsome’ syndrome just because so many of the children with Pitt-Hopkins end up being really cute, or handsome or beautiful.”
Much of life for Francesca centers around her brother, and she plans to continue down that path for life. Francesca attends Princeton University and is majoring in psychology. She will return home after graduating from the Ivy League school to help care for Victor.
“It's the only life I know,” she says. “I also just kind of prefer being with Victor, and I prefer our lifestyle of spending time together.”
Their sister Sofia, another Princeton grad, has chosen the same caretaking path.
“My sister and I decided from a young age that we wanted to be Victor's lifelong caregivers,” Francesca says. “Since my sister and I were in elementary school, we started talking about and planning what our lives would be like as Victor's caregivers in the future.
"Caregiving for Victor makes me very happy," she continues. "And I'm so lucky to have the resources to be able to care for him in a way that fulfills me. I wouldn't want others to think that I won't be enjoying the time of my life when I'm with Victor. Because I've realized that it's completely possible to love your life and to create a beautiful life for yourself in any circumstance."
Knowing that Victor's health has at times in recent years been on the decline has also made choosing to spend as much time with him as possible the best decision for Francesca.
"He's gotten fairly sick, very sick, honestly, in recent years,” Francesca says. “He has a disability that can cause complications, that can be life-threatening. He has a lot of severe GI issues and allergies that are life-threatening as well.”
She has zero regrets about her decision.
“I recognized, ‘Oh, I feel very different from my peers’ because I know I have different experiences," she says of the decision she and her sister made when they were young. “And while those experiences that I might enjoy at 21 years old, like dating, and partying, I do that, too. And caregiving for Victor doesn't hold me back from that.
“And I think that's really special that I have the opportunity to be able to do all of these things and be my brother's best friend, too," she continues. "At the end of the day, I do know what is most important to me, and that's spending time with my brother while he's here and making the most of that and making the most of my life.”
She and the rest of her family have made it their mission to educate others about PTHS and ultimately went on to cofound the Pitt-Hopkins Foundation.
“Starting the foundation was feeling like we were going to do something instead of have something really hard happen to us. ‘OK, well what can we do about it?’ And so that helped us a lot to dive into that,” Theresa says.
Francesca also recently began sharing Victor’s journey on social media.
“I wanted some of my friends to be able to better understand me and some of that I was able to capture in this creative way. And my life at home is just so different and it's really hard for me to explain in words," she says.
She said the experience has been a blessing.
“When Victor got very sick this fall, I shared a wish list of the things that he wants," she says. "Within just a few hours, everything was bought. Victor has had his life enriched so much by the social media page.
But Francesca’s primary goal in sharing Victor's life on social media is to educate others on how fulfilling caregiving can be.
“They can see that caregiving is actually beautiful, and it wouldn't be a sad life after all," she says. “I want families like mine, people with disabilities, families that are going through hard times, caregivers, really everybody who is having a struggle. I want them to know that the work that they're doing, especially caregiving, is important and it's beautiful and that it's appreciated.”
She also wants people to know that even though Victor’s life isn’t typical, it’s not any less fulfilling.
“I hope people know that he understands so much," she says. "And even though it's very easy to underestimate someone who you can't verbally communicate with, if you just give him a chance as over 150,000 people have online, he can change your life with positivity as he has done for me.
“His life isn't worse, It's only different," she continues. "And I realize that Victor isn't on my same path, he's actually on the road less traveled. And there's something really beautiful about that.”
