Proffitt Family Faces Rare Genetic Disorder with Strength, Generosity

Written by Kevin Green | Photos by Peak RES

In September of last year, Jackie Proffitt — a real estate professional for Proffitt Premier Home Team at Keller Williams Realty Advantage — and her family faced an unexpected and devastating event.

Kiley Proffitt, Jackie Proffitt’s daughter-in-law, was set to deliver her son, Jack, via a scheduled C-section. The atmosphere was festive, with the family eagerly awaiting the new arrival.

However, complications arose immediately after Jack Proffitt’s birth.

He didn't breathe, and his heart wasn't functioning properly. The medical team acted swiftly, placing the newborn on various life-support systems, including ECMO, as they searched for answers.

For weeks, the Proffitt family endured a fog of uncertainty.

“We were waiting to go have a party, but it was immediate that somebody was in the hall going, ‘We're in trouble, come back here,’” Jackie Proffitt said. “I thought, ‘What do you mean we're in trouble?’ He (Jack) didn't breathe, and his heart wasn't working. Nobody knew why for weeks, and he was on just about every kind of life support you can have.”

Three weeks after his birth, genetic testing revealed Jack Proffitt had mutations on the ARS2 gene causing a rare form of mitochondrial disease.

This diagnosis explained his critical condition and why his lungs and heart struggled to function. Despite being on life support, the infant’s body couldn’t generate the energy it needed to sustain itself once the machines were removed.

“The majority of the population carries some mutations, that's not abnormal,” Kiley Proffitt said. “What happens is if you have a child with someone that shares a mutation with you and it's a recessive gene, there's a 25% chance of each child being fully affected. My husband Jake and I found out through our testing that we both carry a mutation on the ARS2 gene.”

COPING WITH TRAUMA

The moments following Jack Proffitt's birth were chaotic and traumatic.

Kiley Proffitt, still on the delivery table, sensed something was wrong when her son didn’t cry. Her husband, Jake Proffitt, was led into another room under the impression he would meet his son, only to find Jack Proffitt intubated and fighting for his life. They were quickly sent to the NICU.

Kiley Proffitt, left alone in the delivery room, felt disconnected from reality, staring at the hospital lights in disbelief.

“It felt like a dream because it was so shocking,” Kiley Proffitt said. “It wasn't supposed to be that way. I hear ventilator and brain damage and all that, essentially all of the worst things that you could hear. I was just like, ‘What is going on?’ I was so confused …  I really thought, ‘Did I enter a different world? Someone wake me up. This is all going to change in a minute.’”

The NICU team began running many tests. Although they revealed Jack Proffitt was sick, there were still no answers as to what was causing his complications. Because of this, the family received minimal information initially, adding to their distress.

Jackie Proffitt recalled the confusion and helplessness they felt, comparing it to being in a surreal movie.

“We sat in that room for about two hours after that moment and never heard a word from anybody,” Jackie Proffitt said. “You're just sitting there going, ‘What is going on?’ You can't fix it. It's just a constant effort of trying to process stuff, and we did that for seven weeks … We had little victories that made us kind of think maybe things were going to be better, especially in those first two or three weeks when we didn't know what was going on. Nobody had an explanation.”

For seven weeks, they experienced fleeting hopes and devastating setbacks as medical staff attempted to wean Jack Proffitt off life support. Eventually, the difficult decision to remove life support was made as it became clear his condition was not improving.

GRIEVING AND FINDING PURPOSE

The decision to let Jack Proffitt go was excruciating but necessary.

Kiley Proffitt described the final days as his body grew more tired and the moments of resuscitation became more frequent.

"Kim Beeler, the NICU bereavement coordinator for Oklahoma Family Network, had stopped by to visit with me one day," Kiley explained. "We discussed the unimaginable, end-of-life decisions we were likely facing. I was inspired by her strength as she, too, had lost a child after a lengthy NICU stay. She gave me comfort knowing I was not alone and that, as Jack's parents, we knew the best for him."

Thanks to the nurses and care team, the Proffitts were able to celebrate one holiday with Jack — he was a lumberjack. It is one of their most-adored NICU memories.

“Jack grew very tired, and there were moments where they were having to revive him even when he was on a ventilator,” Kiley Proffitt said. “It wouldn't last long, and things would be calm for a few hours. Then it was just, ‘OK, we're not going to keep going and keep watching him get worse and worse. We didn’t want that. It was a very hard decision to make.”

After Jack Proffitt passed away at seven weeks old, the family was left to grapple with profound grief and loss. In the face of their sorrow, the family sought ways to honor his memory and support others going through similar experiences.

They became involved with CureARS, an organization dedicated to helping families affected by rare genetic disorders like ARS mitochondrial disease. This support network was invaluable, connecting their doctors with specialists who provided critical insights and advice.

“They helped us tremendously while we were in the hospital,” Kiley Proffitt said. “Over the last few years, they have created their own network of doctors and hospitals that specialize in mitochondrial issues and have funded crucial research for treatments and a cure. They were able to get our doctor here at Saint Francis in contact with other doctors to ask questions and look into trial drugs. Jack wasn't ever stable enough to be transferred to one of those hospitals, unfortunately, but they were a big help. We've worked with them for fundraising however we can to support their mission because it's close to home.”

NAVIGATING LIFE AFTER LOSS

Work became a refuge for Jackie Proffitt during this difficult period.

The support from her colleagues at Keller Williams Advantage allowed her to maintain her professional responsibilities while dealing with her personal loss. Staying busy with work provided a sense of normalcy and purpose, helping her cope with the emotional turmoil.

“I had deals going when Jack was born, but this office is phenomenal about support,” Jackie Proffitt said. “People are just really willing to pick up the pieces and go with it, so I really wasn't worried about any of my deals getting closed or anything. As those seven weeks went on, having work as a distraction was a good thing — working in the mornings and then going to the hospital in the afternoons. I still like to stay really busy. Work is a great thing to occupy me, and I love what I do, so that helps.”

Kiley Proffitt channeled her grief into action by founding Jack’s Generosity, a nonprofit that sends gift boxes to NICU families.

These boxes are thoughtfully curated to provide comfort and support to parents and patients in intensive care units. Jackie and Kiley Proffitt found healing in this work, turning their tragedy into a mission to help others.

“That’s been our healing — trying to do something else,” Jackie Proffitt said.

Jake, Kiley Proffitt’s husband, also found solace in supporting others through their nonprofit.

Despite his struggles, he remained a pillar of strength for his family. His role as a bonus dad to Lawson, Kiley Proffitt’s 10-year-old son, provided him with a meaningful way to channel his fatherly instincts.

“Lawson keeps us busy and laughing and smiling in his own little way. He continues giving us much joy and purpose,” Kiley Proffitt said. “I think Jake has found joy, too, like me. When we started talking about wanting to create our own nonprofit, it was fun to discuss ideas of what that would look like, what we wanted to do and how we wanted to support families in some way. He's enjoyed playing a role in that.”

CHOOSING HAPPINESS

The Proffitt family’s journey through this challenging time is a testament to their resilience and dedication to helping others.

Through their involvement with CureARS and the creation of Jack’s Generosity, they have transformed their grief into a force for good, supporting families facing similar battles and honoring Jack Proffitt’s short but impactful life.

"Choosing to find happiness after going through this type of loss is hard and continuous work," Kiley Proffitt said. "I'm sitting here smiling in front of you as we talk about this today, but it doesn't always look like this. No one's grief recovery looks the same; you have to find what works, and that can be different day-to-day.

“If that's donating to an organization, helping other people or whatever it is, you have to figure out what works for you and keep showing up.”

If you would like more information about Jack’s Generosity, visit https://www.jacksgenerosity.com.