Connect

This is the latest installment in our Connect article series “Hope at Work” — showcasing inspiring stories about how our team members contribute to UVA Health’s 10-year Strategic Plan: “One Future Together Health and Hope for All.”

No matter where you work, you have an opportunity to inspire hope in others. These stories show how.

“Our family didn’t see this coming. I had a healthy pregnancy and a seemingly healthy baby. However, at 36 weeks pregnant I felt a decrease in movement and pushed for an ultrasound. I was induced at 37 weeks. And a few hours after Olivia was born, a nurse saw her turn blue in the nursery. We thought and had prayed that it was a one-time fluke, but multiple life-threatening events followed — so she was rushed to the NICU.”

In 2022, Jenna and Ben King’s daughter Olivia was hospitalized at birth from apnea and more unexplained abnormalities. In addition to recurring “blue spells,” other alarming signs and symptoms included an inability to feed on her own, slower than normal heart rate, decreased muscle tone, small head size, and delayed myelination that could lead to neurological issues.

“Our family went six weeks without a diagnosis and we not only suffered in the unknown, but struggled to make confident decisions about her care,” recalls Jenna.

Olivia was transferred to UVA Health Children’s in Charlottesville, where “pivotal” broad genetic testing showed she had the rare and terminal EEF1A2-related neurodevelopmental disorder. There is no cure. “So my first question was, ‘What does this mean for Olivia?’” Jenna remembers asking.

There are only about 100 known cases of other children in the world with this genetic mutation, and only about eight children who share Olivia’s specific variant. The Kings learned Olivia likely would never walk or talk, could have trouble seeing, might not hear well, could develop epilepsy, and would likely be autistic.

“The thing about a disease this rare is that there aren’t answers. There’s no blueprint.”

“The diagnosis helped Olivia’s providers, help us,” emphasizes Jenna. “It opened doors to many resources, including palliative care, essential at-home medical equipment and nursing, Medicaid waivers — which spared us from financial devastation — and eventually hospice. For other children, a diagnosis might be lifesaving. Early intervention could drastically improve a child’s outcome and life trajectory.”

“And while this was our family’s worst nightmare, there was definitely a sense of peace in knowing the truth and being able to make informed decisions moving forward.”

Olivia was discharged at two and a half months old. She passed away seven weeks later — on Oct. 30, 2022 — in her mother’s arms, having “felt loved every second of her life.”

'Giving Others the Gift We Were Given'

Her family was inspired to establish Olivia’s Light, a non-profit organization. “Every child and every family deserve the best care,” declares Jenna. “And through Olivia’s Light, we will advocate for this cause on their behalf.”

Jenna says even though broad genetic testing is the most efficient and accurate way to diagnose patients with rare underlying genetic conditions, it’s hard to believe it’s not covered by all insurance types and accessible to everyone — and not the standard of care. The Kings hope to see a day when it is — and they’re working toward that.

"But in the meantime, on behalf of our late daughter and a community that supported our fundraising efforts, we’re giving others the gift we were given: broad genetic testing for patients with financial need.“

At UVA Health Children’s Grand Rounds on Nov. 16, 2023 at the Education Resource Center in Charlottesville, Jenna delivered a $50,000 check from Olivia’s Light to UVA Health Children’s.

Cultivating Healthy Communities and Belonging for All

“We’re tremendously thankful for your generosity to our patients,” says UVA School of Medicine Assistant Professor of Pediatrics, Medical Biochemical and Clinical Genetics Christina Peroutka, MD, FAAP, FACMG. She adds that the genetics team is committed to offering broad genetic testing to pediatric and adult patients with rare presentations or unsolved diagnostic odysseys through genetics inpatient and outpatient consultations in Charlottesville, with outpatient appointments in Bristol, Lynchburg, Richmond, and Winchester, Virginia satellite locations.

At the presentation, Jenna also thanked UVA Health’s David Kaufman, MD, Olivia’s primary attending; Karen Fairchild, MD, another of Olivia's attendings; Heather Santiago, RN, Olivia’s primary nurse, NICU; Haley Life, RN, Olivia’s nurse, NICU; Paula Darraji, Olivia’s RN case manager, now retired; occupational, physical, and speech therapy teams; Patrick Ahern, former UVA Health palliative care nurse practitioner; Julia Figueroa, RN, UVA Health Continuum skilled nursing; Eli Williams, MD, and Jinbo Fan, MD, pathology; William G. Wilson, MD, Chief, Genetics Division, Pediatrics; Mackenzie Trapp, genetic counselor; Mary Faith Marshall, PhD, UVA Health Center for Health Humanities and Ethics; Donna Canterbury, UVA Health lab compliance coordinator; and others.

Enabling Discoveries for Better Health

"Jenna and Ben have been so energizing in wanting to help other families as well as medical teams — especially on the heels of Olivia passing," says Dr. Kaufman. "The rapid broad genetic testing Olivia had is revolutionizing our ability to make diagnoses better and more quickly deliver the right care patients need — whether something not yet treatable like what Olivia had — to many treatable diseases."

According to Dr. Kaufman, right now, “broad genetic testing" refers to the ability to identify about 7,000 conditions — and that number is growing. He says it's estimated that broad genetic testing will help about a third of our patients that we don’t have a diagnosis for in the NICU.

Dr. Kaufman adds that It also helps immensely in directing the medical team to perform the correct procedures shortening the time in the hospital and getting families home sooner. "The work Olivia’s Light is doing will help get this important information out about the power of broad and rapid genetic testing to other hospitals and medical practices so it can more quickly benefit many other patients and families." 

“It’s been an extremely rewarding experience to work with the King family and to witness the long-term, positive outcomes of genetic testing. Now, through the donation made by Olivia’s Light, we will have the opportunity to provide comprehensive genetic testing to many more families,” says Trapp. 

Olivia’s Light also organizes fundraising events, such as “Ride Home Roads” in Ashland, Virginia. At the helm — Olivia’s father, a former Tour de France professional cyclist. “Olivia changed the direction and purpose of our lives,” says Ben. “It is a privilege to honor her and continue her legacy in this way.”

A Loving Tribute

“The UVA Children’s genetics team supported our family throughout our journey,” credits Jenna. “Following Olivia’s diagnosis, my husband and I underwent additional testing to better understand the origin of Olivia’s condition, and additionally, to continue growing our family. Those answers gave us the confidence to try again.”

In September 2023, Jenna, Ben, and son Luca welcomed their second daughter and third child, Hollie. Her middle name is a loving tribute: Olivia.

“We hope Olivia’s story will impact young children, assist their families, help drive change within our healthcare system, as well as reshape the way the world perceives and cares for a forgotten society: people with genetic disorders, medical complexities, and severe disabilities.”