By Shawn Reeves

After struggling to find a meaningful way to support MCADD research, Beth Vannoy helped bring families and Emory together to build a registry — and a path forward.

(Beth Vannoy)

Four days after Alec Vannoy was born, he grew lethargic and stopped wetting his diapers. His mother, Beth, knew something was wrong. The hospital had sent her home with a sample bottle of formula, but she had been cautioned against introducing formula while she was trying to nurse because it could confuse the baby.

She called her mother. “Something’s just not right,” Beth told her.

Out of ideas, Beth gave Alec the bottle. Soon, he was eating, crying, and wetting his diapers again. In other words, he was behaving as healthy newborns do. Days later, the Vannoys learned that Alec’s newborn screening had returned an abnormal result: medium-chain acyl-CoA dehydrogenase deficiency, or MCADD, a rare genetic condition that keeps the body from using certain fats for energy. If a child with MCADD goes too long without food, especially during illness, blood sugar can drop quickly and trigger a metabolic crisis, which left untreated can lead to seizures, coma, permanent neurological damage, or death.

With early diagnosis and careful management, however, children with MCADD can thrive. Alec is 14 now and doing well. 

But the danger is there. And even though every state now screens newborns for MCADD, families and clinicians still receive false negatives, delayed diagnoses, and uneven guidance after abnormal results. A recent Louisiana study underscores that risk: During two decades of newborn screening outcomes, MCADD was the leading cause of death among fatty acid oxidation disorders.

Beth found that universal screening does not guarantee what families need most: fast results. Where a child is born can affect how quickly a family receives potentially lifesaving information.

“Literally the state in which you’re born can determine your chances of survival,” Beth says. “That was just deplorable to me.”

From Urgency To Action

In 2018, she founded Minutes Matter to advocate for faster newborn screening results, connect families affected by MCADD, and make more research possible.

Beth initially pursued bedside screening that could provide preliminary results before a baby even leaves the hospital. But when she looked for data to support the idea, she found basic information about MCADD cases and outcomes was hard to find.

That information gap led her to the idea of a patient registry: a single place where families could share information and researchers could find people willing to take part in studies. She contacted the National Organization for Rare Disorders to find out what it would take to build one.

Then the pandemic upended research priorities. Beth stopped actively soliciting donations because she would not ask families to give unless she could explain exactly how their money would be used.

“I knew where we needed to go,” she says. “But I didn’t know how to get there.”

Finding The Right Partner

Beth attended a virtual conference hosted by Emory researcher Rani Singh, PhD, a professor of human genetics and leading researcher in nutritional care for inherited metabolic disorders. Singh’s work brings together research, clinical care, and the experiences of families living with rare diseases. After the conference, they spoke.

“She just got it,” Beth says. “She understood what we sought to do, and she had the scientific expertise to help make it happen."

Clinicians treat MCADD, but families live with it between appointments. They set alarms, time feedings, watch for illness, and wonder whether an emergency room physician will know what to do. “The physicians don’t live it,” she says. “They treat it. When you live it, you understand it differently.”

Under Singh’s leadership, Emory could provide the scientific expertise and infrastructure Beth had been missing. Minutes Matter brought the family network and the money to get the work started.

Building A Place For Research To Begin

Minutes Matter committed $116,000 to help Emory launch the registry and staff its early development. Emory’s Medical Nutrition Therapy for Prevention program is developing it with the National Organization for Rare Disorders.

The work is still in its early stages. Singh’s team plans to use focus groups to shape the registry and enroll more than 100 families through a secure portal. Beth is helping shape the questions families will answer. Singh is bringing together the project’s scientific and medical advisers. Beth says they hope to register the first family this year.

Once active, the registry will connect researchers with what Beth calls a “ready, willing and able population” of families interested in MCADD studies. Researchers are already reaching out to her for help finding participants.

“Before long, we’ll have a registry,” Beth says. “Then when researchers call, we’ll have this pool of people with data, lived experiences, and a willingness to participate.”

The registry brings Minutes Matter back to Beth’s original goal. It gives families a way to share their experiences and helps researchers find participants for future studies. She hopes it will lead to faster screening results, clearer guidance, and a better understanding of how people with MCADD should be cared for throughout their lives.

Clinical trials may still be years away. But after much uncertainty around where MCADD research could begin, Beth can finally see a path forward. And it starts with the families themselves. 

“There has not been a lot of hope in terms of where we are going to progress with this,” she says. “But parents who have lived this —they and their children are what drive all of this.”

Emory's Advancement & Alumni Engagement team spotlights members of the Emory community who embody the university's mission and honors the supporters whose generosity makes it possible. Know someone we should write about? Tell us.