Jackie Shifflett & Brian Edwards
It was a parent’s worst nightmare.
Jackie Shifflett got up early one morning and went in to wake her six-month-old son, Brian. But she could not rouse him.
“I was in total denial,” Shifflett recalls. “I changed his diaper and got him dressed before I realized something was terribly wrong.”
She rushed her baby to Martha Jefferson Hospital, but doctors there could find no reason why Brian had slipped into a coma.
Brian was transferred to UVA as a patient of Dr. Thaddeus Kelly, a pediatric geneticist who still supervises Brian’s care.
Nine days later, after Kelly had cleansed all impurities from Brian’s body with a complete blood and fluid exchange, the baby awoke. By that point, Shifflett says, she had stopped focusing on the fact that her son might not be normal. “I just wanted to see my baby,” she says.
“This was 1977,” Shifflett explains. “No one had heard of Propionic Acidemia,” the diagnosis that some nine months and dozens of hospital stays later was finally made by a physician in California, working closely with Dr. Kelly.
The disorder, caused by a recessive gene carried by each parent, is exceedingly rare. It occurs somewhere in the range of 1 in 35,000 to 1 in 75,000 newborns. Children with Propionic Acidemia lack the enzyme necessary to process protein, and since even today screening is not typically conducted at birth, most children are not diagnosed until the symptoms reach a critical stage– such as Brian’s coma. Most die in infancy. Severe seizures, mental retardation, poor muscle tone, and an inability to eat solid food without vomiting are some symptoms of the condition.
Brian, however, is unique. At six months old, his diagnosis came much later than other kids’, who are typically diagnosed in the first weeks of life. And his progress, by all accounts, is extraordinary. Though he is physically slight, he enjoys basketball, softball, fishing, and driving his go-cart. He also thrives on participating in a variety of activities at Region Ten’s Meadowcreek Center, where he spends each Thursday. He is able to read some words, and can perform simple math calculations. He is also, at age 25, the oldest known person with the disorder.
“Brian is a miracle,” Shifflett says. “Just by being here, he is helping other children who are born with the disorder.”
His relationship with his mother, however, seems at least as remarkable. During an interview for this story, Brian, who has the same striking green eyes as his mom, sat by her side smiling at her as she recalled the trials– and the joys– of the last two and a half decades.
The one topic Shifflett avoids in Brian’s presence is Brian’s biological father.
When Brian was four, Shifflett left her husband because, she says, “he couldn’t accept Brian.”
Shifflett, now the manager of Fashion Cents in the Pantops Shopping Center, acted alone as Brian’s fearless advocate. Leaving nothing to chance, Shifflett worked tirelessly to ensure that Brian’s diet was balanced to the gram (a life and death issue), and took him to specialist after specialist, always trying to find a way to help Brian progress and succeed in whatever ways he could.
“I have never pitied him,” Shifflett says, her eyes tearing, “and I don’t want anyone ever to pity him.”
In fact, she says having Brian is the greatest gift she’s ever been given. “I will never say it’s been easy,” she admits, “but life would not be complete without the three of us.”
The third person in “the three of us” is Eddie Shifflett, Brian’s step-dad, whom Jackie married when Brian was 16, and who “in every sense of the word,” Jackie says, “is Brian’s dad.”
“I told Eddie, ‘You want me, you take Brian, too. We’re a package deal.’” Eddie did just that. The couple even took Brian on their honeymoon, since Eddie knew being separated from Brian would prevent Jackie from relaxing.
Last year, though, Eddie took Brian on a weekend fishing trip. “It was just the guys,” Shifflett smiles. It was also the first night in Brian’s life that he’d been away from his mom.
And that’s the way Shifflett wants it to stay. “If he ever asks me if he can get a place of his own,” she says, emotion filling her voice, “I’ll have to say ‘yes.’” But until then, Shifflett says, she’ll wake each morning to the sound of Brian turning on his clock radio in the next room, and say, “Thank you, God, for giving us one more day.”