It’s the eerie moan Irene Villanueva will never forget.
Her 15-month-old son Nicholas woke up one morning last November, unresponsive, twitching, staring at the wall — and moaning at a pitch she had never heard.
“Ten o’clock that morning was the end of Nicholas as we knew him,” Villanueva said.
Deathly sick with the flu herself, Villanueva had no idea Nicholas was having a stroke. It took three weeks in intensive care, a nightmare of tests and tubes and unanswered questions for doctors to figure out that Nicholas’ stroke was caused by a serious metabolic disorder called VLCAD deficiency.
And as Villanueva and her husband, Carlos, came to grips with the fact that Nicholas’ stroke had caused brain damage, they learned that his disorder could have been detected at birth with a simple test and controlled with a special diet.
“It’s really sad because you think back, `Oh my God, I should have called an ambulance, I should have run through the doors of the emergency room,’ ” Villanueva said. “There will be things we have to live with forever, and you just don’t think a perfectly normal child is going to fall ill in a matter of hours and have a stroke.”
Today Nicholas is home in Miramar, Fla., with brothers Alexander, 5, and Eric, 3. He smiles and walks with help and makes lots of happy sounds.He gets special formula and medicine through a tube in his stomach, and he goes to physical and speech therapy three days a week.
His mother speaks with urgency of the need to make parents aware of the simple test that could have saved Nicholas this ordeal.
“I think everybody should know about this,” she said. “We need to make the testing mandatory.”
The technology exists to test for 30 inherited disorders, and support is growing in Florida and in many other states for requiring that all babies be tested for all of them.
“This is the beginning of a grass-roots effort all over the country to have newborn screening occur,” said Sheah Rarback, nutrition director at the University of Miami’s Mailman Center for Child Development and a leader of the effort in Florida.
The metabolic diseases are rare conditions in which the body is missing an enzyme. Because of the missing enzyme the child cannot metabolize a component of food, usually an amino acid, which is part of protein. Children with fatty acid disorders like the one Nicholas has are unable to change stored fat into energy, so fasting can have tragic consequences.
Rarback works closely with the families of these children because most of the disorders are treatable with a rigorous, lifelong diet.
For about $25, any parent can get the full range of tests done now. Four drops of blood from the baby can be sent on a form to one of two places that have tandem mass spectometry, the technology to screen for these disorders: Neo Gen Screening in Pittsburgh or Baylor University Medical Center in Dallas.
Finally learning what was wrong with Nicholas was a huge relief to the Villanuevas. But the baby’s troubles were just beginning; he had severe, frequent seizures and the left side of his body was weak.
Doctors at Joe DiMaggio Children’s Hospital in Hollywood, Fla., actually put him into a coma to help control the seizures, followed by more tests and more medications.
“When we brought him home for a New Year’s Eve visit, I said to my husband, `It’s time for Nicholas to come home,’ ” Irene Villanueva remembers. The family noticed a big improvement after Nicholas returned. “He has made a terrific recovery,” said Dr. Parul Jakabar, a metabolic geneticist based at Miami Children’s who still sees Nicholas at the Dan Marino Center in Weston, Fla.
Jakabar illustrates the value of universal newborn testing by describing a patient who was diagnosed with VLCAD — Nicholas’ disorder — at birth. He’s 2 now and doing fine, she said.
Just three weeks ago, identical twins Spencer and Chandler Sylvain of Deerfield Beach, Fla., were diagnosed with one of the rarest of the disorders, HMG Co-A Lyase Deficiency.
The discovery was made because an anesthesiologist ordered blood tests for Chandler in preparation for an MRI to investigate balance problems. She discovered Chandler had low blood sugar, and did more tests.
“According to everyone I’ve spoken to, he was going into metabolic crisis,” said the twins’ mom, Melinda. “The outcome of that weekend could have been very tragic.”
Instead, the 22-month-old twins are going on a special formula with only the amount of protein they can handle, along with a meat-free diet. “We feel very fortunate that this whole turn of events has led us to finding this diagnosis, and that it’s not more severe,” Melinda Sylvain said. “Plenty of parents have not had happy outcomes.”
Many parents have united to educate and campaign for newborn screening. Marsha Magol of Tampa, mother of an 11-year-old boy with PKU and a member of the Florida Newborn Screening Advisory Council, recently sent letters to all Florida hospitals urging them to provide the screening.
Florida has screened newborns for PKU, “the grandmother of metabolic disorders,” and treated them effectively since the 1960s, Rarback said. When not treated, PKU can lead to mental retardation.
“We’ve seen what newborn screening has done with PKU,” Rarback said. “Those kids are going on to college, marriage and fulfilling lives. We have newer technology to pass this gift on.”
The technology could have spared Nicholas Villanueva — and his family — a world of suffering. He still has seizures, despite trying many medications. He tumbles a lot when he walks, and his left arm hangs motionless some of the time. He must be fed through his stomach tube every six hours, in addition to eating other food every few hours.
He still visits a slew of doctors. “We’ve had cardiologists, endocrinologists, all kinds of ologists — ologists I’ve never heard of,” Irene Villanueva said.
She has great faith, based on the changes she has already seen.
Not long ago, Nicholas began smiling with his entire mouth rather than just the right half.
“Every once in a while there’s a new light that comes on for him,” she said. “It’s like the old Nicholas is starting to come back.”
