Angel Custer and Anthony Shaffer must plan funeral arrangements for their little granddaughter even as they provide the care they hope will prolong her life.
Sixteen-month-old Jaylah suffers from a inherited neurodegenerative disorder called Krabbe disease.
She was born without an enzyme called galactocerebrosidase necessary to break down certain chemicals, including psychosine. Without this enzyme, psychosine accumulates and is toxic to the cells that make myelin, which is the protective covering of nerve cells.
Without the enzyme, the patient’s brain loses myelin cells, causing brain and neurological damage. Custer and Shaffer were told to expect Jaylah to live 13 months to two years.
The couple is telling their story in hopes that Pennsylvania will require a blood test that can detect Krabbe to be performed on newborns.
“It’s not going to benefit us, but the next child might not have to go through this,” Custer said.
Early Onset Infantile Krabbe Disease, which Jaylah has, is the most severe form.
Dr. Maria Escolar, of Children’s Hospital at the University of Pittsburgh Medical Center, who is treating Jaylah, has treated patients in early stages of the disease with a transplant of umbilical cord blood.
But transplant recipients have a 30 percent mortality rate and the transplant must be given before symptoms are severe, Escolar said.
That didn’t happen for Jaylah. She was 3 ½ months old when she came into Custer and Shaffer’s custody. Months later, in December, she was diagnosed.
Other forms of Krabbe develop later in life: late infantile, juvenile and adult, Escolar said. A baby with a positive newborn screening result for Krabbe disease can fall into any one of these types.
To test for Krabbe, patients are screened for levels of galactocerebrosidase. Sometimes patients have none of this enzyme or just some, Escolar said. But that alone doesn’t necessarily point to Krabbe disease. Medical professionals also have to look at the patient’s mutations to determine that.
The problem with newborn screening is the correlation between the mutations and the disease is “weak,” Escolar said. Only some mutations lead to Krabbe, Escolar said, while others leave doctors puzzled over when or whether they will lead to Krabbe.
And that makes it hard to determine how to treat these patients.
Some babies who test positive for the disease could develop it as adults, Escolar said.
“If you’re going to develop it as an adult, it would be better to wait until there are better treatments,” she said.
Escolar said she believes that in three or four years, “we will get to the point we will be able to predict, so maybe there will be better treatments so people don’t have to go through what this family is going through.”
In 2006, New York began screening newborns for Krabbe after publicity generated by the death of Hunter Kelly, son of Buffalo Bill’s Hall of Fame quarterback Bill Kelly.
Missouri is also screening newborns for Krabbe, and New Jersey, Illinois and New Mexico have passed legislation to begin doing so, Escolar said.
“As a parent, I still think I’d rather know if my child carries the mutation,” she said. “I would prefer to know that my child is at risk and that I should be monitoring things.”
Escolar said her clinic now cares for 110. One in 100,000 people get Krabbe, according to the Mayo Clinic.
Dr. Cynthia Elsner, Jaylah’s pediatrician at PinnacleHealth, said Jaylah’s the first child with Krabbe she’s seen in her 25 years as a pediatrician. She helped the family connect with Dr. Todd Barron, a York Wellspan neurologist who finally diagnosed her, having had one patient with the disease in the past.
Elsner also sees the benefits of a blood test in newborns, since parents would know what’s happening if and when their child develops symptoms.
“These people went for months without the diagnosis,” she said.