A Grandmother’s Promise
Watching her granddaughter’s fatal suffering from a rare disease turned Rutgers employee Cheryl Daniels into an advocate for a change in mandatory newborn screening laws.
Newswise — Lovingly placed photos in Cheryl Daniels’ Rutgers Business School office confirm she is a doting grandmother. But what most professors and students she encounters in her role as an administrative assistant don’t realize is that she is responsible for legislation that may save the lives of countless babies.
Daniels’ firstborn grandchild, Emma, succumbed to Krabbe Disease in 2012. Krabbe (crab BAY) is a rare genetic disorder of the nervous system that affects one in 100,000 babies, causing developmental delays, movement disorders and pulmonary and cardiac problems. Without quick diagnosis and treatment, Krabbe is fatal.
“The Emma I remember was a beautiful little girl who kicked and cooed – a girl with lovely green eyes and long eyelashes,” Daniels says. “But then that horrible disease took over. She became blind and deaf. She had seizures and was in a lot of pain.”
Emma was born in Franklin Park in July 2009, seemingly healthy and meeting her developmental milestones. But at 3 months, sudden changes – uncontrollable crying, piercing screams and body rigidity – signaled something was wrong. “What we now know is that it was as if all her nerve endings were exposed,” Daniels, a Bordentown resident, says. “And looking back at photos, we see her thumbs are folded into her palms – a classic sign of Krabbe.”
The pediatrician offered common newborn diagnoses – colic, irritable baby syndrome, teething – as probabilities, but the family, unconvinced, sought second opinions. Subsequent physicians suspected Krabbe, but the test would take weeks – time that Emma didn’t have. Learning this, Daniels contacted Hunter’s Hope, an advocacy group founded by former Buffalo Bills quarterback Jim Kelly, whose son died from Krabbe, and was referred to Duke Medical Center, which made the diagnosis that week.
By then, Emma was 5 months old and the disease had progressed; it was too late to save her with early cord blood and bone marrow transplants that might have prevented the onset of the disease. “All we could do was to try to alleviate her pain as she stopped being able to function,” says Daniels. “To watch a thriving little girl diminish in the way she did is a horror no parent or grandparent should have to live through.”
Daniels then discovered something even more heartbreaking: If Emma had been born in New York State, she would have been tested for Krabbe at birth and received immediate treatment to prevent its onset.
“I made a promise to Emma that we would make sure no other New Jersey babies would be diagnosed after it was too late,” Daniels says. She wanted to fix the problem in New Jersey for other families, but wasn’t sure how. “I was just a grandmom who had never been involved with anything political,” she says. But with the support of Hunter’s Hope, she began educating herself about newborn screenings and the legislative process.
She started calling legislators, talking to anyone who would listen. Many suggested creating an “Emma’s Day” to raise awareness about newborn screening, but Daniels knew that awareness alone wouldn’t save lives.
She pushed harder.
Realizing that the key to getting a law passed was making the case financially, Daniels gathered figures that compared the higher cost of ongoing care for an infant born with Krabbe against the one-time cost of screening and immediate treatment.
Daniels brought these statistics to legislators, eventually connecting with Monmouth County Assemblyman David P. Rible, who sponsored a bill to require that all newborns be screened for five rare, inherited metabolic disorders (known as lysosomal storage diseases, or LSDs): Krabbe, Pompe, Gaucher, Fabry and Niemann-Pick.
Emma’s Law was signed by Gov. Chris Christie in January 2012, and mandatory screenings will begin in Spring 2015. Until then, expectant parents can ask their obstetrician to perform supplemental newborn screening at their own expense for LSDs. Hunter’s Hope also makes a testing kit available on its website (huntershope.org). With the addition of these five new diseases, New Jersey now requires newborn testing for 60 different types of disorders – one of the most extensive such programs in the nation.
Daniels’ work is far from over. She is now taking her cause nationwide, educating families in the 45 states that do not test for LSDs at birth about how to advocate for similar laws. In July, she took vacation time to share Emma’s story and talk about the challenges she faced in getting Emma’s Law passed at Hunter’s Hope Family & Medical Symposium in Ellicottville, New York.
“I won’t stop until a uniform newborn screening program exists in the United States to protect all infants,” she says. “Anything less is unacceptable.”