As the year comes to a close, we look back on some of the most popular stories — from basic tips to second chances to ground-breaking surgeries. Thank you to the many families and patients who kindly contributed to the success of Thriving in 2016. As always, you inspire us. Happy New Year! …
All signs were positive when Sofia Wylie was born: normal term delivery, great Apgar scores. “But at her two-month checkup with the pediatrician, she wasn’t lifting her head well, and her reflexes were weak,” says her mother Natalia. “She was like a rag doll.”
The pediatrician referred the New Hampshire family to a neurologist. Sofia received genetic testing, and the news wasn’t good: she had spinal muscular atrophy (SMA), a rare paralyzing disease. Even worse, she had the most severe form, SMA Type 1, which starts in infancy. Usually babies with this form, also known as Werdnig-Hoffmann Disease, rapidly lose muscle strength. Ninety percent die by the age of 2 years from respiratory failure unless they receive aggressive and invasive respiratory support.
“The neurologist said, ‘I’m very sorry, but this is a terminal disease. Enjoy the little time you have together,’” recalls Natalia.
Sometimes called a baby version of ALS, SMA is the number one genetic cause of infant mortality. But just before Christmas, the Food and Drug Administration (FDA) approved a new drug called Spinraza (nusinersen) that has given Sofia another chance. …
Happy to have given birth in January 2015 to two seemingly healthy boys, Levi and Colton, after an uneventful pregnancy, Kala Looks gave little thought to the routine heel prick of newborn screening. At 23 and 24, she and her husband, Phillip, were high school sweethearts starting a family.
Two weeks later, a Michigan state health official called. Something came up on Levi’s screen. You need to bring him in right away. Three weeks and numerous blood draws later, the Looks had a diagnosis: Severe combined immune deficiency (SCID) — “bubble boy” disease. Levi’s blood had only a few T cells, crucial ingredients of the immune system, and those were likely his mother’s lingering cells. Soon he would have no immune system at all.
Had Levi been born before October 2011, when Michigan began screening all newborns for “bubble boy” disease, he could well have died of overwhelming infection before his first birthday.
Instead, Levi has a functioning immune system after being treated in Boston as part of an international clinical trial of gene therapy for boys born with X-linked SCID. He is one of three boys treated on the trial’s U.S. arm whose disease was picked up by universal newborn screening, now standard in 42 states. Of the other four boys treated at U.S. sites, one from South America was diagnosed at birth, because an older brother had died of the disease. Three boys, from South America or states that didn’t yet have newborn screening, were diagnosed after suffering life-threatening infections that their bodies had trouble shaking. …
After Lacey Martin’s leukemia didn’t respond to initial rounds of chemotherapy and after she spent 10 weeks hospitalized for a stem cell transplant, the 11-year-old New Hampshire girl went home March 2 with an external line for medications that her mother would have to flush and clean twice a day. Lacey’s immune system and infection-fighting ability were so weakened from her treatment that she was under isolation precautions for six months after she left the hospital. Any bloodstream infection contracted through the line, which exited her chest, would be serious and potentially life-threatening.
It is terrifying knowing your child is so susceptible to bacteria and infection and you’re doing it in the house, with kids running around and the dog. I needed to know how to do it right, and I needed to know I could do it.
Caring for a child’s central line at home is, to say the least, a daunting responsibility.
“It’s extremely scary,” says Crystal Martin, Lacey’s mother. “It is terrifying knowing your child is so susceptible to bacteria and infection and you’re doing it in the house, with kids running around and the dog. I needed to know how to do it right, and I needed to know I could do it.”
This is the frontier of efforts to improve the quality of care. With more and more complex tasks moving from the hospital ward to the home, improving inpatient safety and quality of care is only the first step. After collaborating with other pediatric oncology programs to successfully reduce inpatient central-line-associated bloodstream infections (CLABSIs), Dana-Farber/Boston Children’s Cancer and Blood Disorders Center has now launched an initiative to reduce outpatient CLABSIs.
The Martins are among the first families to participate.