Stories about: stem cell transplant

He lost his sight to cancer, but not his vision of a full life

Man blind from leukemia climbs 14,000 ft. mountain after stem cell transplant.

When Tim Conners collected his wish from the Make-A-Wish Foundation in 2012 at the age of 18, he was blind from childhood leukemia that had spread to his optic nerve and craving inspiration to transcend his disability. A football player and wrestler who’d never been an outdoorsman, he asked to meet Erik Weihenmayer, the first blind person to climb the Seven Summits, the highest mountains on seven continents.

Tim’s wish came true. He had 2½ terrifying but transformative days of outdoor adventures in Colorado with Erik, who lost his sight to a degenerative eye disorder at 13.

Now Tim is training to climb Mount Kilimanjaro, the 19,000-foot peak in Tanzania in May, shortly after he graduates from Ithaca College. He’s already climbed four peaks in Colorado, including the 14,000-foot, snow- and loose-rock-covered Mount Sherman last summer. He’s trekked and rafted in the Grand Canyon.

“In a lot of ways, losing my sight gave me my vision,” says Tim.

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Newborn screening and gene therapy save baby from ‘bubble boy’ disease

Baby with "bubble boy disease" pictured with his family
Levi with his Dad, Phillip, and Colton with his mom, Kala (photo by Amie Van Amberg)

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.

That the fraternal twins are now healthy, active toddlers, climbing onto the dining room table and leafing through picture books and starting to talk, is thanks to newborn screening and a pioneering gene therapy trial at Dana-Farber/Boston Children’s Cancer and Blood Disorders Center.

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.

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Young actor plays unexpected role

MIBG-neuorblastoma

Before he was diagnosed with neuroblastoma in 2014 at the age of 11, Noah Smith was a veteran of the children’s theater stage. The suburban Boston boy had been cast in ensembles. He’d played Kurt Von Trapp in “The Sound of Music.”

Little did Noah know that he would soon star in a video designed to allay the fears of children facing radioactive medication delivered intravenously in a lead-lined room where they’d live, under restrictions, for a week. After he received the medication, his parents would only be able to visit him one at a time, standing behind a lead shield and unable to touch him. Nurses would limit their time in his room, entering briefly to check vital signs. Parents and nurses alike would wear badges to monitor their exposure to the radioactive child in the bed.

Add to this the fact that most children who get the cancer that originates in nerve cells are under 5 and it’s easy to understand the anxiety these young patients and their families might feel anticipating MIBG (metaiodobenzylguanidine) therapy.

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The new frontier: Improving safety of outpatient care done at home

central lineAfter 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.

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