Author: Irene Sege

Blood relatives: Family bound by love and rare blood disorder

Tracy Antonelli was 4 when she was diagnosed with thalassemia, a rare blood disorder that occurs often enough in Mediterranean countries like Italy that an old adage, uttered only partially in jest, warns Italian-Americans against marrying other Italian-Americans.

In 2002, Tracy wed Patrick Mooty, whose background is mostly Irish. Their three daughters — 7-year-old Emmilene, 6-year-old Rosalie and 3-year-old Francesca — all have thalassemia, but not through the accident of the couple’s genetics. Tracy and Patrick adopted the girls from China, specifically because they, too, have the potentially life-threatening disease, which, according to conservative estimates, occurs in about 10,000 pregnancies a year in China and about 600 a year in the United States.

“This is the most rewarding, perfect experience I’ve had in my life,” says Tracy.

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Twist of fate: Anna reconnects with the oncologist who saved her life

Anna survived childhood cancer.
Credit: Mark Dela Cruz

Anna Protsiou was five in 2002 when she was diagnosed with neuroblastoma. She remembers pain and the fruit-scented anesthesia masks that led her to stop eating cherries. She remembers hospital arts and crafts projects. What she barely remembers is the pediatric oncologist who saved her life.

She was a young girl then who didn’t speak English, moving with her family from their native Greece to be treated for a year at Dana-Farber/Boston Children’s Cancer and Blood Disorders Center. Now, after moving with her family to Canada in 2014, she’s a 20-year-old dance student at the School of Contemporary Dancers/ University of Winnipeg and a contortionist with a rubber-band body. She’s ready to claim her history as her own, ready to move beyond photographs of the doctor and memories recounted by her parents, ready to take charge of her own health care.

So Anna traveled to Boston to meet her physician, Dr. Lisa Diller, and learn about potential late effects of the high-dose chemotherapy, radiation and two stem cell transplants that eradicated her cancer after surgeons excised her tumor.

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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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