Overcoming IBD: ‘I am bigger than my Crohn’s disease.’

Camden Vassallo Crohns DiseaseLike most high school seniors, Camden Vassallo of Norwell has a very busy schedule. The 17-year-old Thayer Academy student manages a heavy academic schedule, works at the local YMCA, is a two-sport, three-season athlete and is looking ahead to college.

But like nearly 800,000 children and adults in the U.S., Camden is also managing Crohn’s disease — a chronic inflammation of the gastrointestinal tract. The condition causes intense stomach pain, diarrhea, fatigue, bloody stool and weight loss in severe cases.

Although the disease has uncomfortable and sometimes embarrassing symptoms, Camden says Crohn’s hasn’t slowed him down or shaken his optimism.

“At first I struggled with having a disease that deals with a gross part of the body,” he says. “But Crohn’s doesn’t consume me and I don’t let it control my life.”

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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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Second opinion gives unborn baby second chance

fetal second opinionSeven-month-old Charlotte Bent is hitting all of her developmental milestones — smiling, laughing, playing peek-a-boo, bearing weight on her legs. Her parents, Jennifer and Keith, are overjoyed.

“It’s a complete 180-degree turn from where we thought we would be this time last year,” says Jennifer.

After struggling to conceive their second child, the couple was thrilled when Jennifer became pregnant. The results of genetic testing were normal and confirmed they would be welcoming a daughter in April.

Jennifer felt the baby’s first kicks on Nov. 23, 2015.

The next day, she was scheduled for an anatomy scan. “At first, everything seemed normal,” recalls Jennifer. But as the obstetrician was helping her from the exam table, he looked at Jennifer. “I have some concerns,” he told her.

“My heart dropped,” she says. Joy turned to devastation.

“I think your baby is missing part of her brain,” the obstetrician said.

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Giving thanks: Stories of volunteerism, gratitude and giving back

Thanksgiving Day is a time rich in family, gratitude and appreciation. In honor of the holiday, we are celebrating the patient families who have traveled through our doors and the selfless acts of kindness and volunteerism that follow.

Donating platelets and cycling for a cause

Ten years ago, Adam Nussenbaum’s son, Max, was treated at Boston Children’s and overcame a life threatening illness. Today, Adam gives his time — and platelets — to help those in need, and he is doing so in celebration of Max; his daughter Kate, who donated her bone marrow to help her brother; and the clinicians, who made his son’s recovery possible.

Shari Abramowitz, Max, Kate and Adam Nussenbaum
Shari Abramowitz, Adam, Kate, and Max Nussenbaum

For the past eight years, Adam has participated in the Pan Mass Challenge and raised over $55,000 to benefit the Pediatric Bone Marrow Transplant Center at Boston Children’s. He also donates platelets on a monthly basis.

“It has been immensely gratifying to know that I have and will continue to play a small role in helping patients like Max on their road to recovery,” he says.


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