Stories about: Our Patients’ Stories

Worth every mile: Short bowel syndrome brings family to Boston

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During his most recent visit to Boston Children’s Hospital, 3-year-old Konrad Schienke resembles a tiny tornado, gleefully scampering around the room as he mugs for the camera and shouts, “Cheese!” Later, he smiles as a doctor gently felt his abdomen, giggling as if he was being tickled.

“It’s hard to believe what a sick little kid he has been,” says his father, Erich.

Yet, just a few years ago, this energetic boy resided in the neonatal intensive care unit at his local hospital in Pennsylvania, struggling with a diagnosis of short bowel syndrome. This rare but serious condition can occur when a child either loses or is born without enough small intestine, preventing the body from extracting the nutrients it needs to survive. Untreated, short bowel syndrome can lead to severe dehydration and malnutrition.

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Mending a ‘backward’ heart

Joe, who has congenitally corrected transposition of the great arteries , sits with his dog OdieThe first clue came with a murmur.

At a mere week old, Joe LaRocca was diagnosed with an extraordinarily rare heart defect. Both ventricles were reversed.

Fortunately, with this particular defect, the arteries are reversed too, essentially “correcting” the abnormality. That’s where it gets its name — congenitally corrected transposition of the great arteries (CCTGA).

In a normal heart, the demanding duty of pumping oxygenated blood into the body is handled by the left ventricle, and the right ventricle pumps blood a short distance into the lungs. But Joe’s heart was far from normal.

“The right ventricle is not meant to do the harder work,” says Dr. Elizabeth Blume, Heart Failure and Heart Transplant Program medical director at Boston Children’s Hospital. “Since the ventricles are reversed in patients with CCTGA, over time, this muscle tires out.”

For the past three decades, the team at Boston Children’s Heart Center has medically and surgically managed Joe’s condition. And at 33, his heart is still ticking.

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When your sons are both diagnosed with cancer

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One day, our 2-year-old son Javon complained about a bit of pain at daycare. It seemed harmless enough. But after a visit to the pediatrician, we ended up in the hospital for emergency surgery. There, they discovered that a mass in his body was causing the pain. “Cancer?” we feared, but it was too early to confirm.

As young, first-time parents, their father and I were unsure where to turn for help. There’s no manual on how to be a parent when you hear the news that your son has been diagnosed with cancer.

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Our son’s journey with CSWS epilepsy

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Our son Joshua was born in 2010, a happy and healthy 9 pounds. At the age of 2, he was a loving and sweet little boy who loved books, trains, puzzles and playing with his older siblings and friends. He was highly intelligent, speaking in clear four-word sentences. He was curious about the world and loved to learn.

At the age of four, Joshua began to decline in his social skills, becoming anxious, withdrawn and easily angered. He developed a stutter and had difficulty finding words to express himself. He often would not answer when spoken to and began exhibiting autism-like symptoms.

Within a year, Joshua began having facial twitches and became increasingly clumsy. His behavior became more impulsive and unpredictable, making it difficult for him to remain in school or even attend friends’ birthday parties. Fine motor tasks that were once easy became increasingly difficult. He was frustrated, and simple attempts to comfort him sparked aggressive verbal outbursts.

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