Stories about: Our patients’ stories

Solving Addison’s puzzle: Uncovering a congenital heart defect

Addison-on-bike-trail1Addison is a smart, sweet and caring child who brings a smile to everyone she meets. She is known for her hugs and frequently doles them out to anyone and everyone. She loves elephants—and her heart is elephant-sized! However, until last fall, Addison’s heart was causing mysterious and persistent medical issues that prevented her from doing all the things she loves. Unbeknownst to my husband and me, Addison was born with a congenital heart defect.

As a baby, Addison thrived but always seemed to have something going on. She had issues with reflux and did not enjoy tummy time or sleeping on her back. Waking several times during the night is not uncommon for a baby, but Addison seemed to be waking in pain every hour or two. When she was 9 months old, a GI specialist diagnosed her with reflux, and as she grew into a toddler, Addison developed significant respiratory issues, including a croupy cough. Now when she woke up during the night, it was with severe coughing fits.

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Never say never: Gymnast with brachial plexus soars

Photo credit: Robert Marra
Photo credit: Robert Marra

Shortly after Julia Duplin was born, doctors diagnosed her with brachial plexus birth palsy; some of the nerves running from her upper spinal cord to her left arm had been damaged during birth. The early prognosis was that she would have some level of disability in her left arm.

Seventeen years later, she’s captain of Winthrop High School’s gymnastic team. She whips around the uneven bars with apparent ease and effortlessly flips across the sprung floor. How did Julia journey from an awkward toddler who crawled using only her right arm to a gymnastics powerhouse?

From the beginning, Julia’s parents Dianne and Joseph committed themselves to her recovery, encouraging her to do as much as possible and not letting her brachial plexus injury hold her back.

“Many brachial plexus patients go on to excel in sports despite the limits of the affected arm,” says Peter Waters, MD, chief of Boston Children’s Hospital Orthopedic Center. “If a child has the drive, talent and passion for sports, a brachial plexus injury won’t hold her back.”

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Tuberous sclerosis: Clinical trial may be what halted Charlotte’s seizures

Seizures tuberous sclerosis
Charlotte with Jurriaan Peters, MD, in the Clinical and Translational Study Unit.

When Charlotte D’Amario was about 4½ months old, she began making odd, forward-lurching movements. At first, her pediatrician thought it was reflux—that she was trying to spit up. “It was getting worse and worse, and no one had a clue as to what it was,” says Allyson, her mother.

Her parents started to videotape her while she made these odd motions. They occurred in clusters of as many as 50 at a time, several times a day. Seeing videos of Charlotte at 8½ months, her pediatrician sent her to a neurologist. An electroencephalogram (EEG) revealed seizure activity, and an MRI scan showed tuber-shaped growths in Charlotte’s brain.

Charlotte was diagnosed with tuberous sclerosis complex (TSC), a rare genetic condition in which benign tumors grow in the brain and other organs such as the skin, heart, eyes, kidneys and lungs. In about 90 percent of children, it causes epilepsy that can result in developmental delays.

Charlotte’s parents were worried. “She wasn’t crawling or rolling, wasn’t hitting those baby milestones,” says Allyson.

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Our patients’ stories: overcoming breast asymmetry

adolescent-breast-center-blog-postHigh school can be hard enough on a girl’s self esteem. But for Kate*, typical rites of passage — like shopping for a prom dress — were impossible.

After trying on dress after dress that didn’t fit, Kate ultimately settled on something in black, with draped fabric to strategically cover her chest. Alterations made the gown wearable, but Kate still worried about whether her date would notice something that had begun to seem increasingly unusual to her about her body.

Kate suffered from severely asymmetrical, or lopsided, breasts. As she moved through puberty, her right breast grew beyond a D cup size, while her left breast never developed more than an A/B cup. It’s a condition that’s common and often overlooked, and extreme cases like Kate’s can cause young girls great distress, research has shown.

By 13, Kate noticed that her breasts looked different from those of her friends and sisters. “I kept hoping the problem would fix itself,” she recalls. “But it kept getting worse.”

Like many teens with breast conditions, Kate didn’t think there was anything that could be done to help her, so she adjusted as best she could. She and her mom, Susan, describe the teen as a reserved, well-liked girl who enjoyed being a part of many school activities and hoped to become a teacher after college. Kate did not let her asymmetry stop her from playing sports, enjoying the beach in the summer and trips to the mall with friends. She managed the problem by stuffing the smaller breast and wearing multiple bras, one that fit each side. “It was always a burden but I did my best to hide it,” she recalls.

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