Stories about: our patients’ stories

Living with chronic granulomatous disease and inflammatory bowel disease: Treating a unique condition requires a special care team

When Priya Moorthy first learned she was pregnant, her plan was to defer medical school for a year, then finish her education when her baby had grown. But shortly after her daughter Vaidehi was born, Priya realized that caring for her would be a full-time responsibility. Even though she wouldn’t be returning to med school in the foreseeable future, raising Vaidehi would give Priya a unique medical education all its own.

A very special type of IBD

Vaidehi-bakesAt just three months old, Vaidehi was diagnosed with chronic granulomatous disease (CGD), a rare genetic immune deficiency that prevents her body from effectively protecting against certain bacteria and fungi. Because CGD is rare (it only effects around 1 out of every 250,000 people), there is a lot the medical community still needs to learn about the disease, especially when it presents with other gastrointestinal conditions

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As pediatric cancer survivors, mother and daughter share unique bond

This story originally appeared on Insight, Dana-Farber’s blog

Insights 1Jessica Tierney never thought she’d experience a harder moment than learning she had cancer at age 15 – until her 7-year-old daughter, Emma, was diagnosed with acute lymphocytic leukemia (ALL) last October.

Emma is undergoing treatment at Boston Children’s Hospital and Dana-Farber’s Jimmy Fund Clinic, just as Jessica did in 1991. “Emma already knew I had once been really sick, so I told her, ‘Look at me. I was treated a long time ago, and the medicine is even better now,” Jessica Tierney recalls of hearing her daughter’s diagnosis.

Jessica is a survivor of acute myeloid leukemia, or AML, a different leukemia than Emma has. Jessica was always told there was no danger of passing AML down to her two children, but there may be an ALL-AML link involved.

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Scoliosis surgery: from tears to smiles

Taychil4Fifteen-year-old Taylor Gomes approached her pre-operative appointment for scoliosis surgery as many teens might—in tears. “She came out of the appointment smiling. Not many people have that effect on Taylor,” says her mother Holly Gomes of Danvers, Mass.

Holly credits Taylor’s orthopedic surgeon Michael Glotzbecker, MD, of Boston Children’s Hospital’s Department of Orthopedic Surgery, with her daughter’s 180-degree shift in attitude.

A local pediatrician diagnosed Taylor with scoliosis when she was 8 years old, and measured her curve annually with back x-rays during her well-child appointments.

By the time Taylor turned 14, her curve had progressed, and her pediatrician knew it was time to refer to a specialist at Boston Children’s.

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A heartfelt reunion

Boston_EileenHuacoBday_and_ParentsChildhood friends Eileen and Annie were like most young girls who grew up in the 1980s: They played with Cabbage Patch Kids and My Little Ponies, and when Cyndi Lauper came on the radio to remind listeners that “Girls Just Wanna Have Fun,” they both danced and sang along like the song was written especially for them. But these two had a lot more in common than a mutual love for big hair and toy horses.

For starters, both girls were born with a serious congenital heart condition—Annie with Hypoplastic Left Heart Syndrome (HLHS), Eileen with Double Inlet Left Single Ventricle (DIVLS)—that brought them to Boston Children’s Hospital’s Heart Center for treatment in 1986. While at the hospital, they shared a room, each waiting their turn to receive the Fontan Procedure, a specialized surgery that helps children who have only a single working pumping chamber in their heart.

But Annie and Eileen shared more than a room and treatment plan; they also shared a common heritage. Annie was born in Peru, but was adopted by American parents and moved to the United States as a toddler. Eileen was a native Peruvian and came to the United States exclusively for her treatment at Boston Children’s.

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