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

“My focus switched from pursuing a career where I could help many patients to ensuring our little girl could have the highest quality of life in spite of her diagnosis,” Priya says. “My clinical education in medical school made me realize the importance of finding a skilled medical team to treat Vaidehi the patient; but seeing things from the patient’s perspective for the first time made me realize how important it was to have a medical team that would collaborate with us as advocates for Vaidehi the individual. “

Despite all the unknowns surrounding CGD, one thing doctors are sure of is people like Vaidehi are at an increased risk to develop a specific, difficult-to-treat form of colitis that presents unique problems not typically seen in cases of inflammatory bowel disease (IBD). Even the onset of CGD colitis is different; Vaidehi was diagnosed with the disease as an infant, where most cases don’t develop until a person is a teenager.

CGD: A difficult balancing act

One of the most challenging aspects of managing the care of a child with colitis and CGD is that therapies commonly used for one condition may be at odds with treatments for the other. For example, because colitis is typically caused by an overactive immune system attacking harmless food, bacteria and other materials in the large intestine, doctors often prescribe special steroids and medications to suppress the patient’s immune system and reduce flare-ups. In children with CGD, who are already living with a compromised immune system, such treatments can be harmful if not closely managed. Finding the right type of medication and perfect dosage size for each patient can be very difficult and requires careful monitoring.

Bousvaros_AthosAthos Bousvaros, MD, MPH, is the associate director of the Inflammatory Bowel Disease Center at Boston Children’s Hospital, and he and his team have been caring for Vaidehi for the past three years. Priya says their interest in her daughter goes beyond curiosity about a rare medical case—they truly care about her as a person.

“The team at the Inflammatory Bowel Disease Center is perfect for a complex patient like Vaidehi; they bring both impeccable expertise about the latest scientific developments but also vast experience from having treated so many children with IBD,” she says. “But even more extraordinary is how they take into account Vaidehi’s whole personality when treating her. I am so grateful that Dr. Bousvaros and his team share my own goal as a mother—for Vaidehi to live as typical a life as possible.”

Coordinated care

In addition to her clinicians at the IBD Center, Vaidehi sees a specialist who manages her immune deficiency and participates in a special research study headed by the National Institute of Health, which aims to compile knowledge about CGD and its treatment. To successfully manage her colitis, Bousvaros and team must manage her medications and treatment plans, and coordinate her care with several different medical professionals.

“There is absolutely no ego involved with Dr. Bousvaros,” Priya says.  “He works closely with all of our specialists and listens to everyone’s point of view thoughtfully, all the while never letting the discussion get too academic. It’s all about Vaidehi’s health at the end. It’s quite a juggling act, and the group from the IBD Center handles it beautifully.”

A healthy appetite for life

Vaidehi-cooksLiving with such a rare and complex type of colitis has its setbacks. Vaidehi has flare-ups and difficulties from time to time, but by in large she lives the life of a very happy, average 7-year-old. She loves to dance and read—and despite having grown up with a serious chronic gastrointestinal disease—she’s beginning to show a real interest in the culinary world.

“She’s a little foodie who loves to cook,” Priya says. “The fact that she’s well enough to explore and enjoy that side of her personality is phenomenally important to us.  ”

Visit our Inflammatory Bowel Disease Center website for more information or call us at 617-355-6058 for an appointment with one of our IBD experts.

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

  1. She reminds me of my Sydney, we have been out of our heads with her diagnosis of Celiac three years ago and trying to get it under control. It has not been easy but these kids are troopers. Oh, and she loves to cook too.

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