March 5, 1999

Chelsea Heath, 5, has spent most of her life in and out of hospitals. In 1993 at the age of 8 months, she started having unexplainable seizures. Her hometown doctors in Texas treated her for juvenile diabetes because of her high protein levels and administered antiseizure medications, but Chelsea failed to respond.

She eventually stopped eating, drinking and crawling. Her sensitive body was unable to digest food. Finally at 18 months, Chelsea was diagnosed with cystinosis, a condition caused when cystine, an amino acid, accumulates in the body's cells and forms crystals. It first strikes the kidneys and eyes and can spread through the liver, muscles, pancreas, brain and white blood cells. Along with seizures, other complications may arise if the disorder is not diagnosed and properly treated. This rare genetic disease affects one out of every 200,000 children.

Holli Heath-Indyck, Chelsea's mother, was frantic until she learned that several children with cystinosis were being treated successfully at the MGH. A team of MGH specialists – including gastroenterologists, ophthalmologists, endocrinologists, orthopædic surgeons, physical and occupational therapists, social workers and speech pathologists – work together to treat this disease.

The family moved Chelsea and her two siblings to Boston in 1994. "We've been here ever since," said Mike Indyck, Chelsea's father. "Chelsea has spent a lot of time at the MGH."

Julie Ingelfinger, MD, an MGH pediatric nephrologist and Chelsea's principal care physician, has worked with Chelsea for four years. Ingelfinger's main concern is to prevent cystinosis from causing kidney and other organ failure. Her second challenge is to maximize Chelsea's growth and see that she receives proper nutrition.

"Chelsea was failing to thrive," said Ingelfinger. She adds that patients' bodies may respond well to one course of action and then become sensitive and unresponsive to medications. Treatment can be difficult because what works one day, might not the next.

For the most part, Ingelfinger has prescribed varying doses of medicines that have helped Chelsea but are not a cure for her disease. "There isn't one solution," says Esther Israel, MD, Chelsea's gastroenterologist. "Chelsea's condition is always waxing and waning. We often must find alternatives to make sure proper nutrition and medications are provided."

When Chelsea isn't hospitalized, she still needs 24-hour nursing attention. Even though she hasn't been hospitalized for several months, Chelsea continues to receive all of her medications, IV solutions and nourishment through a tube.

"Chelsea is doing well," says Indyck. "She is attending preschool and will start kindergarten next year. She is progressing, but it is deceiving because she is very fragile."

According to her father, all of Chelsea's caregivers have been a great help to the family. John D'Angelo, MGH Pediatrics' liaison, coordinates all of Chelsea's medical appointments. Lynn McCusker, RN, Chelsea's primary nurse, has become very close to the family.

Indyck lavishes praise on the entire staff. "It's like they're family, not employees," he says. "At the MGH it's about people, not money or place but the individual. They really do care."