Emma: Full of Life

Emma needs medicine around the clock – 32 syringes worth, administered through the gastrostomy tube she uses because she can’t swallow.

This will likely be the reality for the spunky 6-year-old for the rest of her life. But with expert medical care from UCSF Benioff Children's Hospitals, Emma and her family take her challenges in stride.

Emma’s parents began to suspect something might be amiss when their daughter hadn’t started walking by age 18 months. Her pediatrician speculated that she was just cautious and would walk when she was ready.

But Emma had also stopped gaining weight and was drinking constantly, waking up at night crying for water. Living in a small town near California’s Oregon border, Emma’s parents had little access to specialty care but were concerned enough to seek out a second opinion.

They drove seven hours south to UCSF Benioff Children's Hospitals to consult with our nationally ranked team of nephrologists (kidney specialists). “The UCSF nephrologist knew immediately, just by looking at Emma, that she had kidney disease and rickets,” recalls her mother Shelly. “That was a shock.”

Emma was admitted to the hospital weighing just 16 pounds while UCSF specialists stabilized her and waited to hear the results of a key blood test. The family had packed for a three-day trip; they ended up staying 26.

Test results finally revealed the reason for Emma’s confusing symptoms. She had cystinosis, a genetic disorder that causes widespread tissue and organ damage and is ultimately fatal. Only about 2,000 people worldwide are known to have the disease.

She’s a little ball of fire,” Shelly says. “She’s been through so much, but she’s always happy and full of life.

“It was a heartbreaking diagnosis,” says Shelly. “It took us a long time to wrap our heads around.”

Fortunately, Emma’s care team has been supportive every step of the way, talking through her treatment plan and educating her parents on how to handle the challenges to come. “We couldn’t have gotten through it without the nurses and social workers,” Shelly says. “They were there for us anytime we were struggling.”

Emma’s parents are hoping for a cure within her lifetime; currently, the average life expectancy with cystinosis is 28. “Originally, we didn’t have a lot of hope,” Shelly says. “But even within the four years since she was diagnosed, the strides that have been made with research and technology are amazing.”

Until then, they feel lucky to have UCSF Benioff Children’s Hospitals in their corner. Emma’s parents appreciate the comprehensive, child-centered care, from the family house where they can stay for free to the child life specialists who blow bubbles to distract Emma when her blood is drawn.

“Here in our small town we don’t have any children’s hospitals close by,” Shelly says. “Having specialized medical care where they know how to talk to and take care of kids makes a big difference.”

As for Emma, you’d never know that her life revolves around complex medical needs, or that her medications make her nauseous all day, every day. She loves playing in the pool and lights up when she dances.

“She’s a little ball of fire,” Shelly says. “She’s been through so much, but she’s always happy and full of life.”

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