Ella’s story: Two rare diseases and the NICU roller coaster ride

ella  1“Everyone tells you that the NICU is a roller coaster ride. What they don’t tell you is that it’s a customized roller coaster ride just for you. You never know what’s coming at you next,” says Carrie Shea, whose daughter Ella spent her first three months of life in Boston Children’s Hospital NICU.

Today, Ella is a “remarkably normal little girl,” says Carrie. It’s quite a feat for the three-year-old who was born with GACI (generalized arterial calcification of infancy), an extremely rare condition with an 85 percent mortality rate, and diagnosed with PKU (phenylketonuria), a second rare genetic disorder, a few weeks after birth.

But Ella and her parents seem to have a knack for beating the odds.

An unusual prenatal ultrasound finding

When she was 31 weeks pregnant, Carrie had a prenatal ultrasound to check her unborn baby’s birthweight.

And the roller coaster ride began.

“I’ve never seen this before,” the obstetrician told Carrie and her husband Mike. He sent the couple to Boston Children’s, where Jami Levine, MD, cardiology associate, diagnosed their baby with GACI. With GACI, a rare genetic condition inherited from both parents, calcium accumulates in the blood vessels and attacks the arteries or soft tissues, often leading to a stroke or heart attack before the baby reaches 6 months of age.

“We promised each other that we were going to fight it and give our baby the best chance we could,” says Carrie.ella 2

Ella was born two weeks later on May 24, 2011, weighing 4 lbs. and 13 oz. She was rushed from Beth Israel Deaconess Medical Center, where she was born, to Boston Children’s NICU. Mike, a builder, had started educating himself on GACI and bombarded her Newborn Medicine care team with question after question.

“They told us, ‘Keep doing what you’re doing. A lot of parents are the first ones to solve these riddles because they are so committed to their babies.’ That’s when we knew we were in the right place,” says Carrie.

“Mike and Carrie were amazing advocates for Ella. While her diagnosis was rare, and we didn’t have many concrete answers to her parents’ thought-provoking questions, they trusted us to do the very best for Ella. They quickly saw that everyone involved in Ella’s care absolutely wanted her to have a full and healthy life and that we would do anything in our power to ensure that,” says Jamie Strott, nurse practitioner.

Another genetic condition?

Ella’s first few months were full of twists and turns. At one week old, she was diagnosed with a second genetic condition—PKU, a metabolic disorder that requires a special diet. “The chance that Carrie and I are both carriers of two rare genetic mutations is billions to one,”says Mike.

Carrie and Mike tried to find the bright spots in the situation. PKU is not life-threatening and managed with rigid diet restrictions. Though GACI is often fatal, Ella’s doctors had diagnosed the condition very early, before it had time to irreparably damage her tiny system.

In some ways, Ella was a typical newborn. “She’s cute and pink and smiles when she poops,” says Mike. And unlike many preemies, she didn’t have a lot of tubes or wires, so Carrie and Mike, along with legions of NICU nurses, could hold her.

ella 3“You couldn’t walk by Ella’s bedside without stopping to say hello to her. Everyone instantly fell in love with her,” says Jamie.

Treating Ella’s GACI meant feeding her high doses of two very powerful medicines that needed to be slowly introduced to her system. Doctors closely monitored Ella for side effects and ordered regular x-rays to see if the calcium deposits in her arteries were receding.

Then Ella surprised everyone and developed necrotizing enterocolitis (NEC), a serious intestinal infection. Ella’s doctors had to shift gears; they couldn’t focus on the GACI because babies with NEC cannot be fed or receive medication orally. They treated the NEC with a two-week course of IV antibiotics, hoping that Ella could avoid surgery.

The treatment worked, and two weeks later doctors re-started Ella on the GACI treatment. Over the next several weeks, Ella continued to simultaneously flummox and charm her parents and caregivers. She developed mysterious digestive issues, acid reflux and calcifications in her hip joint. She also smiled at them, captivating everyone with her big, blue eyes.

Despite the setbacks, Ella grew steadily, surpassing the 7 lb. mark in July. Then in early August, Jamie showed Carrie and Mike two x-rays, one from July 5 and the second from August 5. “The reduction in the amount of calcium between the two x-rays was so stark that even I could read the data with the same clarity as a 20-year radiologist,” says Mike.

The doctor gave Carrie and Mike the news every NICU parent longs to hear—Ella was going home.

For the last three years, Ella, Carrie and Mike have been home in Amesbury, Mass. They make regular trips to Boston Children’s to see Ella’s slew of specialists, who keep an eye on her arteries to make sure that GACI does not wreak havoc on her body and to help Mike and Carrie manage Ella’s PKU. ella 4

Ella, who has ongoing issues with hip mobility, has her own ideas about what to do during a hospital visit. After a recent appointment, the family returned to the NICU.

“Ella wanted to have a running race with me down the hallway. She said, ‘Ready, set, go!’ And we ran racing each other down the hallway together! She obviously won and was so proud of herself. She wanted to do it again and again until I was tired. It filled my heart with joy being able to run next to the sweet girl I helped save. Not only did we save her life, we (the medical team and her parents) made sure that her life would be happy and healthy,” says Jamie.