Toward the end of Ella Shea’s three-month stay in Boston Children’s Hospital in 2011, when doctors shared the x-rays that showed the treatment for her rare disease was working, her parents were overjoyed. Ella had beat GACI (generalized arterial calcification of infancy), an extremely rare disease with an 85 percent mortality rate.
Her mother Carrie had another thought—the next family facing this diagnosis will have more answers than we did.
Carrie’s hunch ultimately blossomed into something much bigger. She and her husband Michael forged a tremendous bond with another Boston Children’s family struggling with GACI and paved the way for a network of families supporting each other as they parent children with GACI.
Two years later, after an ultrasound showed brightness indicative of calcium in her unborn baby’s aorta, Christine O’Brien found herself Googling “arterial calcification on fetal ultrasound.”
“What I read was heartbreaking. The results pointed to GACI. There had only been 100 cases worldwide, and there is no specific treatment. Most babies die from a heart attack in the first year of life.”
The O’Brien-Lemanski family
Like Carrie and Michael, Christine and her husband, also named Michael, were no strangers to rare disease. Their son Callum was born on August 6, 2010, at 25 weeks and spent four months in the NICU at Beth Israel Deaconess Medical Center. He had chronic lung disease and feeding issues that required follow-up care at Boston Children’s.
The new parents learned to manage life with a medically fragile, oxygen-dependent baby—not quite sure what the future held for their family. “We were socially isolated—locked into this medical world where everything was about doctors’ appointments and Callum’s care,” says Christine.
Over Callum’s first few months at home, his parents noticed that he got upset when his arms or shoulders were moved in certain ways. They were referred to orthopedic surgeon Don Bae, MD, who ordered an x-ray. It showed calcium deposits in his shoulder joints. After Bae performed surgery to remove as much of the calcium as possible in Callum’s right shoulder, his range of motion and flexibility improved. “Still, we had no answers as to what caused the calcium deposits. It was a mystery,” says Christine.
A follow-up MRI a few months later revealed Callum would need surgery on his left shoulder and showed another problem—tortuous or twisty carotid and vertebral arteries.
Callum’s pulmonologist Larry Rhein, MD, began to suspect a connective tissue disease. Genetic testing confirmed Loeys-Dietz syndrome (LDS), a rare condition that affects many body systems in different ways. One of the most worrisome aspects is the development of aneurysms in the arterial tree.
Christine and Michael were stunned. “Our sweet two-year-old boy had a rare genetic condition that would affect him the rest of his life. He would never be able to play sports or ride roller coasters.” And doctors were still puzzled about the calcium deposits in Callum’s shoulders.
New baby, new diagnosis
Doctors suggested Christine, who was eight months pregnant at the time, and Michael undergo genetic testing to see if either of them had the genetic mutation that causes LDS, telling them that 75 percent of the time the mutation is spontaneous rather than inherited. However, that was not the case for the family. Michael tested positive for the mutation, and an echocardiogram showed an operable aneurysm on his aortic root.
It also meant that the couple’s second child had a 50 percent chance of having LDS. Christine asked her obstetrician for an ultrasound to examine the baby for signs of LDS. They did not find signs of LDS. Instead, they found brightness indicative of calcium in the baby’s aorta, but her obstetrician wasn’t concerned.
Panicked, Christine turned to the Internet and learned about GACI. She emailed Ron Lacro, MD, Callum’s cardiologist, hoping he could calm her fears. He asked her to forward the report and scheduled her for a fetal echocardiogram at Boston Children’s Advanced Fetal Care Center the following Monday.
“That was one of the worst weekends of my life. I could feel the baby move and kick and hiccup. How could this baby who felt so alive have a fatal disease? Would she survive birth? Would we get to bring her home? Would we bring her home to watch the disease progress and ultimately claim her life?”
“Dr. Levine told us not to give up hope.” Two years earlier, doctors at Boston Children’s had successfully treated a baby girl—Ella Shea—with bisphosphonate therapy. “Hearing that Ella made it through and did not just survive but is thriving helped us get through the darkest time in our lives,” says Christine.
“She was a survivor. A beacon of hope.”
Doctors delivered Nora two days later. “I was able to hold her for a few minutes before the NICU team took her away for evaluation. She was perfect. Pink and screaming. Apgar scores of 9 and 9. 6 pounds 3 ounces. We were in love. And we were terrified.”
Doctors tested Nora’s blood, and Callum’s, for GACI. Both came back positive. The Boston Children’s team came up with a treatment plan for Nora, basing it heavily on Ella’s. Nora spent nine days in the NICU. Before Christine and Michael took her home, a neonatologist handed Christine a piece of paper with the names Carrie and Michael Shea. She tucked it in her wallet for safekeeping.
The next few weeks were a whirlwind for Christine and Michael. They brought Nora to Boston Children’s for weekly infusions, which often took 5 to 6 hours. When Nora was 10 weeks old, Michael had open-heart surgery to repair the aneurysm at his aortic root.
“When life finally settled down a little, I pulled that piece of paper out of my wallet and called the number on it. Michael Shea and I talked for at least 30 minutes. It was so amazing to connect with another parent who knew what we were going through,” recalls Christine.
Christine and Carrie connected on social media. Carrie, with a few years in the trenches with GACI, became a lifeline for Christine. “When I had questions on something abnormal in Nora’s blood work, or I wanted to relate the details of her most recent echocardiogram, I finally had someone to turn to who would really get it,” says Christine.
“We understand each other in a way other people can’t,” echoes Carrie. There’s no need to provide endless explanations of medical tests, dietary restrictions or emotional heartache. Their conversations go straight to the heart of matter—a precious gift for all four parents and their children.
Michael bounced back quickly from his open-heart surgery. When Nora was four months old, an echocardiogram showed that the bisphosphonate treatment was working. Doctors continued her treatment, first via infusion and then orally, until she was 23 months old. After more than a year of emails and phone calls, the O’Brien-Lemanski and Shea families met in person when Nora was 20 months old.
“Seeing our kids play together means so much to us. We don’t know the battles they’ll face in the future,” says Carrie. What the families do know is that they have each other.
“It was so good for my heart to finally be able to put my arms around the family who was able to provide us with a beacon of hope during one of the darkest periods of our lives,” says Christine.
Callum, the only person in the world with both LDS and GACI, is a happy 4-year-old. Among children with GACI, he is the rarest of rare. He not only survived but also never needed treatment beyond shoulder surgery to remove calcium deposits. Ella and Nora are thriving. All three children are monitored regularly by teams at Boston Children’s.
“This story could have had a very different ending,” says Christine. “Being told that your baby has a terrible disease and might not survive gives you perspective. We really appreciate every moment with our kids because we know they might not have happened if we weren’t so lucky. The doctors at Boston Children’s saved the lives not only of my sweet boy and darling girl, but my husband as well. It was due to them that the three most important people in my life received the right diagnoses and proper treatment before it was too late.”
As Mother’s Day approaches, both Carrie and Christine have a simple wish for their children—health and happiness.
Much like Carrie provided support for Christine during her darkest days, Christine is helping other families connect with each other. She’s started a Facebook community for families whose children have been diagnosed with GACI. “Her one act, starting the Facebook community, has changed so many lives,” says Carrie.
Learn more about Family Resources at Boston Children’s.