Ella was diagnosed with ENPP1 Deficiency while still in utero at 30 weeks. When she was born three weeks later, doctors were prepared to handle the additional medical needs she required. Ella spent three months in the neonatal intensive care unit (NICU) and, with the help of her parents, has been monitoring her ENPP1 Deficiency ever since.
A Diligent Doctor
Carrie and Mike describe their family – “two kids, two dogs, and two semi-grownups” – as being busy, hectic, crazy, and normal. The pair smile and laugh as they talk about their children, Ella, who is 11, and Parker, who is five, while the dogs snooze at their feet.
They like to be an active family, spending their winters skiing and summers at the beach. They also like to go on bike rides together and Parker is currently learning to ride without training wheels. Outside of school, Carrie and Mike shuttle Ella to horseback riding, art club, field hockey and guitar lessons.
Self-described as joyful and brave, it’s difficult to tell that Ella deals with two rare genetic conditions: generalized arterial calcification of infancy (GACI) and phenylketonuria (PKU). When Carrie was pregnant with Ella in 2011, her symptoms were what she expected in a first pregnancy: she was exhausted and nauseous during the first trimester, but otherwise had no concerns to raise to her doctor.
However, as Carrie’s pregnancy progressed, her obstetrician-gynecologist (OBGYN) noticed on ultrasounds that Ella had a thicker neck fold. That can be a marker for various health conditions and Carrie’s doctor recommended additional testing.
One of these tests was an amniocentesis, which is used to diagnose genetic disorders such as Down syndrome and neural tube defects such as spina bifida. Carrie says they were relieved when the results were negative, but her OBGYN remained uneasy and worried about low birth weight. “This doctor was unbelievable. She did her due diligence and had us go in for a late-term ultrasound which is very rare,” Carrie explains. Carrie and Mike agreed to the ultrasound because they thought it would be fun to see their baby again. They had no idea how crucial this exam would be.
During the ultrasound, their technician became alarmed when he saw bright spots around their baby’s heart. Mike recalls the technician took numerous images, mumbled something about calcium, told them he had to talk to someone, and left the room. Mike says they pulled out their phones and searched the words calcium, heart, and ultrasound on the internet. “And boom, one of the first things that popped up was GACI.”
“And boom, one of the first things that popped up was GACI.”
Carrie, Ella’s mother
A Terrifying Diagnosis
GACI is caused by ENPP1 Deficiency and results in the body having low levels of a substance called pyrophosphate in the blood. Pyrophosphate helps control calcification. Without enough pyrophosphate, calcium builds up in the walls of blood vessels.
The ultrasound technician urged Carrie to go to the hospital immediately. Mike says it was Friday the 13th, and they felt like their lives had blown up. The diagnosis was confirmed by the cardiologists at the hospital. “In many ways, we were handed a death sentence for our child. They obviously did not want to say that to us, they wanted to give us hope, but it was an awful day that I think we’ll never really move past.”
Within a few days, Carrie was admitted to the hospital for monitoring. Over the next three weeks, she underwent daily tests to track Ella’s development and stress levels. Doctors gave her steroids to boost Ella’s lung development and they met with all different types of physicians on how to save Ella’s life. “They were putting up posters around the residents’ floors to try and stimulate different ideas and ways that we could handle this and manage it,” Carrie recalls.
Amid all the uncertainty and concern, Carrie and Mike were grateful to be surrounded by an intelligent and collaborative medical team. Doctors theorized about treating Carrie with bisphosphonates, a class of drugs used to treat osteoporosis, to slow the calcium buildup, but decided against it, figuring the drug wouldn’t pass through the placenta. Today, when doctors diagnose GACI in utero through ultrasound and genetic testing, this pioneering early intervention is used to prevent fetal blood vessel and organ damage. However, in 2011, all doctors knew to do was watch and wait.
Ella’s Arrival
At 33 weeks, doctors told Carrie and Mike that Ella’s stress levels had increased, and they immediately began prepping Carrie for an emergency cesarean section. Mike says the delivery happened so swiftly that when he cut the cord, he wasn’t sure whether Ella was a boy or a girl. The surgical team took pictures and held their tiny, pink girl up for Carrie to see before quickly swaddling her, placing her in an incubator, and rushing her to an ambulance. Mike rode with Ella across the street to the children’s hospital. There, doctors began treating her with an intravenous bisphosphonate.
A second rare genetic disorder
In the meantime, a heel prick blood test done on every newborn came back positive for another genetic disorder, phenylketonuria or PKU, a condition where the body doesn’t produce an enzyme needed to break down protein from food. Their medical team was so shocked that it ran the test three times, but each returned positive. “As far as we know, she’s the only person alive or ever living that has both of these conditions,” Mike says. This meant Carrie could no longer nurse because breast milk contains high levels of protein, and Ella would have to stick to a strict diet for the rest of her life.
The initial bisphosphonate treatment provided some results but not enough. Doctors planned to switch Ella to a more powerful bisphosphonate but couldn’t because she developed severe inflammation of the gastrointestinal tissues common among premature babies. “They assumed that because of the calcification in her arteries, she had reduced blood flow to her gut, and her gut shut off. So, they couldn’t give her the stronger medication because it’s only available as an oral medicine.”
Going Home
During the nearly three months Ella was monitored in the NICU, Carrie and Mike slept at Mike’s sister’s house and spent all the time they could with their baby girl. The NICU nurses stuck tiny pink bows to Ella’s short, fine hair. Carrie shared her favorite music with her daughter, letting the vibrations lull Ella into a state of calm.
It took two and a half months for Ella’s intestines to heal before they could try the stronger treatment. It was slowly given to Ella using a droplet to prevent her gut from responding negatively again. Mike recalls, “At this point, we are just as frazzled and fried as humanly possible. And they took us in to see an x-ray result and it was the best day of my life. You could barely see any of the calcium around her heart.”
Two days later, at nearly three months old, Ella was allowed to go home for the first time – both an amazing and frightening prospect for her parents. “Ella had been plugged into a million different machines since the second she was born. And now we were just unplugging her. And this team of nurses that had led us through every step was no longer there. It was just up to us to care for her.”
When she was a baby, Carrie and Mike brought Ella back to the children’s hospital four times a month to visit specialists. As she has grown, the frequency of visits has reduced. Now at 11-years-old, Ella visits specialists at the hospital around four times a year.
Growing Up With GACI
Like many kids with GACI caused by ENPP1 Deficiency, Ella has hypophosphatemic rickets, a condition that causes the bones to become painfully soft and bend easily due to low levels of phosphate in the blood. She takes two oral medicines to support her bones and medications to control the GACI. She also follows a strict low-protein diet for her PKU.
Ella has good and bad days but, for the most part, isn’t fazed by all the medications, lab tests, doctor visits, and food limitations. Carrie says, “We have discussed GACI with Ella in small steps. We don’t want to overwhelm her, but we want her to understand what’s happening to her body so that she can play more of a role in her medical decisions.” They expect the impact of GACI on her bones to become more apparent as Ella grows older.
Ella is open with friends and classmates and does her best to educate them but says she doesn’t always know the right medical terminology or abbreviations to use when she explains things. Her advice to other kids with GACI for dealing with all the blood draws, and other medical tests is, “Just keep calm and it’s over in a minute. I know that sounds horrible if you’re little because it’s still super hard, but just try your best and be brave. That’s all you really can do.”
Her dad calls Ella “the most emotionally intelligent child – maybe even person – I’ve ever known.” Her mom describes Ella as a good, kind human.
Ella says she wants to share her story because “not a lot of people know about this stuff and that’s the reason why it was so hard for me and other people with GACI to be diagnosed. The more people know about it, the more people can help.”
Giving Back
When Carrie reflects on how she and Mike were able to get through the devastating diagnosis and Ella’s first few months, she credits many people with saving Ella’s life, starting with her OBGYN. “There’s absolutely no doubt that without that ultrasound, her heart would have been ravaged by this disease, and I don’t think we would be here today.” Early testing and diagnosis made it possible for them to seek help. She credits the team of doctors, geneticists, and researchers at the children’s hospital for coming up with a treatment plan to save Ella’s heart and other organs, and is grateful for the nurses who cared so well for Ella.
Over the years, Mike and Carrie have been a lifeline to other families with babies born with GACI. They’ve shared information, contacts for the few doctors who have treated GACI patients, and their own experience with treatment. Carrie and Mike have even offered their personal phone numbers to families. That’s how Christine O’Brien, who helped found GACI Global in 2019, connected with them.
Since its founding, GACI Global has become a vital resource for the GACI and ARHR2 communities. Though Carrie and Mike had been navigating life with GACI before GACI Global was formed, they find great support and resources within the organization. “GACI Global has been a game changer,” says Carrie. “As disheartening as it can be to see new members join and hear about their losses and struggles, I would hope that the fact that they have a community to help carry them through this impossible situation helps.”
Mike agrees with Carrie’s sentiment and has enjoyed seeing GACI Global grow over the last few years. “Everyone is going through the same process that Carrie and I went through; although now, they are armed with support from other families living with GACI, connections to doctors, information about treatments, and access to seminars and forums.”
Her parents know how fortunate they are that Ella’s alive and thriving and are deeply grateful. Carrie says, “I’ve cherished watching her grow up, watching her develop passions for things, and excel in certain areas. She’s found her own voice and lane.”
Ella has this advice: “What I want people to take away from my story is just to remember to be strong if you’re going through something. Remember that if you are brave and strong and look to other people in your life, you can push through it.”
