Navigating a Continuum of Care for GACI: Natalie's Story

Natalie was diagnosed in utero with generalized arterial calcification of infancy (GACI), a rare but deadly disease in which calcium buildup clogs arteries throughout the body and impairs blood flow to the heart and brain. Natalie’s parents, Anne and Jerry, had previously lost two newborn sons to the same devastating disease — Reid in 2001 and Ian in 2010. 

Hope found along a cruel road

Both Anne and Jerry carry the recessive gene for GACI, which means their biological children have a one in four chance of being born with the disease. In between the losses of their sons, Anne and Jerry were blessed with three healthy children: son Drew and twins Julia and Graham. Then, during Anne’s sixth pregnancy in 2013, amniocentesis again revealed the horrifying news that their unborn child had GACI. 

Anne and Jerry vowed to do everything they could to save her. They researched their options and eventually flew to Philadelphia, where they met with a multidisciplinary team that included pediatric endocrinologist Michael Levine, MD, who founded the Center for Bone Health, and Fetal Heart Program cardiologist David Goldberg, MD. Levine embarked on an experimental treatment to save Natalie. He gave Anne an osteoporosis drug called etidronate, rarely prescribed because it blocks the calcification of bones. The medication traveled to the developing baby and halted the progressive arterial clogging. 

Natalie was born in April 2013 in the Garbose Family Special Delivery Unit at CHOP, the world’s first birth facility in a pediatric hospital for healthy mothers carrying babies with known birth defects. For her first year of life, Natalie was given infusions of sodium thiosulfate to reverse existing calcium buildup in the arteries — another pioneering GACI treatment that had never been tried on a newborn. She received her last infusion in May 2014; the calcifications in her arteries had receded significantly and her heart was healing. Natalie was growing and developing normally.

Lifelong monitoring and the continuity of care

One side effect of Natalie’s GACI is that she developed autosomal recessive hypophosphatemic rickets type 2 (ARHR2), sometimes called vitamin D-resistant rickets, a disorder in which the bones soften and bend because of low phosphate levels in the blood. Natalie was prescribed phosphorus and calcitriol in response.

Natalie will be monitored throughout her lifetime with lab work every four to six weeks to ensure the balance of phosphorus and calcitriol in her system promotes bone mineralization without resuming calcium buildup in her arteries. Besides quarterly appointments with her local endocrinologist and cardiologist, Natalie returns to Philadelphia once a year to follow up with Drs. Levine and Goldberg, who have followed her since birth. 

“The CHOP team has known her since she was a baby,” Anne says. “They know the care she has received. We return to the same radiologist, to the same CT machines for scans. It’s comparing apples to apples.”

Natalie’s shared-care arrangement showcases how CHOP partners with local hospitals and specialists to bring highly specialized care to children from all over the country who need treatment for rare but life-threatening diseases. Whenever Natalie has lab work or heart imaging tests done locally, her doctors share the results with the CHOP team, so everyone is on the same page.

A move brings new providers and expands connections

The shared-care model proved critical when the Van Wyk family relocated from Minnesota to northern Texas in 2018, when Natalie was 5. They needed to find local doctors in their new town who could take over Natalie’s monitoring. “

When we moved, the transition was hard,” Jerry says. “Because GACI is such a rare disease, few local doctors have direct experience dealing with patients who have it. But to have that continuity, to know that the CHOP team were alongside us the entire way … we felt such reassurance.”

This experience — maintaining a remote relationship with CHOP, finding new doctors in a new city, continuing monthly monitoring and advocating for a daughter with a rare disease — spurred Jerry and Anne in 2018 to co-found GACI Global, an online patient advocacy group with a mission to connect families of children with GACI to each other and to the specialized medical community. 

“We’ve met so many families through this group; some we only know on Zoom, but some we’ve met in person,” Anne says. “Most families who are dealing with this disease have never met another GACI patient.”

How the pandemic changed Natalie’s care

As it did with most things, the pandemic interrupted Natalie’s regularly scheduled regimen. Dr. Levine and the CHOP team overseeing her care suspended in-person visits in March 2020. The family made do with Zoom calls and telemedicine appointments. Finally, in September 2022, Natalie returned to CHOP in person for the first time in more than two years. “We missed going to CHOP, missed having a doctor we knew check her legs in person to make sure they are growing straight,” Anne says. “When we came back after that time away, I thought, ‘we are home.’”

A determined, spunky tween

Natalie’s parents describe her as an inquisitive, social kid who “loves life and loves people.” She swims and plays piano and tennis . The four-times-daily medication schedule and “a lot of doctor’s appointments” are regular reminders of GACI, and Anne admits Natalie can get “a little emotional and anxious” about the disease.

And yet. Making friendship bracelets. Riding her bike with friends. The sheer normalcy of Natalie’s childhood has been hard-won. Thanks in large part to Anne and Jerry, who have endured two devastating family losses. And who, when facing a third child with the deadly diagnosis, doggedly pursued a specialized medical team, and trusted the doctors at CHOP to craft a series of cutting-edge treatment plans that would help Natalie rewrite her script.

“There is nothing typical about what we’ve done here,” says Anne.