Two weeks before Christmas 2012 it was time to begin the “to do” list for the busy holiday season. As I scooted up to our kitchen table with my growing pregnant tummy, I stopped a moment to answer the phone. Our perinatologist was calling to share the results of the amniocentesis. She cautiously said, “Your baby is affected with GACI.”

We wondered if our nightmare was beginning...again.

We had two baby boys born 10 years apart with Generalized Arterial Calcification of Infancy (GACI) and sadly they died within weeks of their birth. Reid Christopher was born in 2001 and Ian James in 2011. GACI is a rare genetic disorder affecting the vascular system causing calcifications to form within the walls of the arteries. It mainly involves the coronaries surrounding the heart, the aorta and the kidney vessels. As a result of the calcifications babies often do not survive beyond 6 months of age.

In 2004 we were contacted by researchers as they identified the ENPP1 gene mutation  causing GACI. My husband and I were genetically tested and discovered we carried the auto recessive gene mutation. With each pregnancy there would be a 25% possibility that our baby would be affected with GACI. It was devastating news as we both enjoy children and looked forward to having a family.

During the ten years between Reid and Ian we were blessed with three children a son Drew, twins Julia and Graham who were not affected with GACI. Our home was filled with these

 precious children and yet we had many heartfelt discussions about the possibility of having another baby. In spite of our significant losses, we felt strongly our family was not complete. As with each potential pregnancy, GACI stood as a giant before us. We again considered adoption, but through prayer and counsel decided we would add to our family. 

Were we crazy? Possibly!

In January 2013 we slowly emerged from the sadness and grief of receiving the amniocentesis diagnosis. Another ultrasound indicated calcifications progressing toward the baby's heart and kidney arteries. In utero the calcifications represented a severe form of GACI. We were happy to know the baby was a girl and seemingly otherwise healthy. However, there was concern she may not survive the pregnancy. We were compelled to fight...for her life.

Twenty eight weeks into the pregnancy, Jerry's research lead us to the Center for Fetal Diagnosis and Treatment at the Children’s Hospital of Philadelphia (CHOP). We flew to Philadelphia and met with Dr. Michael Levine the Chief of the Division of Endocrinology and Director of the Center for Bone and Health. We were amazed he had seen other patients with GACI. In fact, Dr. Levine was familiar with the course of the disorder and along with other researchers has written medical articles about GACI. He was also part of the team identifying the actual mutating gene causing GACI. This was all very reassuring.

With our medical history of losing two babies to GACI we were compelled to be proactive. We expressed these heartfelt concerns to Dr. Levine hoping something could be done during the pregnancy. He heard us and took our serious concerns to heart. He soon met with a medical team considering possibilities of treatment. Within one week he contacted us with a plan.

The medical team agreed to immediately start treating the baby in utero by giving me an oral medication Etidronate hoping it would stop the progression of the calcifications.There was no guarantee, however we were grateful the doctors were willing to try. They were comfortable prescribing Etidonate due to a medical study of fifty pregnant women resulting in no harmful side effects either to the mother or baby.  Etidronate had not been used prenatally for GACI but historically was given to women with osteoporosis.

On February 6, 2013 I moved 1200 miles from my family in Minnesota to Philadelphia.

At 30 weeks pregnant, I started taking 2 tabs of Etidronate twice a day. Weekly at CHOP I met with Dr. Juan Martinez-Poyer a Maternal-Fetal medicine physician, Dr. David Goldberg, a Cardiologist and Dr. Michael Levine, the Chief of Endocrinology. The testing involved lab work and an ultrasound monitoring the calcifications in the baby. Something miraculous began to happen as each week the ultrasound results showed the calcifications were not advancing.

Three months later on April 8th 2013,the miracle continued when Natalie Grace Van Wyk was born!!! She was beautiful. She was immediately transferred to the NICU and two days later began receiving Sodium Thiosulfate (STS) given by infusion through a central line in her chest. STS is primarily given to help the arteries of patients with kidney conditions. From what we understood, this was the first time STS had been given to treat a GACI patient.

There was daunting news was calcifications were also present in Natalie's coronary arteries measured by a CT scan. This was devastating because Reid and Ian died from similar blockage within the walls of THEIR coronary arteries.

At CHOP Natalie thrived in the NICU and 2 weeks later transferred to the Endocrine floor. Natalie was a fighter. At 5 weeks we all flew back home to Minnesota. I had been gone 103 days. CT scans indicated the calcifications in Natalie’s arteries were beginning to regress. This was fantastic news. However, we knew the next few weeks and months would be critical for her survival.

Once home, our baby girl continued to receive the infusions of STS five times/week. The infusions usually took an hour, with a minor side effect of her spitting up. She was monitored closely with frequent lab work, appointments with a local pediatrician as well as echocardiograms and EKG’s. Follow-up appointments at CHOP continued every 3-4 months until December 2014.

When Natalie was 3 months old there was another encouraging twist in her story. We received a call from Dr. William Gahl from the National Institute of Health in Bethesda, Maryland who pioneered the NIH's Undiagnosed Diseases Program. Dr. Gahl and his team were beginning GACI research and invited us to participate. Since 2013 the NIH genetic team has met 9 children that have been affected with GACI. Natalie has been able to connect her follow up appointments at CHOP with subsequent visits to the NIH. We are convinced that because GACI is such a rare genetic condition, participating in on-going research is critical.

Natalie celebrated her first birthday on April 8th, 2014--it was a very HAPPY day for us. We were joined by 100 friends and family as we celebrated Natalie's miracle. She is sociable, spunky, spirited and throughly enjoys being around people while bringing much joy to our family. We nicknamed her “Lovey” because she is so loving.

The infusions of STS were slowly reduced as calcifications continued to disappear. On May 18th, 2014 Natalie had her final STS infusion and her central line removed. She remains on an oral Vitamin D drop and ½ tablet of baby aspirin 3x's a week.

GACI patients are known to develop rickets, a vitamin D deficiency causing distortion of the bones typically resulting in bowed legs. Natalie’s physicians therefore are closely monitoring her Vitamin D and phosphorus levels. She has been developing normally and walking at 13 months. Her teething was delayed until 17 months which is possibly related to GACI. Natalie at age 2, with 7 teeth, is a very normal bright toddler with her weight, height, sleeping patterns and verbalization being on target.

We are sharing Natalie’s Journey of Hope to encourage and strengthen families. We know firsthand, with the death of Reid and Ian, each GACI story may not end well. Our hearts and prayers go out to any family whose child may not have survived GACI. It can be unspeakably heartbreaking. We want you to know you are not alone.

We are hopeful further research and learning from GACI children may provide answers and future treatments.

We would like to connect with your family. Please feel free to share your story and contact us at hopeforgaci@gmail.com or on the Hope for GACI Facebook page. 

-Anne and Jerry Van Wyk