Sharon’s Story – United States

Too Little Too Late: A Mom’s Plea for Improved GACI Screening 

Sharon’s passion for children shines in her work as a medical assistant in pediatric neurology. Although she loves working with kids, she was unsure about whether she wanted to become a parent herself one day. 

Growing up, Sharon spent a lot of time with her older sister, Carissa, who was just one year older than her and was born with a genetic condition called spina bifida. Sharon quickly became familiar with the needs and extra care that a child living with a genetic condition can require. At 18 years old, Carissa was diagnosed with another rare genetic condition, amyotrophic lateral sclerosis (ALS). She passed away a few years later at 21. After that experience, Sharon found it difficult to imagine having kids and raising a family; however, after many years of reflection, Sharon decided that she did want to become a parent.

Sharon first became pregnant at 33 years old but experienced a miscarriage at 16-17 weeks. A few months after, she became pregnant again and gave birth to her oldest child in July 2016. Two years later, she gave birth to Levi. 

“Parenting is a crazy rollercoaster journey. When you think you’re finally getting it, you hit a curve and it starts all over. It requires a lot of self-development and patience, but it’s also the greatest thing that I’ve ever done.”

Due to devastating circumstances, Sharon’s time with Levi was short lived. Levi passed away at just three months old after a sudden cardiac arrest. Sharon later learned that Levi had generalized arterial calcification of infancy (GACI) caused by ENPP1 Deficiency, a rare genetic condition that causes calcium buildup in the body.

The pain of losing a family member to a rare genetic condition is something Sharon experienced before with Carissa. The pain of Levi’s death still lives with Sharon every day, but she shares Levi’s story with others to raise awareness for GACI and spread hope that one day families who give birth to children with GACI won’t have to experience the same loss.

Early Arrival

Sharon’s pregnancy with Levi was comfortable compared to her oldest son. Due to her age, previous miscarriage, and prior c-section, she was considered high-risk. She was monitored closely and received additional OBGYN care. She was very tired during her pregnancy with Levi, but attributed that to chasing around her toddler. Even with the increased medical attention, no one suspected anything unusual with Levi or questioned his health.

Like his older brother, Levi decided to show up early at 36 weeks in March 2018. Levi weighed around five pounds. Medical staff had some concerns about his breathing since his lungs were not fully developed. He struggled to feed and had jaundice, a condition that most often occurs in pre-term babies that indicates the baby’s liver cannot clear waste in the bloodstream and can cause the infant to look yellow. Due to these concerns, Levi was transferred to a specialized children’s hospital where he was admitted to the neonatal intensive care unit (NICU). 

Sharon said, “There were no other signs or symptoms that anything was wrong. He was just an early baby trying to catch up.”

Sharon jumped into pumping breast milk for Levi, taking care of her toddler, and commuting more than 40 minutes each way to visit Levi daily in the hospital. In the NICU, Levi was fitted with a feeding tube and put under lights for the jaundice. 

To her relief, Levi quickly improved. Two weeks later she was excited to bring Levi home to her mom’s house, and to bond with him without the wires, sounds, and stresses of the NICU. Upon packing Levi into his car seat she thought, “Okay, everything’s good now. We’ve just crossed one hump, now onto the next one.”

Life After the NICU

That hump was juggling caring for an infant and a toddler. Luckily, Sharon’s family was very supportive and, as a stay-at-home mom at the time, Sharon could focus her time and energy into caring for her boys. 

But Levi continued to struggle. Even with correction of a tongue tie, a tight band of skin under the tongue that can restrict movement, Sharon couldn’t get Levi to eat. After a few weeks of consulting with lactation specialists, pumping, and consistently encouraging Levi to breastfeed, they fell into a breastfeeding routine. Levi was gaining weight, and everything seemed to be going well – so well, in fact, that Sharon and the father of her children decided to move out of her mom’s house to a farm in Vermont about four hours away. At around one month old, and with permission from his doctor, Sharon took Levi and her oldest son to Florida to visit some family before settling into their new home in the Vermont countryside.

Then, a surprise came during Levi’s first physical. The doctor detected a slight heart murmur … but Sharon thought this is something that would have been detected in the NICU. Not overly concerned, the doctor said he would send in a cardiology referral and Sharon should expect a phone call soon.

A Turn for the Worse

Before the cardiologist could even reach out, Sharon noticed Levi’s breathing was not right after a difficult night where he could not latch during feedings. With his condition quickly worsening, Sharon and Levi’s dad threw both of their kids in the car and sped to the nearest emergency room. Sharon said, “I just remember rushing in there with a baby carrier, screaming, ‘My baby’s not breathing, my baby’s not breathing. He needs to be seen.’ I was crying and so frantic.”

With Levi in the midst of a cardiac arrest, medical professionals immediately began trying to resuscitate him and get him on a breathing machine; however, they could not stabilize him enough to travel by helicopter to the children’s hospital in the next state. Levi had too much brain damage and there was nothing more they could do.

Sharon and Levi’s dad were left to say their goodbyes to Levi. “We got to hold him for a little bit. I’m not really sure how that works, but I think you should be able to hold your child longer, even if they’re not living.”

Finally, a Diagnosis

Levi’s autopsy report finally revealed that he had undiagnosed GACI. The autopsy showed significant calcification around his heart.

GACI, which occurs in 1 out of every 64,000 pregnancies, was a foreign term to Sharon. “It literally felt like I hit a wall. I never heard of this. I don’t know what this is. Nobody else seems to know what this is, and that was really scary.”

While she learned about Levi’s rare condition, she thought of Carissa’s experience with two inherited conditions, spina bifida and ALS. It seemed like her family was prone to inheriting genetic conditions.

Genetic Testing

Sharon and her partner were encouraged to go for genetic testing after Levi’s diagnosis and they both learned they were carriers of GACI. When reflecting on the circumstances of the miscarriage during her first pregnancy, Sharon believes GACI could have played a factor then, too. 

Because GACI is an autosomal recessive disorder, Sharon and Levi’s dad were told that any future children would have a 1 in 4 chance of being born with GACI. A couple years after Levi’s death, Sharon gave birth to her youngest son who, thankfully, has yet to show any signs of GACI. Sharon wants genetic testing for both sons for reassurance and to see if they are carriers, something that will hopefully prevent a missing diagnosis, like with Levi.

Sharon says she has four children – two with her on earth and two in heaven. She talks about Levi and her first pregnancy openly with her two sons, now six and three years old. “Everybody has a name. Everyone came at a different time and some of them were born in different states. I’ll say, ‘They’re up in heaven and Levi had a booboo with his heart, and we miss him, and we wish he were here, but I’m happy that you’re both here and your heart’s okay. We need to make sure to take care of our health and each other.’”

Finding Hope in Community

After the devastating loss of Levi, Sharon found solace in the GACI Global community. She learned more about GACI, talked to other families in similar situations, and shared her own story. “If it helps somebody else, I’m all about sharing my story, whether it’s making someone feel a little less alone in their loss or talking about the need for screening methods.”

This experience inspired Sharon to find a career working with children in healthcare. After putting herself through medical assistant’s school, she now works with children in pediatric neurology. She also thinks about working in the NICU one day so she can help other babies like Levi.

Although Levi received all the care he possibly could at the time, Sharon wants more for children born with GACI in the future.

“How does living with this disease look moving forward? What can we do to try to screen and get earlier diagnoses? It would be nice to have some type of additional screening, whether it be genetic testing or something else, that is available during pregnancy, or a screening that can be done after the baby is delivered.”

Sharon thinks about Levi every day, and the short but wonderful time they had together.

“Levi was a beautiful child and a beautiful soul. He was a gift; he came early. Although he left us early, we were lucky to have spent time with him.”