Sienna’s Story – United States

Facing The Uncertainty of GACI 

Two-and-a-half-year-old Sienna greets everyone with a smile and an enthusiastic, “Hi!” That’s quickly followed by the assertion that Frozen is her favorite movie as evidenced by the princesses adorning her clothes, which she proudly points out. Sienna’s mom, Jean, listens in amusement as Sienna dances and shows off her nails, painted pink, which is – you guessed it – her favorite color.     

As the youngest of five children, Sienna has competition for attention, but she doesn’t seem to struggle to stand out. She bounces from room to room looking to be part of the action wherever it’s happening. In between her mom’s sentences, Sienna interjects with whatever crosses her mind.

As it turns out, Sienna does get a bit more attention than her siblings. This is because she lives with a rare condition called generalized arterial calcification of infancy (GACI) caused by ABCC6 Deficiency, also known as GACI Type 2. Her health requires constant attention and diligence from her family and her doctors.

Fierce and Ready

Jean did not notice anything amiss when she was pregnant with Sienna, her third child. They had a midwife and a plan. They were ready. 

And so was Sienna. One day, experiencing what felt like merely a stomach ache, Jean was already in labor without realizing it. When it became apparent to her and her husband that Sienna was on the way, they called their midwife. Recognizing the urgency, the midwife smartly decided to guide the couple through the birth over the phone. Jean delivered Sienna, aided by her husband, at home in the early hours of November 4, 2019. “She came into this world fierce and ready,” Jean says of Sienna, traits she would soon need. 

In a day, everything changed

Sienna was developing normally through her third month of life, but things changed suddenly. One night, she had difficulty sleeping. “In the morning, she kept crying. She was inconsolable,” Jean says. Her husband took over care duties because Jean had been up all night. He noticed that Sienna kept having little tics, something he had not seen before. “We took her to an urgent care center two cities over,” Jean says. “As soon as they saw her, they had us emergency transferred to the hospital.” There, the doctors performed a multitude of tests and eventually determined that Sienna had suffered a stroke. 

Eventually, the doctors got her seizures under control, and the family went home. “We had appointments after that to follow up to find out why this had happened,” Jean says. “We did a genetic test and that is how we found out she had GACI.” Her parents learned that they were carriers of the ABCC6 gene mutation. GACI Type 2 makes it difficult for the body to control calcification. Sienna’s stroke was caused by calcification in her carotid artery, which runs up the side of the neck. 

Sienna’s medical team grew as they worked through the diagnosis and treatment. Her primary doctor was an endocrinologist. Others on her team included a hematologist, who specializes in blood issues, a geneticist, and a neurologist, a doctor who specializes in conditions that affect the brain, spinal cord, and nerves. 

Going into survival mode

Once they received the diagnosis, Jean recalls that the family went into survival mode. They had to be nimble to handle what came next. “It was a whirlwind,” Jean says. “One thing after another.”

Importantly, Sienna started treatment. Her endocrinologist prescribed sodium thiosulfate (STS) infusions five times a week, which helps remove calcium from the body. The doctors put a port under Sienna’s skin so it would be easier to give her these treatments and, as Jean says, “they wouldn’t have to poke her every time.”

They also worked out a schedule. “We were going to the hospital every day for Sienna’s infusion,” Jean says, “and then eventually, we got home health on board, and they came to the house three days a week.” Unfortunately, infections in and around her port interrupted Sienna’s infusion schedule several times during a year of treatment, requiring extended hospital stays. She stopped those treatments after a year; however, Sienna’s parents and doctors remained vigilant in monitoring her health because the impact of GACI Type 2 never goes away. 

Constant Vigilance

Managing Sienna’s medical needs is a big job. The family can’t always plan to do things because of Sienna’s schedule or the potential sudden need to drop everything and rush her to the hospital. She went a long time without seizures but when they returned, doctors put her on a low dose of medication. She also takes aspirin every day to help prevent strokes.

Sienna has scans every three months and sees a specialist every six months. Recent scans have shown some calcifications that may be new, with some possibly in her heart. “Right now, everything is still fine, but we don’t know what the future will bring.” As they take it day by day Sienna periodically sees a nephrologist to monitor blood pressure issues, a gastroenterologist to watch for problems with her digestive system, a cardiologist to monitor her heart, and a primary care doctor when needed. Jean and her doctors are also considering if she should see an ophthalmologist since there can be some issues with the eyes arising from GACI.

Grateful for support

Even with Sienna’s medical issues, life must go on for this big family. Jean’s husband still needs to work. The older kids still need to go to school. Jean is grateful that her family lives with her in-laws. She and her husband can handle Sienna’s needs knowing that the grandparents can watch her older siblings.

Support also came from an unexpected source. Jean learned that a friend of a friend had a child with a different, difficult medical condition, and the two children were treated 

at the same hospital. Jean put together a care package for the other mother, and the two women became fast friends, bonding over their children’s special needs. This friendship gave Jean comfort and someone else to talk to when dealing with Sienna’s needs. 

GACI Global, the advocacy group for individuals and families affected by GACI/ARHR2, has also been a help to Jean.  Through the organization she learned about other families’ experiences and other children with the same disease.  Her connection with the GACI Global community helped Jean to develop a better understanding of the condition, its possible impact, and other ways to cope with the strains put on her family. 

Sienna’s physicians originally planned to stop scans after she turned 1 year old, with the idea that calcification does not develop past the first year of life.  However, support and information from the GACI Global network empowered Jean to advocate for continued regular imaging to stay on top of any increase in calcifications.

Hopes for the future

For now, Jean and her husband are doing all they can for Sienna. They care for her, their family, and each other, and take each new challenge as it comes. “Sienna’s life is like a waiting game,” Jean says. As they face uncertainty as Sienna grows older, Jean is thankful to the hospital, the church, and her family for providing support along their journey.

Through sharing their experiences, Jean wants to help future families navigate a GACI diagnosis and provide physicians with more understanding of the condition. “Hopefully other families in similar situations will be more prepared because we’re raising awareness for the disease and contributing to research.”