ISOLATION and INSPIRATION Life-saving transplant on hold for PF child
Courtesy photo Alexandria Cresci’s mother, Kayla, calls her 4-year-old daughter a “walking miracle.” The girl has to be kept in isolation to not acquire an infection or virus, due to having a rare disease called complete DiGeorge Anomaly.
Alexandria Cresci, a Post Falls 4-year-old, is awaiting a thymus transplant. Most children with complete DiGeorge Anomaly, a rare disease, die by age 2 if it isn't treated. (Courtesy photo)
POST FALLS — You'd never know by looking at vibrant 4-year-old Alexandria Cresci that she could easily be one little virus away from death.
The Post Falls girl with long hair and dark brown eyes is battling complete DiGeorge Anomaly, a disease that affects just one in about 300,000 infants.
Babies with the disease are born without a thymus gland in the neck. They generally die by age 2 if it's untreated.
"Alexandria is truly a walking miracle," said her mother, Kayla Cresci. "She's your typical 4-year-old but with no immunity. She has an imagination of her own and always has us laughing and keeping us on our toes."
But one thing isn’t typical: Alexandria can’t be around children outside her family. To avoid viruses and infections, she can go only to and from doctor appointments.
"We have lived in isolation for three years," Kayla said.
Transplants for Alexandria's condition are offered at only one facility in the country — Duke University Hospital in North Carolina — and that program has been stalled for the past year while awaiting FDA approval.
"It has been a clinical trial since 1993, but the program closed because the FDA now wants it done to their standards," Kayla said. "Alexandria was approved for the transplant when the program was shut down in 2018."
Kayla said she believes eight children are awaiting a transplant.
Kayla said she has heard that the program at Duke will resume this year, but there’s no guarantee.
"Since we've been waiting, there have been three infants lost due to infection," Kayla said.
Kayla is hopeful that Alexandria will be at or near the top of the transplant list because she’s older than most of the children.
Even when Alexandria is taken to doctor appointments, precautions such as wearing masks and special clothing are taken by both family and medical staff to ensure she doesn't receive an infection.
Kayla said she first became concerned about Alexandria at her one-year wellness check, when she had a reaction to a vaccination. There were no signs of the disease to that point.
"Her blood levels were also off, and it seemed like we were at Sacred Heart (in Spokane) every week after that for fever or an infection," Kayla said. "We were always trying to find out what was wrong. We felt like we were so close yet so far."
Finally, in September 2016, Alexandria was diagnosed with complete DiGeorge Anomaly.
"We have been awaiting a transplant for more than two years now," Kayla said.
The disease has led to other complications along the way.
It triggered a rare inflammatory skin condition called Sweet Syndrome that landed Alexandria in an intensive care unit. The family recently returned home after Alexandria spent eight months receiving treatment at Seattle Children's Hospital.
Alexandria also has acquired a chronic kidney disease because of long-term medication that requires her to stay hydrated and receive meds through a tube in her nose, Kayla said.
"She was also dependent on the tube for food, but we've gotten her back to eating normally," Kayla said. "She takes about 20 medications a day."
Kayla said that despite the challenges, she and her husband, A.J., have a lot to be thankful for, including their 2-year-old son, Anthony, not having the disease.
In hindsight, Kayla said, the family could have easily lost Alexandria before she was diagnosed with the disease.
"The only saving grace was not having many people around and we did not put her in daycare," Kayla said.
The couple corresponds online with other families dealing with the same situation for support. Children who have the transplant have about a 70 percent success rate, Kayla said.
"It's been quite the journey waiting this long and it's definitely tested our patience and willpower," Kayla said. "We do our best and hope and pray that one day Alexandria will have her thymus and she'll be on her way."