“They kept my daughter alive. I want to give back and help other people have the same kind of care we’ve had,” says Staci Budde.
Averi Budde, her 7-year-old daughter, is well known at SSM Health Cardinal Glennon Children’s Hospital. She was born with five heart defects, strabismus and a rare chromosomal deletion, which may be responsible for her immune deficiency.
To give thanks for the gifts of Averi’s health, her family formed the Averi Budde Foundation to raise funds that assist other children with congenital heart disease. In the past three years, the foundation has donated more than $50,000 to the Dorothy and Larry Dallas Heart Center at SSM Health Cardinal Glennon.
Staci and husband Ryan also have become Glennon Ambassadors, volunteering their advocacy and time. “I’ve written ‘Messages of Hope’ for families and I helped with Glennon 101 last year,” Staci says. “I’ve gotten donations for the Food Truck and Code Lavender Cart.”
The Food Truck cart delivers snacks to parents on in-patient floors. The Code Lavender Cart holds treats for the nursing staff.
Staci visited Washington, D.C. in March on behalf of the Pediatric Congenital Heart Foundation to ask Missouri and Illinois legislators for increased federal research funding. “The earliest kids who have grown up with congenital heart diseases are living into adulthood and we don’t have any information to tell us how we can improve outcomes.”
Vicki Isom, Averi’s grandmother, created an annual fundraiser featuring horse-drawn carriage rides, music, barbecue, a silent auction and dancing. The 9th Annual Trail Ride and Family Fun Day will be September 12 at the family’s Blue Springs Ranch in Bourbon, Mo. Last year’s Fun Day was attended by 800 friends of Averi and other heart patients, as well as members of the Bourbon community and doctors and nurses from SSM Health Cardinal Glennon.
Averi’s story began when Staci and Ryan learned through a prenatal ultrasound that they would have twins – and Averi would have a combination of heart defects named tetralogy of Fallot with pulmonary atresia. The condition occurs about seven times in 100,000 births.
The Buddes were referred to Angela M. Sharkey, M.D., a pediatric cardiologist who specializes in prenatal diagnosis of heart disease at SSM Health Cardinal Glennon. She is a professor of pediatrics at Saint Louis University School of Medicine.
“She had no valve that would allow blood flow to the lungs,” Sharkey says. “She had her first surgery to place a tube graft that would allow blood to go from her aorta into the lungs.”
Averi has undergone five cardiac surgeries, four cardiac catheterizations and three ophthalmologic surgeries. “In general her health is good,” says Charles Huddleston, M.D., a cardiothoracic surgeon at SSM Health Cardinal Glennon and professor of surgery at Saint Louis University School of Medicine. “Her heart is not normal but it is functioning pretty well. She is a happy-go-lucky kid.”
Averi’s twin sister, Adison, has a normal heart. “We see many twins with one who has a normal heart and the other does not. It is more unusual to see twins who both have congenital cardiac anomalies,” Huddleston says.
Reconstructive surgery was performed on Averi’s heart when she was three months old. She has needed additional procedures to replace or open the conduit between the heart and lungs.
“Three years ago Averi was beset with repeated infections. Tests determined she had another serious health hurdle, hypogammaglobulinemia, an immune deficiency caused by low immunoglobulin antibody levels in the blood,” says Alan Knutsen, M.D. He is director of allergy and immunology at SSM Health Cardinal Glennon and professor of pediatrics at Saint Louis University School of Medicine.
“Kids with these immune deficiencies are prone to infections, have increased fatigue and sleep a great deal,” Knutsen says. “Once we start intravenous immunoglobulin that improves.”
Averi visits the infusion center at SSM Health Cardinal Glennon monthly for IVIG treatment. “She is doing very well, to the point that she is not having infections at all,” Knutsen says. “At school Averi ran a quarter-mile in gym class, which is pretty awesome,” says Staci.
It is not known whether Averi’s chromosomal defect – a partial deletion of chromosome 19 – caused her heart defects or immune deficiency. “She was the second kid ever found with that deletion,” her mother says. “The geneticists said they have zero idea what this chromosome does.”
That deletion has not been linked to heart defects, Huddleston says. “It may be related, but the findings have not been consistent.” As for the immune deficiency, “We can’t tell for sure,” Knutsen says. “Many chromosomal defects have not been evaluated for contributions to immune deficiencies, and hypogammaglobulinemia is not rare.”
Averi’s life includes gymnastics, cheerleading and dancing — ballet, tap, jazz and hip-hop. On her last visit to the hospital, she skipped into the infusion center and jumped into a nurse’s hug.
“It is like family here,” Staci says. “Everybody knows Averi and is so gracious. I want to reach out to other parents and let them know things are going to be okay.”