On this Rare Disease Day, meet Elowyn Peterson, who has brought joy and laughter into the lives of her young parents.
By Maureen Gilmer, Riley Children’s Health senior writer, mgilmer1@iuhealth.org
Breanna Peterson never imagined that the little boy she thought she was carrying would turn out to be a baby girl, but that’s just part of a wild story that dates back to when Peterson was a baby herself.
“I was a patient at Riley from the time I was 13 days old,” said the new mom, who was diagnosed with PKU (phenylketonuria), a rare disorder that causes an amino acid called phenylalanine to build up in the body. It can be controlled with medication and a strict low-protein diet.
When she got pregnant, she was following up with maternal fetal medicine at her local hospital near Versailles, Indiana, before transferring to Riley Children’s Health under the care of Dr. Melissa Lah, with Riley Medical and Molecular Genetics.
After genetic testing and an anatomy scan, it was revealed that Breanna and Taylor Peterson’s unborn child was not male but was missing her second X chromosome, leading to a diagnosis of Turner syndrome.
The rare disorder can cause medical and developmental problems, including short stature, heart defects, delayed puberty and failure of the ovaries to develop. Treatment can help, but the condition cannot be cured.
What was even more striking to the Petersons was that less than 3% of pregnancies in which the fetus is diagnosed with Turner syndrome result in a live birth.
Dr. Kundai Crites delivered 6-pound 10-ounce Elowyn Eunice Peterson via C-section at Riley on Oct. 15, 2023. The little redhead spent several days in the Riley Maternity Tower NICU before being discharged home.
“We had two wonderful NICU nurses, Brittany Lillie and Kendal Williams, who went above and beyond, making sure our girl was taken care of during her stay,” Breanna Peterson said.
The day Elowyn was discharged, the Petersons ran into Dr. Crites, who hugged the new mom and told her how happy she was to see them both doing well.
“It was so nice to see how much she genuinely cared for us,” Peterson said.
“We have loved every doctor and nurse she’s had so far. There are so many more positive experiences we have had along the way, too many to list. I was holding my sweet baby thinking of how incredibly grateful I am she’s here, and I wanted Riley to know how much it all meant to me,” the young mom said.
In the United States, about 30 million people – half of them children – are living with a rare disease, defined as disorders affecting fewer than 200,000 people.
The Undiagnosed Rare Disease Clinic at Indiana University School of Medicine, which sees patients at Riley Hospital for Children, is rare itself. It is one of just 40 clinics nationwide to be named a Rare Disease Center of Excellence by the National Organization for Rare Disorders.
Victoria Thomas, an advanced practice provider with Riley’s Perinatal Genomics program, said the team is working hard to bring awareness and establishment of genetic testing to assist in early recognition of childhood diseases. It is estimated that over 70% of rare diseases have genetic causes, and a majority are often identified in adolescence.
“Celebrating Rare Disease Day allows us to put Riley on the map as a local and national advocate to ensure our unique population is receiving the care and services they need,” Thomas said.
Elowyn, who follows with cardiology, nephrology and genetics at Riley, was back at the hospital this week for an EKG and echocardiogram to see how her heart is functioning.
She is dealing with multiple defects, including bicuspid aortic valve, banding around the mitral valve, mild aortic stenosis and a tiny ventricular septal defect (hole in the heart), but you couldn’t tell it by the way she wiggled and stretched and fussed during her echo test.
Nurse practitioner Maddison Barley reviewed the results and reassured Elowyn’s parents that their little girl looks good and is growing well. Time will tell if heart surgery might be needed as she gets older.
“She’s a wonderful baby,” Peterson said. “She is meeting all of her milestones. She’s funny and she’s happy and she loves to play. I think every single day about how crazy and amazing it is that she is here.”
Photos by Mike Dickbernd, IU Health visual journalist, mdickbernd@iuhealth.org
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