Harper can’t sit still. The 6-year-old is a bundle of excitement as she twirls and bounces while answering questions about her family (4 siblings), her pets (2 dogs), the best parts of school (lunch and recess) and her favorite part of regular visits to Children’s Hospital of Philadelphia.

“We visit the cafeteria workers and get mozzarella sticks – with ketchup!” Harper says.

The snack is a small reward for Harper’s positive attitude and “can-do” spirit she displays everyday despite the health challenges she has faced since birth. 

Harper has Noonan syndrome, a genetic disorder that causes a multitude of symptoms including distinctive facial features, heart defects, short stature and skeletal abnormalities, as well as bleeding and lymphatic disorders. 

Thankfully, her family found experts at Children’s Hospital of Philadelphia (CHOP) who not only quickly diagnosed her as a baby but also treat every medical challenge Harper faces.

From the beginning

It was the fourth pregnancy for Harper’s mother, Christyna, and everything was going smoothly until the 20-week prenatal ultrasound. Doctors in York, PA, saw something unusual with the baby’s heart – tiny holes where there should be none. They referred the family to CHOP. 

At CHOP, enhanced imaging was performed and doctors confirmed the small holes, and the team “knew exactly what to do,” Christyna says. She was relieved to learn she could safely deliver at York Hospital near the family’s home in Mount Wolf, PA. Then, the newborn could be evaluated by a CHOP cardiac expert at CHOP Specialty Care Lancaster. 

Within days of her birth, baby Harper was seen by Matthew Elias, MD, and diagnosed with:

• Incomplete atrioventricular canal defect, a hole in the center of the heart affecting blood flow into the chambers of the heart; and
• Pulmonary stenosis, which makes it difficult for blood to flow into the lungs. 

Both conditions can cause a range of challenges including difficulty feeding, poor weight gain, swelling and fatigue – all of which Harper experienced in her first few months of life. Atrioventricular canal defects – holes in the heart that can affect blood flow – are also often associated with chromosomal abnormalities and genetic conditions.

The heart and feeding issues were the most troubling at first, Christyna says. Harper had trouble latching when breastfeeding. “I was pumping and nursing and giving her bottles and she still wasn’t gaining weight,” Christyna said. “She projectile vomited and cried all the time. This was my fourth baby, I knew something was wrong.”

The local pediatrician suggested Harper had colic, then perhaps a dairy allergy. Christyna cut all dairy out of her diet so she could continue nursing Harper. But Harper was not improving. Christyna was convinced something more was going on.

Seeking answers

Desperate for answers, Christyna googled Harper’s symptoms – looking for any genetic syndrome that might fit. At the same time, Harper’s pediatrician referred the family to the Genetics Clinic at CHOP.

Harper was about 10 months old when she met Elaine H. Zackai, MD, a senior clinical geneticist with the Division of Human Genetics at CHOP.

“I’ll never forget that meeting,” Christyna says. “Dr. Zakai walked into the room, looked at Harper and said, ‘Oh, I think she has Noonan syndrome. My guess is when we get the results back, that’s what it will be.’”

Genetic testing confirmed the diagnosis. Some call Noonan syndrome the most common of the rare syndromes, affecting about 1 in every 2,500 births. The syndrome is caused by mutations in several specific genes, but for about 25% of children with the disorder, the cause is unknown.

Children with Noonan syndrome can have distinct facial features: vivid blue or blue-green irises; wide-spaced eyes with skin folds that partially cover the inner corner of the eyes; thick or droopy eyelids; and low-set ears that sit farther back on the head.

With a confirmed diagnosis, CHOP set up appointments with a variety of specialists to better understand how the syndrome affected Harper and ensure she would receive the care she needed to grow and develop to her fullest potential.

A specialist for every medical concern 

The following months and years were filled with a series of visits to specialists including Rebecca Ahrens-Nicklas, MD, PhD, and Alyssa L. Rippert, MS, LCGC, with the Division of Human Genetics and the RASopathies Center, to explore how the syndrome may affect Harper and monitor her condition long-term.

Harper also saw specialists from:

• Cardiology, for ongoing monitoring of her heart conditions
• General surgery, for two minor procedures to address recurrent ear infections (ear tubes) and address heavy breathing while sleeping (adenoids removed)
• Developmental and neuropsychological specialists, to address developmental delays and ensure Harper had access to learning supports she needed
• Ophthalmology, for farsightedness
• Hematology, because kids with Noonan can have bleeding disorders and bruising issues
• Oncology, because the syndrome carries a higher risk of childhood cancer
• Endocrinology, because kids with Noonan often have growth issues
• Audiology, for base-line screening as children with Noonan’s can experience sudden hearing loss
• Urology, because kidney abnormalities can be common with Noonan syndrome

“All of the care from CHOP was so helpful – especially as Harper started school, and we needed to make sure she got the resources she needed,” Christyna said.

Getting to the heart of the matter

The summer before kindergarten, when Harper was 5, she had open heart surgery at CHOP to fix her atrial septal defects and pulmonary valves. Though surgery had initially been planned when Harper was 2 years old, it was delayed because she was stable and not showing any troubling symptoms. Her doctors and family jointly decided to wait until she was older, stronger and larger.

Surgery was a success and although Harper has a scar, it doesn’t seem to bother her, her mother says. 

Today, Harper is in first grade. She receives growth hormone shots every night and receives occupational therapy at school to help with fine motor skills like handwriting and coloring. But mostly, she’s a typical 6-year-old. 

“Her expressive language skills are great,” Christyna says. “She’s very, very social and will talk to anyone.” Harper loves meeting new people, crafting, singing, dancing and playing with her Barbies. 

Harper and her family return to CHOP every 6-12 months for checkups with cardiology, genetics, endocrinology and ENT. Her family expects her to live a normal life and accomplish things at her own pace. 

“Harper has a lot of joy in her life and is not easily discouraged,” Christyna says. “She says she wants to be a doctor – she knows the check-in procedure by heart, so it wouldn’t surprise me. With all the specialists she’s seen, I would not count her out.”