Noonan syndrome is a congenital disorder that causes heart defects (i.e. a narrowing of the valves) and other abnormalities, including short stature, indentation of the chest, facial deformities, lung, liver, and hematological problems, conditions such as epilepsy, and learning disabilities. It’s named after pediatric cardiologist Jacqueline Noonan, who quantified the condition’s symptoms in the 1960s.
In this interview, advocate Anne de Groot, whose son Casper was born with Noonans' in 2002, discusses the life-changing challenge of raising a child with Noonan syndrome.
Her journey began with an eight-month battle to convince doctors something wasn’t right, and over her son’s first six years, she’s struggled to find support and to learn enough about Noonans' to keep Casper alive and give him a chance at a normal life.
Helping Children With Noonan Syndrome
How was Noonan syndrome diagnosed in your son?
I knew something was wrong: (it was my fourth pregnancy) there was more fluid; I went into early labor. Casper suffered 11 weeks of misery: he lost weight and vomited constantly. One night he stopped breathing. All the doctors I’d seen attributed my suspicions to postpartum depression. Finally, an internist gave in, and an ultrasound and open-heart surgery discovered the specific heart defect that presents with Noonan syndrome. But specialists denied it was Noonans'. Casper’s heart was repaired but trouble returned. Later, genetic test results a doctor had ordered without telling anyone, which lay unopened for months, confirmed Noonan syndrome.
What did you do once Noonan’s was confirmed?
I found the Noonan Syndrome Support Group (TNSSG) online, and even tracked down Dr. Noonan, to whom I faxed my son’s diagnosis and medical history. She called me four hours later and asked me to send more info, but I decided to fly to Lexington, KY immediately.
How does Noonans' present in your son?
Casper has a heart problem and can spontaneously develop a Chylo Thorax, a leaky lymphatic system that can only be treated with drainage or medication. He’s slight for his age, has sight and hearing problems, as well as epilepsy, cataplexy, and narcolepsy, a compromised immune system, and problems with social interaction.
What’s the long-term prognosis for children with Noonan syndrome?
If taken care of, they can lead a normal life. There are post-graduates with the condition, and there are also people so sick they can barely move.
Why is the condition mentioned so rarely in the media?
The genes for Noonan syndrome were not identified until 2001. Much research is underway. TNSSG is trying to raise awareness.
How has Casper’s condition changed you?
I’ve had to do everything to keep Casper as healthy as I could. I have no medical training; putting a band-aid on a cut was risky business for me. I found information. I wanted to know everything about it. Now, I give him shots, I treat wounds; I’ve saved his life many times by knowing what to do.
How do you cope with the stress and logistical challenges?
It’s hard. My daughter’s in college and comes home on weekends to help out. We manage. My experience with Casper inspired me to open a home daycare center for special needs-children and healthy children, offering that little bit of extra care children need from birth to age two and a half, when they enter kindergarten.
What advice can you offer parents?
Never doubt a gut feeling about your child. Dr. Noonan agrees: if you listen to a mother long enough, she’ll diagnose the problem; listen more, and she’ll tell you how to treat it. Parents need to be confident in their feelings and learn to educate themselves.
Anne de Groot lives in Beersal, Belgium. TNSSG's next international conference takes place May 16-17 in the Netherlands.
Andrew Leibs - Andrew Leibs is Suite101’s Feature Writer for Accessible Recreation. He is a longtime chronicler of the disability movement with ...
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