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Raising a Noonan syndrome child: an interview with parent advocate Anne de Groot: doctors dismissed her son's symptoms and her concerns until genetic testing vindicated her suspicion--and changed her life.

Noonan syndrome is a rare genetic 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 the following interview, parent advocate Anne de Groot discusses the life-changing challenge of raising a child with Noonan syndrome. Her son Casper, her fourth child, was born with the condition in 2002.

Her journey began with an eight-month battle to convince doctors something wasn't right. Over her son's first six years, she has struggled to find support and to learn enough about the condition to keep her son alive and give him the best quality of life possible.

What type of advocacy work do you do?

First, I never avoid speaking about my son's medical condition. People who meet me usually ask questions about my son and I am always willing to answer them. I'm very open about his condition. As a result, doctors familiar with Noonan syndrome often give parents of newly diagnosed children my contact details and I talk to them. I sometimes speak at schools. My work's strongest focus, however, is working for TNSSG (The Noonan Syndrome Support Group) in Europe, for which I try to create awareness by organizing meetings and conferences. The last one (in the Netherlands in May) drew doctors and families from throughout Europe and the United States.

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How was Noonan syndrome diagnosed in your son, Casper?

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. I'd seen seven doctors, all of whom attributed my suspicions to post-partum depression. Finally, an internist gave in, and an ultrasound and open-heart surgery discovered a specific heart defect that presents with Noonan syndrome. Still, specialists said it wasn't Noonan syndrome. Casper's heart was repaired but trouble returned. Later, genetic test results that the internist had ordered without telling anyone, which lay unopened for months, were discovered and confirmed Noonan syndrome.

What did you do once Noonan syndrome was confirmed?

The genetics counselor told me to go home and "go with the flow." I couldn't accept that; I instinctively felt that there was more to the condition than they told me. I went online and found the Noonan Syndrome Support Group (TNSSG) and even tracked down Dr. Noonan, to whom I faxed my son's diagnosis and medical history. She called me back a few hours later and asked for more information, but I decided instead to fly to Lexington, KY immediately. She was the first person who explained to me thoroughly what Noonan syndrome is.

How does Noonan syndrome present in your son?

Casper has a heart problem and can spontaneously develop a Chylo Thorax, a leaky lymphatic system that can be life threatening and can only be treated with drainage, medication, and diet. He's slight for his age, but started growth hormone therapy in January 2008. He has sight and hearing problems, as well as epilepsy, cataplexy, and narcolepsy, a compromised immune system, and problems with social interaction.

What techniques have your discovered or developed that help Casper cope with his condition?

I never hid anything from him. I act as normal as possible and now, as he is getting older, I prepare him for every doctor's appointment by telling him what is going happen. I ask the physician to address him personally. He realized that he looked different from other kids and I explained to him in a simple way that he is very special and gave him a brief explanation about Noonan syndrome. Now, when kids ask him why his eyes look funny, he simply tells them that their eyes don't look "normal" either in a funny way. Adults with NS tell me that, as children, not being told about their condition made them feel left out and thinking the worst about themselves. I never wanted that for my son. He needs to feel that he is who he is--not a medical condition, but a person.

What's the long-term prognosis for children with Noonan syndrome?

If taken care of, children with Noonan syndrome can lead a [fulfilling] life. There are post-graduates with the condition, and there are also people so sick they can barely move as well as people who die at a young age. Depending on the symptoms, people with NS can have a [typical] life span, though there is no hard data on this, since each individual case is unique.

Why is the condition mentioned so rarely in the media?

The genes for Noonan syndrome were not identified until 2001. Much research is underway. So far, six genes have been found, but there's still more to discover. The Noonan Syndrome Support Group is trying to raise awareness.

How has Casper's condition changed you?

My life went through a complete metamorphosis. I've had to do everything to keep Casper as healthy as I can. 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 the condition. Now, I give him shots and treat his wounds; I've saved his life many times by knowing what to do. I now have a different lifestyle and expectations, but life is so much more valued than it was before. I take nothing for granted anymore and try to live life to the fullest, enjoying and being grateful for every day.

How do you cope with the stress and logistical challenges?

It's hard at times. My daughter is 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 (in Belgium) they enter kindergarten. Since I work from home, Casper is with me when he's not in school. I had to quit my job working for an airline almost two years ago, but instead of having a dream job, I now have the job of my dreams and I enjoy that every day. I guess the most frustrating part is when, as a parent, you see that something is going on with your child and no one else does, especially doctors. Just suggesting that I had a child with Noonan syndrome prompted one doctor to diagnose me as having Munchhausen by Proxy syndrome--that I fixated on this rare condition just to get attention. Since Casper bruised so easily, it was obvious his case warranted an investigation. That was a really hard time. I still struggle to make doctors see what is going on with my son, a complaint I hear regularly from other parents, too.

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; if you listen to her more, she'll tell you how to treat it. Parents need to be confident in their feelings and learn to educate themselves. Always believe in yourself and when your child gets older, be involved in their appointments and treatments. Building self-esteem is, I think, more important for these kids than for almost any other child.

The next Noonan Syndrome Support Group conference is scheduled for August 2-4 in California. For more information, please contact Wanda Robinson via info@noonansyndrome.org or the NSSG website: www.noonansyndrome.org.

Andrew Leibs writes about accessible recreation for Suite 101.com and low-vision literacy on his website, Vis-AbilityStories.com.
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Title Annotation:GENETIC DNA DISORDERS
Author:Leibs, Andrew
Publication:The Exceptional Parent
Article Type:Interview
Geographic Code:1USA
Date:Aug 1, 2009
Words:1304
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