Exceptional Parent - August 2009 - (Page 35) 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 Suite101.com and lowvision literacy on his website, Vis-AbilityStories.com. www.eparent.com/EP MAGAZINE • August 2009 35 http://www.noonansyndrome.org http://www.Suite101.com http://www.Vis-AbilityStories.com http://www.eparent.com Table of Contents for the Digital Edition of Exceptional Parent - August 2009 Exceptional Parent - August 2009 Contents Ancora Imparo What's Happening Further Reading New Products 2009 Disability Awareness Night Schedule 2009 Models of Excellence in the Healthcare Profession Preterm Birth: How It Affected My Family Treatment of Neurosensory Disorders Improves Psychological Well-Being in Children Federal Program Encourages Health Service Innovations on Developmental Disabilities Close Encounters of the Medical Kind Sitting on top of the World: One Physician's Journey to Success Raising a Noonan Syndrome Child When We Found Out Our Daughter Had CMT August is Spinal Muscular Atrophy Awareness Month! Newborn Screening Saves Babies, One Foot at a Time Another Day in the Life of the National Children's Study Evidence Based Humanity Must Be Part of the Equation Incontinence Education Series Part 7 Emergency Preparedness Series Part 4 On the Road to Recovery - Self-Deiscovery: The Crown Jewel of Psychotherapy Asperger Syndrome and the Difficulties of Diagnosing and Treating Related Conditions EP Bookstore Special Needs Alliance Specialcare AADMD - American Academy of Developmental Medicine and Dentistry Organizational Spotlight Living with a Disability Exceptional Parent - August 2009 Exceptional Parent - August 2009 - Exceptional Parent - August 2009 (Page Cover1) Exceptional Parent - August 2009 - Exceptional Parent - August 2009 (Page Cover2) Exceptional Parent - August 2009 - Exceptional Parent - August 2009 (Page 1) Exceptional Parent - August 2009 - Contents (Page 2) Exceptional Parent - August 2009 - Contents (Page 3) Exceptional Parent - August 2009 - Contents (Page 4) Exceptional Parent - August 2009 - Contents (Page 5) Exceptional Parent - August 2009 - Ancora Imparo (Page 6) Exceptional Parent - August 2009 - Ancora Imparo (Page 7) Exceptional Parent - August 2009 - Ancora Imparo (Page 8) Exceptional Parent - August 2009 - Ancora Imparo (Page 9) Exceptional Parent - August 2009 - What's Happening (Page 10) Exceptional Parent - August 2009 - What's Happening (Page 11) Exceptional Parent - August 2009 - Further Reading (Page 12) Exceptional Parent - August 2009 - Further Reading (Page 13) Exceptional Parent - August 2009 - New Products (Page 14) Exceptional Parent - August 2009 - New Products (Page 15) Exceptional Parent - August 2009 - New Products (Page 16) Exceptional Parent - August 2009 - 2009 Disability Awareness Night Schedule (Page 17) Exceptional Parent - August 2009 - 2009 Models of Excellence in the Healthcare Profession (Page 18) Exceptional Parent - August 2009 - 2009 Models of Excellence in the Healthcare Profession (Page 19) Exceptional Parent - August 2009 - Preterm Birth: How It Affected My Family (Page 20) Exceptional Parent - August 2009 - Preterm Birth: How It Affected My Family (Page 21) Exceptional Parent - August 2009 - Treatment of Neurosensory Disorders Improves Psychological Well-Being in Children (Page 22) Exceptional Parent - August 2009 - Treatment of Neurosensory Disorders Improves Psychological Well-Being in Children (Page 23) Exceptional Parent - August 2009 - Treatment of Neurosensory Disorders Improves Psychological Well-Being in Children (Page 24) Exceptional Parent - August 2009 - Treatment of Neurosensory Disorders Improves Psychological Well-Being in Children (Page 25) Exceptional Parent - August 2009 - Federal Program Encourages Health Service Innovations on Developmental Disabilities (Page 26) Exceptional Parent - August 2009 - Federal Program Encourages Health Service Innovations on Developmental Disabilities (Page 27) Exceptional Parent - August 2009 - Close Encounters of the Medical Kind (Page 28) Exceptional Parent - August 2009 - Close Encounters of the Medical Kind (Page 29) Exceptional Parent - August 2009 - Close Encounters of the Medical Kind (Page 30) Exceptional Parent - August 2009 - Close Encounters of the Medical Kind (Page 31) Exceptional Parent - August 2009 - Sitting on top of the World: One Physician's Journey to Success (Page 32) Exceptional Parent - August 2009 - Sitting on top of the World: One Physician's Journey to Success (Page 33) Exceptional Parent - August 2009 - Raising a Noonan Syndrome Child (Page 34) Exceptional Parent - August 2009 - Raising a Noonan Syndrome Child (Page 35) Exceptional Parent - August 2009 - When We Found Out Our Daughter Had CMT (Page 36) Exceptional Parent - August 2009 - When We Found Out Our Daughter Had CMT (Page 37) Exceptional Parent - August 2009 - August is Spinal Muscular Atrophy Awareness Month! (Page 38) Exceptional Parent - August 2009 - Newborn Screening Saves Babies, One Foot at a Time (Page 39) Exceptional Parent - August 2009 - Another Day in the Life of the National Children's Study (Page 40) Exceptional Parent - August 2009 - Another Day in the Life of the National Children's Study (Page 41) Exceptional Parent - August 2009 - Another Day in the Life of the National Children's Study (Page 42) Exceptional Parent - August 2009 - Another Day in the Life of the National Children's Study (Page 43) Exceptional Parent - August 2009 - Evidence Based Humanity Must Be Part of the Equation (Page 44) Exceptional Parent - August 2009 - Evidence Based Humanity Must Be Part of the Equation (Page 45) Exceptional Parent - August 2009 - Incontinence Education Series Part 7 (Page 46) Exceptional Parent - August 2009 - Incontinence Education Series Part 7 (Page 47) Exceptional Parent - August 2009 - Incontinence Education Series Part 7 (Page 48) Exceptional Parent - August 2009 - Emergency Preparedness Series Part 4 (Page 49) Exceptional Parent - August 2009 - Emergency Preparedness Series Part 4 (Page 50) Exceptional Parent - August 2009 - Emergency Preparedness Series Part 4 (Page 51) Exceptional Parent - August 2009 - On the Road to Recovery - Self-Deiscovery: The Crown Jewel of Psychotherapy (Page 52) Exceptional Parent - August 2009 - On the Road to Recovery - Self-Deiscovery: The Crown Jewel of Psychotherapy (Page 53) Exceptional Parent - August 2009 - On the Road to Recovery - Self-Deiscovery: The Crown Jewel of Psychotherapy (Page 54) Exceptional Parent - August 2009 - On the Road to Recovery - Self-Deiscovery: The Crown Jewel of Psychotherapy (Page 55) Exceptional Parent - August 2009 - Asperger Syndrome and the Difficulties of Diagnosing and Treating Related Conditions (Page 56) Exceptional Parent - August 2009 - Asperger Syndrome and the Difficulties of Diagnosing and Treating Related Conditions (Page 57) Exceptional Parent - August 2009 - Asperger Syndrome and the Difficulties of Diagnosing and Treating Related Conditions (Page 58) Exceptional Parent - August 2009 - Asperger Syndrome and the Difficulties of Diagnosing and Treating Related Conditions (Page 59) Exceptional Parent - August 2009 - EP Bookstore (Page 60) Exceptional Parent - August 2009 - EP Bookstore (Page 61) Exceptional Parent - August 2009 - Special Needs Alliance (Page 62) Exceptional Parent - August 2009 - Special Needs Alliance (Page 63) Exceptional Parent - August 2009 - Specialcare (Page 64) Exceptional Parent - August 2009 - Specialcare (Page 65) Exceptional Parent - August 2009 - Specialcare (Page 66) Exceptional Parent - August 2009 - Specialcare (Page 67) Exceptional Parent - August 2009 - AADMD - American Academy of Developmental Medicine and Dentistry (Page 68) Exceptional Parent - August 2009 - AADMD - American Academy of Developmental Medicine and Dentistry (Page 69) Exceptional Parent - August 2009 - AADMD - American Academy of Developmental Medicine and Dentistry (Page 70) Exceptional Parent - August 2009 - Organizational Spotlight (Page 71) Exceptional Parent - August 2009 - Organizational Spotlight (Page 72) Exceptional Parent - August 2009 - Organizational Spotlight (Page 73) Exceptional Parent - August 2009 - Living with a Disability (Page 74) Exceptional Parent - August 2009 - Living with a Disability (Page Cover3) Exceptional Parent - August 2009 - Living with a Disability (Page Cover4) http://www.eparentdigital.com/nxtbooks/exceptionalparent/201009 http://www.eparentdigital.com/nxtbooks/exceptionalparent/201008 http://www.eparentdigital.com/nxtbooks/exceptionalparent/201007 http://www.eparentdigital.com/nxtbooks/exceptionalparent/201006 http://www.eparentdigital.com/nxtbooks/exceptionalparent/201005 http://www.eparentdigital.com/nxtbooks/exceptionalparent/201004 http://www.eparentdigital.com/nxtbooks/exceptionalparent/201003 http://www.eparentdigital.com/nxtbooks/exceptionalparent/201002 http://www.eparentdigital.com/nxtbooks/exceptionalparent/2010rg http://www.eparentdigital.com/nxtbooks/exceptionalparent/200912 http://www.eparentdigital.com/nxtbooks/exceptionalparent/200911 http://www.eparentdigital.com/nxtbooks/exceptionalparent/200910 http://www.eparentdigital.com/nxtbooks/exceptionalparent/200909 http://www.eparentdigital.com/nxtbooks/exceptionalparent/200908 http://www.eparentdigital.com/nxtbooks/exceptionalparent/200907 http://www.eparentdigital.com/nxtbooks/exceptionalparent/200906 http://www.nxtbookMEDIA.com
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