Noonan Syndrome (NS)
Support Group Introductions
Hello!
My name is Deanne. My husband (Jon) and I are both high school math teachers here in Billings, Montana. Our story begins about 4 months ago... During a routine OB checkup I learned that I had polyhydramnios (excess amniotic fluid) and was promptly admitted to the hospital for observation, ordered to quit my job immediately (I couldn’t even go back that evening or the next day to straighten up or get ready for a substitute teacher!) and ordered to complete bedrest. I was dialated 1cm (at 29 weeks along) and experiencing pre-term labor, on top of the polyhydramnios. After spending 11 weeks on bedrest our beautiful son, Todd James, arrived on April 9, 1999 weighing a hefty 9 lbs and measuring 22 inches long. All seemed fine the first night, but the second morning doctors came with the news that Todd had ‘certain physical indicators’ that pointed to ‘a chromosomal defect.’ (The bloodwork we received back a week later told us all was normal, which is true with kids with NS.) This was definitely the lowest point, because we had no clue what to expect, or really even what the doctor was talking about. Meanwhile, I noticed that TJ was blue around the mouth when I nursed him. A nurse told me that his oxygen saturation level was too low and he was admitted into the NICU, where he spent 9 days. After 9 days of running up there every 3 hours to feed him, we were able to take him home, but still on oxygen. (As of right now he is still on oxygen but improving.)
When he was about a month old we met with a geneticist and he confirmed what we already suspected, TJ indeed had Noonan Syndrome. At first this sounded so scarey, but thanks to finding this support group I have learned that it doesn’t have to be! Thankfully, TJ has no eating problems (already 12 lbs!) and really acts like any other healthy baby if you overlook the canula in his nose! He has also been diagnosed with HCM (hypertrophic cardiomyopathy - a thickening of the heart muscle) which is a common heart defect related to NS. However, this is causing him no problems either so far.
Mostly I have learned to take one day at a time and not worry about tomorrow. We were encouraged to find out, through this support group, how ‘normal’ a person with NS can grow up to be and have decided to assume the best for TJ and cross each bridge as it comes.
When I look at my smiling, cooing, adorable 2 month old son, I often forget about this title he’s been assigned, and just see an amazing boy, gift from God, that I know will bring our family nothing but Joy! I welcome correspondence from anyone who feels something in common with my story - Thank you for taking the time to read it!
Deanne
mom to TJ (2 months, NS) and Jana (2)
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The Noonan Syndrome Support Group, Inc. and any associated parties will not be held responsible for any actions readers take based on their interpretation of published or disseminated material. Please review medical treatment and decisions with your physician.
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