Noonan Syndrome (NS)
Support Group Introductions
Tiren, Craig and Cynthia (as at 1/97)
I work for a telecommunications company and Cynthia is a stay at home mom that homeschools our children. We live in Columbia, Maryland, USA which is halfway between Baltimore and Washington D.C.
Our eldest son Ryan, just turned 12. Casey, our eldest daughter, is 10. Our next daughter Erin is 8, Alexander is our 5 year old, Elisabeth is 3, And Andrew (NS) just turned 1 on 12/5/96
Andrew was born on 12/5/96. As this was our sixth child, we were pretty familiar with the type of labor Cynthia might have. Our Midwife (Maryland Licensed) was present. During contractions Andrew was having some irregular heartbeats and the Neonatal Intensive Care Unit (NICU) attending pediatrician on call was notified. Andrew came through the birth canal very quickly and had some facial bruising as a result, but in general seemed to be doing great. The next morning, our pediatrician felt that Andrews oxygen level was too low and admitted him to the NICU. Preliminary diagnosis was Beckwith - Widerman (sp.) syndrome but blood sugar levels and various organ sonograms did not prove this out. Andrews ears were low and rolled slightly back. He had the cutaneous features that are so prevalent in NS. A PDA heart murmur was detected.
After he was home Andrew developed Jaundice and was on a home lighting system for 10 days ( and blood tests everyday, what fun...) Throughout most of this time he had yet to open his eyes. At five months we had our first visit to the geneticist. The NS diagnosis was made. Andrew has had trouble gaining weight. As of today he is doing better but at 13 Months he was less than 20 lbs. He was diagnosed with severe Ptosis (drooping eyelids), had corrective surgery, and since has stopped having to lean back to see everything. He has been diagnosed with laryngomalacia, a condition that causes him to be a loud breather especially while asleep. After observing what seemed to us to be intermittent sleep apnea, our ENT recommended an exploratory laryngoscopy to make sure that there were no other problems. Andrew came through the procedure and no other problems were found, although Andrew took over three days to come through the anesthesia. He was lethargic and slept the majority of the day.
Andrew has a continual runny nose and is susceptible to colds, which tend to stick around longer because he wipes his nose and then rub his eyes. A developmental assessment revealed that on average he is about 2 - 3 months behind average. Currently he is beginning to eat more and has been enrolled in a service program for physical therapy. At the last visit to the geneticist he told us to get info on Cardio-Facial-Cutaneous (CFC) syndrome. There seems to be a lot of discussion as to whether this is a subset of NS or a separate entity.
Craig and Cynthia Tiren
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