Noonan Syndrome (NS)
Support Group Introductions
Gavlik, Heathyr (as of 11/99)
Hello my name is Heathyr Gavlik. I have three children, Jason-N.S.-age 9yrs., Joshua-N.S.-age 7yrs, and my daughter Jamey Lynn-no N.S.-age 5yrs. My husband also has a diagnosis of Noonans Syndrome. My husband and two boys were diagnosed in 1995. We live in MASS. We still question whether Jason and my husband have N.S. However, my son Joshua we are fully convinced.
When I was pregnant with my first son doctors told me at 6 months there was something wrong thru alpha feta protein. I had an amniocentisis and the results showed Jason may have dwafism and I had large amounts of anmiotic fluid. Three months later Jason was born weighing 7lbs. 1oz., 19 inches long. There were no other complications at birth other than C section due to mother not dialating during his birth. At 4 months I began to notice some of Jasons gross motor not progressing. He still could not hold his head up. This was my first child and according to all the baby books, he was not developing at a four month level. Docters just kept telling me he is chubby baby so his gross motor will take some time. I did some therapy exercises but nothing seemed to help. Finally, at ten months old one docter finally listened to me and recommended P.T. and to be seen by a neorologist. The neorologist at that time told me that Jason has low muscle tone and she said she did not think he would walk until 3 years old. She was right. Jason attended Early Intervention and then at age 3 went to a public intergrated school. He received P.T., Speech, O.T., and required his own one to one aide. He is now a happy nine year old. He still receives O.T. and requires some assistance in the classroom. He shows symptome of OCD or Tourettes. Jason is short for his age, has slightly droopy eyes, and had undesceded testicles. These are the only symptomes related to N.S. that Jason has. He was diagnosed at 4 years old and we are still questioning if this is accurate.
My pregnancy with Joshua was similar to Jasons. I also delivered him by C section for the same reason. Joshua was born weighing at 9lbs.,3oz., 23 inches. I am only 5 feet so it was a difficult pregnancy. Joshua looks nothing like his big brother Jason. Joshua has all of the physical characteristics of Noonans. He was not diagnosed until shortly after his second birthday. In fact, Jason and my husband were also diagnosed at the same time. For two years Joshua awoke crying every night for no apparent reason. He was a difficult baby to please due to all his Sensory Issues. One night back in February of 95 Joshua awoke crying as usual. This time is sounded a little different to me. I gave Joshua some Childrens Tylenol due to a high fever. Almost immediately after I gave him the Tylenol Joshua began having a Gran Mal seizure. Joshua was rushed to Childrens Hospital in Boston, Ma. For 2 hours docters could not control the seizure. He stopped breathing at one time during the seizure. We thought we were going to loose him! Finally the seizure was under control and Joshua was admitted to the ICU for over night observation. The following morning a team of doctors came to observe Joshua. One of the docters within the team was a genectics doctor. It took him 2 seconds to look at Joshua and he know he had Noonans Syndrom. That day our whold family had genectic counseling and it was determined that Jason and my husband also have NS. For 4 years we had been searching for a diagnosis so we were having mixed emotions. Joshua is now 7 years old. He receives speech, OT, and PT. He is in the first grade in a public school with his own aide. Joshua has been recently weened off Phenobarbital and has been seizure free for one year. He also wears glasses but may need surgery to help with ptosis. The first 4 years of Joshuas life he was always sick with cold or ear infections, but other than that he was pretty healthy. He had a full cardiac evaluation and everthing looked great. When he has his Doctors appointments they tell us he is doing well considering he has NS. We still have many issues to address but over all we are gratefull. I couldnt imagine him without NS.Everywhere we go people admire his curly blonde hair and cute personality.
As far as my husband who was also diagnosed with NS, he is also very healthy. He had trouble in school with learning difficulties and this is still quite a challenge for him. He is 5 feet, 9 inches. Pretty tall for NS! He has droopy eyes and also had surgery when younger to correct undescended testicles. As an adult you would not think he has NS. Looking back at some of his baby pictures there were some characteristics. We are not sure because he does not know about his biological fathers side. One thing I know for sure he said he always felt different which caused a very low self esteem. We hope we can show enough love and effection to our two boys so that they can have a better self esteem.
I hope this information can help someone else whose life is touched with NS. I am also looking forward to becoming part of this wonderfull support group. I still have so much to learn about this Hidden Disorder! Sorry this was so long but with so many people in my family with NS it was hard to keep it short. I will try to get some photos posted on the web.
Sincerely,
Heathyr Gavlik
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.