Noonan Syndrome (NS)
Support Group Introductions
Jones, Tricia and Kirt (as of 2/99)
Hello, I am Trisha Jones and my husband's name is Kirt. We have two beautiful daughters. Amber and Allison. We live in North Carolina. My husband is an Electrician and we have our own Electrical Contracting business.
Amber is 10 years old and she has Noonan's Syndrome. I had an uneventful pregnancy although looking back I think that I too had polyhydramnios. I only gained 28 pounds but looked like I had gained 50. People used to ask if I was having twins. I carried her to full term and she weighed in at 7 lbs., 4 oz. and was 19 inches long.
She was about 8 hours old when the nurses became concerned about her. She was having trouble with sucking, breathing and swallowing and she sounded congested. They called the doctor in and sent Amber down for x-rays. The x-rays showed that she had a hole in her heart and she was immediately put into NICU. Things moved so fast that I could not keep up with what all was being said or done. Amber was born via C-Section and I was heavily medicated the first two days. Her physical appearance started to change too. Her head was huge compared to the rest of her body, she had ptosis of the left eye, low set rotated ears, pectus carinatum, wide spaced eyes, and flat nasal bridge. The doctors knew that there was something else present but could not figure it out. All kinds of specialists were brought in and lots of tests performed. Her chromosomes test came back normal and it ruled out Down's and Turner's syndromes. She was fed through the NG-Tube for the first eight days. She was three days old before I could even hold her. I was a nervous wreck when the nurse placed her in my arms... all those IV's and monitor wires. She spent a total of 10 days in the hospital. Finally, the day to take her home arrived. We had no answers other than the fact our baby has a heart condition and to keep it monitored.
For the first two years of Amber's life, she was poked, prodded and scrutinized. A syndrome was present, we just did not know which one. The geneticist concluded that she had a form of dwarfism and labelled her as having Hypochondroplasia. The cardiologists did not agree. Shortly after Amber's second birthday the Cardiology team came to the conclusion that Amber had Noonan's Syndrome, because of the type of heart defect she had along with the physical features and short statue. I had no idea what in the world they were talking about as I'd never heard of this before. They were so thrilled and happy to have found the answer and I am standing there dumbfounded. The cardiologists runs and makes copy of the info he had on Noonan's Syndrome... the info. was barely two paragraphs long. I had no comprehension of what I was reading. I tried to find out more about this syndrome but could only find what I already had. I was totally in the dark and put it behind me. I focused only on the fact that Amber had a Heart defect and concentrated on that. One day, I approached the Cardiologist for some answers about this syndrome... he told me to find a support group called "Little People". Amber will be short and in order to help me deal with it, find that support group. He left. I was fuming... he gave me no direction. I was on my own if I wanted to find any info. So, once again, I focus only on the fact that she has a heart defect. The rest is unimportant... that is what I was lead to believe and feel.
In September of 1991 Amber had her heart surgery. It was a success. Within three days she was out of the hospital crib and wandering around. She bounced back with such resilience. But, another problem was present concerning her heart. She has I.H.S.S. (Idiopathic Hypertrophic Subaortic Stenosis), and was put on verapimil and has been on it ever since.
Amber had developmental delays too. She was about 5 months old before she could sit up. The doctors said this had to do with the fact that she has a Large Head. She did not walk until she was two years old. The only way she could get from point A to point B (other than my arms or the walker) was to do the log roll. She never crawled or scooted...just rolled.
Presently, Amber is in the fourth grade. She does have some learning difficulties, and has trouble staying focused. One day she knows what she is being taught and the next day has no idea. But if you ask her verbally, she knows her stuff. She receives OT and PT.
Two years ago, I was ready to find out some more answers to this "remarkable" syndrome. I contacted the Human Growth Foundation and asked for any and all information on Noonan Syndrome. They directed me to a woman in Baltimore, Md... they said Wanda Robinson has started a support group and she would be able to help me out. I am thinking... a support group... there are more out there... we are not alone... this isn't some strange syndrome that only we have to deal with... I was totally amazed. I called Wanda right away. I was so excited to talk with someone else. I didn't feel so alone anymore.
Now, two years later, I have been more educated from these wonderful people by being a part of this support group than I ever could have learned from the doctors. Thank you so much Wanda Robinson and thank you to all the people I have come to know and continue to meet... for sharing your experiences. God Bless each and every one of you.
Trisha Jones
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.