Noonan Syndrome (NS)
Support Group Introductions
Courtney (as at 1/99)
My name is Karen. My husband Sam and I have three beautiful daughters, Courtney (5), Kathleen (3), and Janie (almost 2). I am a registered nurse but am currently a stay-at-home mom, not working as an RN. My husband is a manager of a large wholesale warehouse. We live in Nevada. Our oldest daughter, Courtney, was diagnosed with possible NS at age 1. A more definitive diagnosis came a few years later
My pregnancy was a very complicated one.At about 5 months gestation Courtney was found to have hydronephrosis of the right kidney and I had polyhydramnios. The polyhydramnios became so severe that it put me into preterm labor at about 26 weeks. After 6 weeks of bedrest and various drugs to stop the labor, an ultrasound revealed fluid in Courtney's chest cavity, compressing her lungs. Delivery was induced the next day and she was born with severe hydrops (fluid build-up throughout her body/ edema). She was swollen from head to feet and the fluid in her chest was so severe that she wasn't breathing at all. Chest tubes were immediately inserted to relieve the pressure and she was put on a ventilator. She was given surfactant to help her lungs expand. She wasn't expected to make it through the night. We prayed like we had never prayed before, and our prayers were answered. She did make it through the night, but it was still an uphill battle. At 6 weeks of age she took a turn for the worse. Perinatologists feared she had contracted an infection but it turned out to be a malrotation of the intestines which was surgically corrected. At this time her appendix were also removed and a cyst was removed from one of her ovaries. The hydronephrosis (enlarged kidney) eventually cleared up on its own. A ph study revealed that she had the type of reflux associated with SIDS (sudden infant death) so at 8 weeks (on her due date) she was finally sent home on an apnea monitor which she stayed on until she was one year old. She never did have any apnea. When she was sent home from the hospital we were told that she had a heart murmur which had been checked by a cardiologist and was "innocent". We were told to inform her pediatrician so he wouldn't be concerned. Her pediatrician, at her first check-up was certain this was no innocent murmur and sent us back to the same cardiologist. She was then diagnosed with moderate to severe pulmonic stenosis. This cardiologist said he would attempt to correct it by balloon valvuloplasty when she was about 2 years old. My parents convinced me to get a second opinion but then I discovered that this was the only pediatric cardiology group in my city, so I decided against the second opinion. My father later met a man whose father was a ped. card. in Chicago and offered to have me call his father. I did and his father was wonderful. I read reports over the phone to him and he told me he would do the procedure as soon as possible because once the baby gets bigger they have to use a larger balloon which is not as safe or as successful. He told me to seek other opinions and if a doctor can't explain why he was doing something, to find another doctor. He also said it is important to find a doctor who has done the procedure alot. So I got another opinion by phone with a doctor in Phoenix who said the exact same thing about balloon size. Both of these doctors had done the procedure over 100 times. I then called back my original card. and asked him why he was waiting until she was 2. His response was "that's just what we do". I asked him how many times he had done the procedure. He said "we've done it several times successfully", notice "we" not "I". I immediately made my decision and flew to Phoenix where balloon valvuloplasty was performed successfully at 11 mos. old. She was found to have a dysplastic valve and a mild ASD. The ASD gradually got smaller and is now insignificant. The dysplastic valve was what made the card. think of Noonan Syndrome and this was the first time we heard the term. However, we were unable to find much information about it at all, so we focused on immediate concerns instead. I tell this story about the doctors and second opinions because I learned that we must be vigilant and be advocates for our childrens healthcare. The original cardiologists partner later became angry with me for taking her to another doctor and informed the the information about balloon size was "not something you need to know" and told me the valvuloplasty was not something a doctor needs to practice because it's simple. The arrogance!!
Courtney was on time with her language and fine motor skills, but was quite behind with
her gross motor skills. She didn't walk until about 19 months. She has always
been a picky eater but remained on the growth curve at about the 5th percentile
consistently for both height and weight. At her most recent check-up she advanced to
about the 20th percentile, so of course I was thrilled. She was a completely bald
baby and has extremely slow growing hair. At age 5 1/2 she still doesn't have enough
hair to look like a normal short haircut. I think people on the street wonder if she
has lost her hair
to chemo and it is growing back. She is starting normal kindergarten in the fall at
a private Christian school. I worry about teasing and have been seeking help for the
hair growth problem, but the doctors are in a quandry. Nobody knows the cause.
We are extremely thankful for Courtney's outcome. She is smart and sweet and funny. She is extemely shy around people she doesn't know well and is socially immature, but this is gradually improving. Her health has been excellent since the correction of her heart condition. After finally finding TNSSG and the listserv, I finally have the answers and support I've been looking for. I continue to pray for those who continue to go through much more serious medical problems with their children. Thank you to all of you for your friendship and support!
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