Noonan Syndrome (NS)
Support Group Introductions
Kathy Palmer (as of 9/98)
Shauna Marie Palmer was born at 10:00 AM on Tuesday, February 13, 1996 in Grass Valley, CA. I was two weeks overdue and was induced on the 12th. I thought she would be born on the 12th - would never have chosen for her to be born on the 13th! Perhaps she was jinxed from the start. According to my Ob/Gyn, we were expecting a normal, 8 pound baby girl. She showed some distress during labor so was delivered quickly by cesarean section. To everyone’s surprise, she weighed in at 4 pounds, 10 ounces and was in total respiratory failure. At one point her heart stopped and the doctor performed CPR. (My Ob/Gyn later told me that her small size was due to an inter-uterine growth retardation situation. My placenta and umbilical cord were smaller than normal. This is not a feature of Noonan Syndrome.) Shauna was intubated (placed on a respirator) and was rushed past me to the ICU. I was able to briefly touch my finger to her cheek. She appeared more a tiny wrinkled fragile old woman at the end of life, than a newborn baby at the start of life.
By early afternoon, Shauna was transferred by ambulance to a level one hospital in Sacramento, an hour away. (My husband, Wes, followed later that night, and I, two days after. Our 4 ½ year old, Kayla, stayed behind in Grass Valley with my parents.) By the following morning, the doctors had given Shauna a 5% chance of survival. The respirator pressures had caused a pneumothorax (large hole) in each lung and multiple pinhole punctures. The hospital placed her on ECMO (Extracorporial Membrane Oxygenation), an iron lung. It allowed her lungs to rest and mature. She required two nurses around the clock; one to monitor her and one to monitor the equipment. Wes and I held vigil by her side except for the two hours every six hours when the nurses changed shifts (and my many trips to the crying room). We would stroke her fingers and gaze into her eyes. I kept a chart of her many medications and the vital statistics that told us of her slow but steady progress. After eight days and much medicinal therapy, she was weaned off ECMO to the respirator.
Over the next two weeks, we watched her condition improve but she failed multiple attempts to wean off the respirator. When finally successful, I was allowed to hold her. She was three weeks old. Although she no longer needed the respirator, she required extra oxygen which was delivered through a nasal canula. Her cardiologist told us that she had some pulmonary hypertension and would need the oxygen for a few more months. She was transferred out of the hot room to level two intensive care.
Shauna was fed through a nasal (N-G) tube to supplement our efforts at oral feeding. She was never able to take more than one third of her requirement by mouth. At six weeks old, she was moved to the critical care room. Although the hospital was hesitant to release her until she no longer needed the feeding tube, we were adamant that we could provide the necessary care at home. At seven weeks, with the discharge paper work in process, Shauna developed a severe infection. It started at the site of her broviac catheter (a tube inserted in a large neck vein that remains in place to be used for the drawing of blood and administration of medications). Her progress of the prior four weeks took a giant step backwards. She was returned to the ICU and put back on IV feedings and medications. Ironically, the hospital never needed to use the broviac, until she developed the infection, but then it had to be removed because it was the source of the infection!
Now it was imperative that Shauna remain hospitalized for the duration of antibiotics to fight the infection. She also needed a unit of blood. Once out of danger, we had her transferred to the pediatric ward. Although there was a higher risk of contamination outside the NICU, we felt it necessary to be in a less structured environment. (No more scrubbing and donning of white hospital gowns before entering the NICU - yea!!! But seriously - ). On the pediatric ward we could be with her around the clock and participate in her care. We learned to prepare her feedings, change her N-G tube, perform chest percussion therapy, and read the monitors. With the move to the ward, Shauna was assigned a new physician. He was much more agreeable to a speedy discharge.
It was at this time that we were able to meet with the geneticist. I will never forget the day when she first spoke the words Noonan Syndrome. Wes, my mother-in-law, and I were in Shauna’s room. I remember also the words spontaneous mutation as she examined our features for signs of the syndrome. We took the materials she offered, but I have to admit, at the time, I wasn’t ready to find out what was in store for Shauna due to the diagnosis. Horrid thoughts clouded my head. I never should have tried to have a baby after 40. The two miscarriages must have been a warning. Why didn’t the geneticist who participated in the amniocentesis and who detected the cystic hygroma (loose skin at the back of the neck, often an indication of Downs Syndrome) in-utero, know to alert us of the syndrome?
Syndrome aside, we proceeded with the discharge. Shauna came home on April 17, the day before my 42nd birthday. It was the only birthday present I’d hoped for. We had not slept in our own beds for nine weeks. While Shauna was at Sutter Memorial, we lived at the Sharing Place (similar to a Ronald McDonald House) for the first three weeks and in my parent’s RV in the hospital parking lot for the next six weeks. We made a couple of trips back to Nevada City each week to shuttle Kayla to day care, get the mail, and check on the house. With each trip we’d return to Sacramento laden with homemade meals from our friends and family. I was so very thankful for their contributions.
Once home with Shauna, we arranged a mini-hospital setting in the living room by the window so if friends and family came by, they could view her from outside, to minimize the risk of infection. Her bed was an English pram that had been in my mother’s family. She was attached to an Apnea monitor, pulsoximeter (to measure her oxygen processing), the oxygen tubing, and the N-G feeding tube. To hold her was like wrestling with an octopus!
We administered nebulizer breathing treatments and percussion therapy every three hours. At night we would detach the pram bed from the frame and place it on the floor where one of us would sleep by her side. We had a visiting nurse come once a week for about the first two months. She would report the vital statistics back to Shauna’s pediatrician. And folks, there are still doctors out there who are willing to do home visits! In fact, ours happens to live just a few miles down the road.
Shauna’s progress has been slow. At 12 weeks she started having seizures and we added a neurologist to the list of specialists. He put her on Tegretol and she has been seizure-free ever since. About the same time, she became colicky. That lasted until she was eight months old. Every evening at about 5:00 PM, in order to calm her, we would pace with her - outside. Inside didn’t cut it! (She was also a very vertical baby. She wouldn’t let me use my new glider/rocker!) It was the summer of 1996, the average temperature was 90 degrees and it was the worst mosquito year I can remember! But hey, what’s a few mosquito bites if you can get the screaming to stop. When the pacing didn’t work, Wes would lie her on her stomach and literally pound on her back with his hands. To manage my stress in the situation, I got to where I had my glass of chardonnay ready when the 5 o’clock hour rolled around. No sense in having the both of us screaming!
Shauna also had severe hypotonia (low muscle tone). We had to support her like a newborn until she was a year old. I had fears that she would never walk. She never did crawl, really, but did start pulling to standing and cruising the furniture at about 15 months. Her first free steps were at 18 months. Her motor and cognitive skills have greatly improved ever since. She now tries so hard to be a typical two year old. She’s climbing on anything and everything. A few weeks ago, Wes bought Kayla (now seven years old) a new bike and it was leaning against the couch. I turned away for a few seconds (it only takes a few, right moms?) and when I looked back, she was sitting on the bicycle seat!
So now, baring the unknown, we are faced with four major challenges. The first is the feeding situation. She doesn’t have oral aversions and there is no swallowing obstruction or aspiration, but we’ve been told not to force the oral issue until she’s off the oxygen. Wes says I just need to be patient. He’s sure she’ll turn around in the next couple of years. Meanwhile, I’ve joined the G-tube list on the Internet and I’m learning all I can about the weaning process. (As the N-G tube is supposed to be a temporary feeding solution, and as its presence contributed to multiple ear infections, we had the G-tube inserted during her hospital stay at one year old - read on!)
The second challenge is her need for extra oxygen. When we brought Shauna home, the pulmonologist said she’d need the oxygen for a few months. Next thing we know, he says she’ll be four before she can be weaned! (Although the pulmonary hypertension subsided on its own, her need for the extra oxygen is due to excess lung tissue scaring). It’s the ole’ two steps forward, one step back story. Each year she has a great summer, illness-free, then along comes winter and she gets every virus that passes within a mile. At one year old, she caught RSV resulting in double pneumonia, a trip to the emergency room, a transfer to Sutter Memorial, and a ten day hospitalization. (She had to be sedated and intubated, so her gastroentenologist thought it was a good time to place the G-tube).
Shauna was discharged in good condition, but while she had been in the hospital, she caught an intestinal virus that didn’t surface until we had been home for a few days. Called Roto virus, it caused severe dehydration and another trip to the emergency room. Her veins were so constricted that the doctor couldn’t insert an IV and she had to be re-hydrated through the bone marrow. I’ll never forget the popping sound when the huge needle punctured her shin bone! She was so far out of it that she didn’t even flinch. Another transfer to Sutter Memorial and four more days in the hospital. A strange thing occurred during her dehydration stage; she sucked down all the fluids we could give her - by mouth! Could something so good come out of something so nasty? Well, it was temporary. By the end of her hospital stay, she was back to full tube feedings. Wouldn’t that make an interesting case study?
Issue three is her scoliosis. Shauna wears a trunk brace except when she’s sleeping. She has an uncorrected 70 degree lower curve, 54 degrees corrected. The doctor says there’s surgery in her future but not until she’s about twelve. I’ve read a little on the procedure and it tears at my heart to know what she will have to go through. Meanwhile, Shauna’s been very fortunate to have been accepted at Shriner’s Hospital in Sacramento. The services for her back will be at no cost through age 20! When one is concerned about hitting the insurance company’s lifetime payment benefit, this is a God sent. Now, when the Shriners march in our local parades, I can’t keep the tears from forming in my eyes.
My wish is that we could just get one of these three issues behind us. They seem to work against each other. Her difficulty in breathing makes it hard for her to eat so she needs to be fed through the G-tube. The brace makes it even harder for her to breathe and presses on her stomach, aggravating her reflux condition. If we can’t keep food in her, she won’t grow. Until she can grow more, her lungs won’t generate new oxygen producing tissue and she’ll continue to require extra oxygen. And the door keeps revolving with no apparent exit.
The last challenge is the seizure situation. When we see the neurologist this month, he’s going to wean her off the medication. Please, oh please, let the seizures be gone. One less concern would be welcome.
Well, to summarize, a list of Shauna’s Noonan Syndrome features follows:
| scoliosis | pectus | delayed bone age |
| broad forehead | small chin | hypotonia |
| flat feet | cervical hygroma | seizures |
| G-tube fed | gross motor delays | poor coordination |
| wide set eyes | low set tilted ears | failure to thrive |
| chronic lung disease & oxygen dependent |
hypertrophic cardiomyopathy |
ASD/VSD (closed naturally) |
| reflux |
To Shauna, she’s no different from any other two year old. But she has sweet ways of reminding us of her uniqueness. If the oxygen tubing gets hung up on the furniture, she chirps ‘tube - tube’. After a bout of reflux, she tells us when she’s ‘all done’. She’s tolerant of the brace even though it restricts her activity. She’s our million dollar miracle child angel baby and I hope that each of you gets a chance to meet her one day.
Shauna’s loving mama,
Kathy
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