Marion family adjusts to Noonan's Syndrome
Troy and Eileen Schmidt’s living room seems normal for a family with small children. Toys were the primary decorations on the carpeted floor, including die-cast semitrailers and fluffy stuffed animals.
The family kitchen table reveals a different story. Standing erect on the table is a 10-inch mirror. The mirror is a tool for their 2-year-old daughter Ruby.
One exercise instituted by a food therapist from Moundridge is for Ruby to watch her reflection with food. The Therapist’s goal over the past month has been to get Ruby comfortable with food. Another exercise is to have Ruby paint with food.
“Get her used to the texture,” Eileen said. “Get her to start putting more things in her mouth.”
The Schmidts never had to worry about Noah wanting to eat, even though they said their 6-year-old son prefers to graze on food. For most of her life, Ruby has eaten through a tube, with specialized liquid food pumped directly into her stomach. She eats this way about five times a day. Each time, she suffers coughing and gagging spells. Troy and Eileen said it will be at least a year before she can start eating by mouth.
She has gotten used to the coughing. When eating on Saturday, she started to cry as she coughed. The tears were not from discomfort but were induced when Noah stole her sippy cup.
Ruby has always associated eating with discomfort. Even as a newborn, she would fall asleep halfway through a feeding. Later, severe acid reflux made it impossible for her to keep food down. Acid reflux is one of the effects of Noonan’s syndrome, an autosomal dominant congenital disorder.
The entire Schmidt family has had to get used to the effects of the disorder.
Ruby has spent more time in hospitals and doctor’s offices than some people experience in 50 years. She has had three surgeries: in June 2011 she had the valve between her stomach and esophagus widened and a mic-key button installed, in September 2011 she was formally diagnosed with Noonan’s syndrome and had a heart catheter surgery to balloon open an artery, and in May 2012 she had tubes put in her ears to drain fluid and prevent infections.
She is on four different medicines that are liquefied and pumped through the mic-key button: a beta-blocker, an acid reflux medicine, nose drops, and an allergy medicine.
Before the mic-key button was installed, Troy and Eileen would have to thread a neogastric tube through Ruby’s nose multiple times a day.
Heart problems are the most serious effects of Noonan’s Syndrome. It was not diagnosed until Ruby registered a heart rate of 180 beats per minute just sitting down in July 2011. Normally, Ruby’s heart has to beat faster to push blood through narrow valves. She also has a hole near one valve. A second heart catheter surgery is planned when Ruby reaches 40 pounds to repair the hole. She may never be able to participate in intense activity, like swimming or sports.
The syndrome also affects sinuses. Ruby has a high palette — the roof of her mouth extends to her sinus cavity. This has resulted in ear difficulties — she had about four infections in a short period in 2012 — and caused her nose to run constantly.
Ruby weighs a little more than 23 pounds. Eileen said some infants weigh as much at 6 months. Ruby’s endocrinologist suggested hormones for weight gain. Her pediatric cardiologist quickly nixed that idea because Ruby’s heart could grow too quickly.
The first of these events, starting with Ruby at 6 months in April 2011, were a shock to Troy and Eileen. Before Ruby was born, people asked the couple if their baby was a boy or a girl. They would respond that they did not care as long as their child was healthy.
“That’s what everybody hopes and prays for,” Troy said.
Once the health of their child was in question, it became the focus of their lives. Both have had to take multiple of unpaid days off work for hospital visits to Children’s Mercy in Kansas City. Any extra money the couple earns — not paying for food and bills — go to expenses related to Ruby.
“Without insurance we would be broke,” Troy said.
Doctor’s visits, medical supplies like replacement mic-key buttons, plastic tubes, and syringes, and the high-calorie liquid food are covered by Troy’s insurance from Marion County. Gas and hotels are not. The majority of Eileen’s paycheck from Prairieland Partners goes to day-care, a necessity with both parents having to work.
The fundraiser by Strassburg Baptist Church about a year ago was a big help to the family. Troy said they still have some of the money left, all though the sum is dwindling.
The family trips to Kansas City have had an impact on Noah too. Usually, Noah is left with either set of grandparents in Marion. On a few occasions, he has cried and expressed concerns for his sister.
But, those trips to Kansas City are reducing with the Schmidts scheduling as many appointments as they can at one time.
The Schmidt’s try to live as normally as they can. They still live to go out to eat as a family. It was unnerving at first when the wait staff would approach the family during one of Ruby’s coughing spells.
Ruby has been accepted at day care. Initially, the other children wondered why she did not eat with them.
Recently, she acted as an emissary for the day care child establishment. When a new child was introduced to the group, Ruby brought him toys as a sign to join the group.
“As far as we’re concerned, both of our kids are as healthy as they’re going to be,” Troy said.