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March 11, 2014

BEAM: Oh, you make me smile — the battle against trisomy 18

— Amidst the feeding and oxygen tubes, young Karson Friedmeyer grins as her mother plays with her. Like so many working moms, Casey Friedmeyer enjoys this time to snuggle with her 7-month-old after a long day at the office.

Karson does too. Her attention is focused on her mommy’s face with a kind of quiet contemplation. In a simple stare, the connection between parent and child is unmistakable.

Every once in a while, an alarm goes off at Casey and her husband Joe Friedmeyer’s Clarksville home warning that Karson’s oxygen levels have dipped below 90. Used to the noise, Casey silences the sound by the push of a white button. The monitor that measures Karson’s oxygen saturation has been placed on her tiny foot. When she moves, the reading fluctuates, triggering the alarm. Still watching her mother, Karson remains unfazed by the disturbance.

Not so long ago, the medical community would define Karson’s genetic condition as being “incompatible with life.” A few in the profession still say as much. But with every milestone reached and birthday celebrated, Karson and other children with trisomy 18 continue to prove them wrong.

In an effort to educate the public, trisomy Awareness Month, observed in March, allows families affected by the disorder to tell these stories of courage, compassion and most of all love.

“A lot of doctors tell these moms that their babies are incompatible with life and that they need to terminate the pregnancy,” Casey said as Karson poked her finger around her oxygen tube. “Look at Karson now. I don’t think you know. You have to pray about it, and have hope and faith that everything will be OK.”

Hope is one of the greatest assets a family who receives a trisomy diagnosis can have. Confronting the statistics can be heart wrenching. According to trisomy18.org, a support and advocacy organization, the condition affects roughly 1 in 2,500 pregnancies and 1 in 6,000 live births in the United States each year. More than half of trisomy 18 babies carried to term will be stillborn, while less than 1 in 10 make it to the age of 1.

“It was pretty doom and gloom when they gave us the diagnosis because a lot of the textbooks say that only 10 percent of babies with trisomy 18 live to their first birthday. So the doctor told us he thought she would only live a week or two to a month at most,” Casey said. “Sometimes they have a hard time seeing the person and not the diagnosis.

“For me, I feel like I don’t care what the diagnosis is. You do whatever you can to help the person.”

Similar to Down syndrome, other types of trisomy have an extra copy of a chromosome, which can cause complications. For Karson’s condition, it’s chromosome 18. The extra genetic material brings with it a host of potential problems.

Children with the disorder typically have heart and other internal organ defects. When born, Karson’s esophagus wasn’t connected to her stomach. Surgery at 3 days old remedied the situation, but she still receives nutrition from a feeding tube and remains small for her age. Karson also has a hole in her heart that, through time, may repair itself. If not, another operation may be needed.

For children with the condition, every milestone becomes a reason to rejoice. At 4 months, Karson smiled for the first time. With the help of physical therapy, the 7-month-old can now unfurl her hands and suck on her tiny thumb. Only a few days ago, she reached eight pounds and graduated out of newborn clothing.

“We celebrate her birthday every month because we want to enjoy every day and every moment we get with her because we don’t know how long ...,” said Casey, her voice trailing. “We’ll have developmental delays, but we work to do what she can and see what she can do. There seems like there’s a lot more trisomy 18 kids making it past their first birthdays and doing really well.”

As medical bills grow from hospital stays, Casey focuses on the positives of the here and now. Karson continues to beat the odds and thrive.

In July, if they can find the funds, they hope to attend the Support Organization for trisomy’s annual conference in Virginia to meet other trisomy families. If you’d like to help, an account called Karson’s Medical Fund has been established and those wanting to contribute may stop in any area MainSource Bank to donate.

Education also remains a priority. Not accustomed to babies needing oxygen, onlookers sometimes stare at Karson. Casey suggests people who have questions just ask. Most of the time, their experience provides inspiration to others. In fact, Karson’s photo and story were recently shared on “The Ellen DeGeneres Show’s” Facebook page and received more than 67,000 likes and hundreds of shares from around the world.

“It’s really heartwarming for me to see that Karson has touched so many people she hasn’t met,” said Casey.

While maybe not living a typical life, little Karson and her smiles have become a happy norm for the Friedmeyer family.

“We do have what people would call a normal life, we think. She’s the best thing. She’s so sweet,” Casey said. “She may not be average. She may not be on the growth chart. She’s just a little different, but still normal. This is our normal.”

— Amanda Beam is a Floyd County resident and Jeffersonville native. Contact her by email at adbeam47@aol.com

 

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