22q: Chicago family spreads the word about genetic disorder

Chicago elementary school teacher Lindsey Garcia was halfway through her second pregnancy when she and husband Ryan were told that the baby, a boy they decided to name Cohen, would be born with a rare congenital heart defect called Tetralogy of Fallot.

Postcards from Cohen

Lindsey blogged about Cohen’s time in the hospital at postcardsfromcohen.blogspot.com. Follow along to look back at his struggles, look forward to his future triumphs and learn more about 22q.

Dempster Family Foundation

Former Chicago Cubs pitcher Ryan Dempster and his family were inspired by his daughter, Riley, who was diagnosed with 22q shortly after birth, to use their influence to raise awareness for 22q. Visit DempsterFoundation.org for information and resources about 22q, and ways you can get involved in their awareness campaign.

The condition would require open heart surgery at birth or soon after.

While still trying to wrap their head around the shock of this diagnosis, the Garcias were hit with even more bad news.

Three rounds of genetic testing revealed Cohen tested positive for 22q11.2 deletion syndrome.

“I had pretty much eliminated the thought of him having a genetic disorder out of my mind,” Lindsey says. “I mean, what were the chances of having both? When the geneticist told me, I almost swerved into another lane of traffic.”

22q is caused by a missing piece of the 22nd chromosome. It’s a tricky disorder because it’s so difficult for doctors to diagnose. It can present itself in up to 180 different symptoms, such as a heart defect that would require open-heart surgery, a low immune system due to a missing thymus gland, facial abnormalities, low calcium which can cause seizures and partial mental retardation. These symptoms range in severity from mild to critical, and no two children are alike.

Cohen was lucky to receive his diagnosis in utero, as many children with 22q go years without one.

“What we were told in the beginning is that the lives of people who have 22q instantly start to get better from the day they’re diagnosed,” Ryan says.

Not ones to feel sorry for themselves, Ryan and Lindsey shared the news with their families and immediately got to work researching 22q.

“Lindsey got on Facebook and got into every possible 22q group,” Ryan says.

“I wanted to know everything, as much as I could because that’s the type of person I am,” Lindsey says. “I figure knowledge is power and nothing can be as scary if you understand it better.”

According to the Dempster Family Foundation—a resource the Garcias turned to early on in their journey and continue to work with today—22q presents itself in 1 in every 2,000 to 4,000 live births, making it the second most common genetic disorder after Down syndrome. Yet, very few parents and health professionals have ever heard of it.

“It’s amazing that something affects so many people, but it doesn’t really get any airtime,” Ryan says. “It just seems like an underserved community, so I want to do whatever it takes to get more people thinking about it.”

Ryan is no stranger to doing whatever it takes to raise awareness for causes he’s passionate about. Remember that crazy guy with the big heart who pledged to perform one random act of kindness every day for a year back in 2012, in honor of his daughter? That was Ryan.

His new endeavor, State of Kind (366randomacts.org), has Ryan performing an act of kindness in each state. And while 2012’s 366 Random Acts of Kindness was for big sister Isla, now 2½, State of Kind is for Cohen and raising awareness for 22q.

“Every act may not be for somebody with 22q, but it’s going to be the overarching theme,” Ryan says.

After a whirlwind night of almost being born on the bathroom floor of the Garcias’ new home, Cohen made his way into the world on Nov. 29, 2013.

And after months of worry about what that moment would be like (Would he be blue? Would he be rushed to the NICU?), Ryan and Lindsey got some good news.

“He looked beautiful,” Ryan says.

“He came to us completely pink, had better Apgar scores than our daughter, and they said he looked great,” Lindsey says.

Cohen’s heart was in better shape than doctors had initially thought. He didn’t have Tetralogy of Fallot after all. He had a small hole in his heart, or ventricular septal defect (VSD), a common condition that often heals on its own.

“This was a huge surprise and I think we thought we may be in the clear,” Lindsey says.

Unfortunately, Cohen faced other struggles.

His breathing was a big concern from early on. He had apneic spells, where he would stop breathing for periods of time. He was losing weight fast and needed a feeding tube.

For more than four months, Cohen continued to have difficulties breathing, at one point even being put into a medicated coma and on a ventilator for nine days, which Lindsey describes as the scariest time of his entire hospital stay.

He was finally released from the hospital (for the longest stretch of time so far—three months and counting!) in early April.

Cohen, now almost 8 months old, is attached to oxygen around the clock and to his feeding pump for 16 hours each day, but is enjoying time at home. He spends his days receiving physical therapy—he’s a tummy time champ—and hanging out with Isla.

“We thought it was going to be a tough transition bringing home somebody with oxygen and all these machines (Cohen’s ‘bells and whistles’) but she doesn’t even notice,” Ryan says. “It’s her little brother and she wants to take care of him.”

To date, Cohen has spent more than half of his short life in the hospital and has received close to 25 procedures, but his parents say his prognosis is good.

“Cohen is a fighter,” Lindsey says. “It’s amazing how much he has been through and yet he is still meeting many of his milestones.”

“He is the happiest baby of all time,” Ryan adds. “I want him to grow up always knowing that he is everything Lindsey and I could have ever hoped for when we found out we were having a boy.”

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