We Are Pro-Information About Down Syndrome

Sitting in the hospital, we were left to sort through the questions, "What is Down syndrome? What does this mean for him? For our family? For us? Where is our family headed?"
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Being dealt a full house, trying to win the lottery or attempting to pick the perfect March Madness bracket; the odds are against you ... and it's not even close.

Having a child with Down syndrome is more likely to happen than any of those acts, and it's completely random.

Down syndrome is the most common chromosomal condition, present in approximately one out of 800 babies born each year. However, the odds of a child being born with the extra chromosome are up to chance, and have little to do with family genetics and none to do with race, social status or living conditions.

It's as random as it gets, and my wife -- Jenny -- and I won those sweepstakes 18 months ago, much to our surprise.

In fact, it was shocking and a long shot with the odds of our son -- Gianluca -- having Down syndrome at 530 to 1, according to the screening test.

You would have received better odds from Las Vegas for Dayton winning the NCAA tournament at 500 to 1, while the Houston Astros are the most unlikely team to win this year's World Series at 250 to 1. Picking the United States to win this summer's World Cup would fetch you 125 to 1.

Sitting in the hospital, we were left to sort through the questions, "What is Down syndrome? What does this mean for him? For our family? For us? Where is our family headed?"

We didn't prepare for this!

For two educated adults in our 30s, we frantically tried to research and turned to the place most people our age turn to: Google.

We gave ourselves a crash course in Down syndrome education, but much of the information wasn't credible. We then turned to family with experience, speaking to and meeting with Jenny's mom Linda Miller, a retired nurse, while calling my cousin Mary Jo DiMilia, a pediatrician in New York, and my sister Marcella Clatworthy, an Italian teacher in New Jersey, hoping to allay our fears after what we read on the Internet.

We knew nothing about Down syndrome, and Google wasn't helping. Our family, however, helped immensely.

The emotional ups and downs have been chronicled in a recently released free e-book found here with our specific stories found here under "Gianluca."

The book shows how others went through similar roller coasters of emotion, whether being a birth diagnosis like ours or a prenatal one.

The shared experiences also spawned the Down Syndrome Diagnosis Network (DSDN), a non-profit organization designed to help families and doctors with accurate, unbiased and up-to-date information and support regarding a Down syndrome diagnosis.

The organization -- which Jenny helped launch last week -- isn't pro-life or pro-choice, it's pro-information. It's looking to give families the necessary information needed to make a decision, plan for the future or even calm any fears like the ones we experienced after hearing, "Your baby has Down syndrome."

Perhaps DSDN can also help doctors deliver the diagnosis, as research shows many physicians aren't adequately prepared to do it.

According to research:

  • 81 percent of medical students report they "are not getting any clinical training regarding individuals with Down syndrome."

  • 58 percent of medical school deans say such training is not a high priority.
  • 45 percent of ACOG fellows and junior fellows rated their residency training regarding prenatal testing for fetal aneuploidy as "barely adequate or nonexistent."
  • Only 28 percent of ACOG fellows felt "well qualified" in general prenatal genetic counseling.
  • DSDN will offer families the tools to respectfully share feedback with the healthcare professional who delivered their child's diagnosis and follow-up with updated literature and expert recommendations on how to deliver a diagnosis.

    Hopefully, this can help families avoid that emotional roller coaster, no matter the odds.

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