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Genetically Speaking Blog

Code Talker Awards: Lisa Johnson A Rare Friend

Shana Anderson 0 617

Her voice was sweet, but the words hurt. There was nothing she could do to take the pain away or ease the sting. After four consecutive miscarriages, this pregnancy entered the second trimester, so we felt hopeful — but the celebration was short-lived. Our doctor found anomalies during the ultrasound. Visions of pink or blue became gray. We quickly learned what an enlarged nuchal fold meant — darker gray — and then chronic villus sampling (CVS) — darker gray.

Code Talker Awards: Hannah Scanga Amazing Grace

James McGowan 0 434

I am reminded of a line in the famous song “Amazing Grace.” I once was lost, but now am found, was blind, but now I see. My son, James, was born with a rare genetic disorder causing clouding to both of his eyes. By all accounts, he was blind. Today, James not only has vision, but he also, at 4 years old, attends school full time, recognizes pictures in books, and navigates environments comfortably. I directly attribute his success to the selfless service and expertise of Hannah Scanga.

Code Talker Awards: Margaret Au Our Superhero

Janice Hansen 0 477

What is a diagnosis worth? For my family, learning that our daughter, Amy, has the ultra-rare disorder xeroderma pigmentosum/ trichothiodystrophy (XP/TTD) complex after two decades of searching, the value is incalculable. For an insurance company, there is a definite amount — and in 2015 that amount was $9,500.

Questions about Male Fertility? Genetic Counselors Have Answers

Jay Flanagan, MS, CGC 0 562

I’m a genetic counselor who works in a reproductive center. I sometimes see men who weren’t told that cancer treatments could significantly impact their chances of having children, and this isn’t only with the people I see. One study found that 50 percent of healthcare providers never introduce the topic, which is in contrast to 51 percent of the men saying they wanted to father a child in the future. In fact, 60 percent of the men said they didn’t know that cancer therapy could cause infertility.

Managing the Unexpected: Prepare for What Prenatal Screening May Reveal

Blair Stevens, MS, CGC 0 821

I walk into the consultation room to find my patient with tears falling down her flushed cheeks as she tries to keep from audibly sobbing. Her husband holds her hand and avoids eye contact, looking scared and helpless. She is five months pregnant and just had an ultrasound appointment. They expected it to be filled with joy and to leave with cute ultrasound pictures, but instead they’re filled with fear and despair.