On any given day, Marci and Matt Tatham follow their giggling, nearly 2-year-old son, Jack, through their cozy Playa Vista apartment. The space is custom designed to cater to Jack’s curiosity and sensory development. A space shuttle fort allows for easy games of peekaboo. Toy airplanes and helicopters hover near the ceiling, and a playhouse on the patio opens the door to Jack’s imagination.
Engaging Jack’s senses during playtime helps keep his development on track. Though nothing in the toddler’s chipper demeanor indicates it, he has a rare syndrome that can lead to developmental delays in the short term and more serious outcomes later.
Marci Tatham learned she was pregnant just two weeks before running the New York City Marathon in 2017. Diagnosed with Type 1 diabetes in 2012, she was determined to join her fellow Type 1 teammates. “It never occurred to me not to run, but because I was pregnant, I decided to trot rather than run at full speed,” she says. “I realize now that running that race somewhat represents Jack’s life and how it’s beginning to take shape.”
Even though Tatham was only 26 at the time, diabetes put her pregnancy into a high-risk category. So when she was about 10 weeks along, her Cedars-Sinai obstetrician encouraged her to undergo a noninvasive prenatal screening for genetic abnormalities in her baby.
“The genetic counselor told me I tested positive for a chromosomal abnormality that’s only present in males,” Tatham recalls. “That’s how I found out we were having a boy.”
She froze, paralyzed with fear, confusion, anger, sadness and denial. There was a 33% chance her son would be born with Klinefelter syndrome, a disorder that affects about 1 in 650 newborn boys. Klinefelter syndrome occurs when boys are born with an extra X chromosome, in addition to the usual XY that identifies males.
The presence of an extra X chromosome may result in underdeveloped testes, testosterone insufficiency, and delayed or incomplete puberty—and it almost universally results in low sperm count. Affected boys can experience speech delays, decreased muscle tone and social-emotional deficits. The syndrome is also associated with mental health disorders, autoimmune conditions, metabolic syndromes and certain types of cancer.
“My mind was reeling,” Tatham says. “If Jack has Klinefelter syndrome, what will that look like for him? Will he be ‘normal’? Will he excel in school? Will he be able to have children?”
But it’s not in the Tathams’ DNA to get bogged down with negative possibilities. Fortunately, Matt Tatham was able to draw on his career skills and training. As manager of demand planning for The Honest Company, his mind is primed to forecast and strategize. The pair hit the ground running, poring over research papers, scouring the internet for parent support groups and spending hundreds of hours online learning about Klinefelter syndrome.
The couple also found a “coach”—Karina Eastman, MD, a pediatrician at Cedars-Sinai—to help them navigate the rocky terrain after Jack tested positive for Klinefelter shortly after his birth.