Mom ‘Terrified’ After Results from Prenatal Testing Reveal Son Had XXY Chromosome: ‘My Entire World Shattered’ (Exclusive)

NEED TO KNOW

• Stephanie Nicklow shares her son Theodore’s journey with Klinefelter Syndrome to raise awareness and support others

• Theodore was diagnosed through genetic testing and now receives early intervention services, including speech therapy

• Nicklow’s TikTok videos about Theodore’s diagnosis have gone viral, amassing millions of views

When Stephanie Nicklow was pregnant with her son, Theodore, she went in for standard non-invasive prenatal testing (NIPT), but when the results came back, her “entire world shattered.”

The test came back positive for Klinefelter Syndrome. According to the Mayo Clinic, Klinefelter Syndrome is a genetic condition where the “assigned male at birth has an extra copy of the X sex chromosome instead of the typical XY,” impacting testosterone production. This can impact development, muscle mass, speech, energy levels and, down the line, impact the possibility of having children.

“I was terrified. I have heard of Klinefelter Syndrome before, but I did not know much about the chromosomal disorder,” Nicklow shares. “Upon researching Klinefelter’s, I decided to decline amniocentesis because Klinefelter’s syndrome wasn’t life-threatening, and his 16-week genetic scan came back normal. He was tested after birth through a blood test called karyotyping.”

When his karyotype blood test came back positive for Klinefelter Syndrome, Nicklow immediately signed him up for early intervention and a pediatric geneticist.

“He is auto-eligible for early intervention because of his diagnosis. At first, he only received service coordination. However, by the time he was 15 months old, he started receiving speech therapy twice a month,” she shares. “He had hit all his milestones except for speech. He has seen the pediatric geneticist twice, and he has an upcoming appointment this summer.”

The mom of three says the only thing Theodore’s diagnosis has changed about her parenting is that she has now learned to “slow down and embrace the chaos.”

Theodore is her youngest son, and Nicklow shares that, aside from his diagnosis, he is a “typical 2-year-old toddler.”

“He is the youngest of three boys. He loves to play with his big brothers, play outside and play in the water. He is so adorable, cuddly and so sweet,” she tells PEOPLE.

Now, she shares Theodore’s story on TikTok to “raise awareness and so others don’t feel so alone.”

“I learned in 2024 that the last day of February every year is National Rare Diseases Day. I have seen others on social media share about themselves or their child. I wanted to share about Theodore and his Klinefelter diagnosis,” she explains. “That first video received a lot of views. I have a few TikTok videos that have gone viral on Theodore.”

Her most recent viral video of her son has over 1.6 million views. In the short video, she explained that while he “looks like a normal toddler,” he has a chromosomal disorder.

She says the responses to her videos are “mostly positive.”

“I’ve had other moms reach out to me who are pregnant, and their son has been diagnosed with Klinefelter Syndrome. I share my experience with them and help them ease their mind,” she says. “I have had other people share that they have a loved one or a friend with Klinefelter Syndrome. I’ve had men share that they have Klinefelter Syndrome. I have others say they have learned something new.”

She emphasizes that Klinefelter Syndrome “is one of the mildest chromosomal disorders, and men with this disorder will have fairly normal and healthy lives.”

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However, in November 2024, Nicklow also went viral after posting a TikTok about the threat to Theodore’s future treatment if there is a potential ban on gender-affirming care, which can include testosterone shots.

“My son was born with Klinefelter’s Syndrome. He has an extra X chromosome, XXY,” she wrote in the clip. “He will need testosterone replacement therapy when he goes through puberty. That is gender-affirming care. I am scared that gender-affirming care will be banned on a federal level.”

Nicklow emphasizes to PEOPLE that “sex and gender is so complex” and wide-sweeping bans do not take that into account.

“Yes, Theodore has an extra X sex chromosome, but he is still male. He is not intersex,” Nicklow shares.

She notes that, since posting that video, “over 25 states have enacted laws restricting or banning access to puberty blockers, hormone therapy and surgical care for transgender youth under 18.”

The mother emphasizes that this could impact her son as well.

“Gender-affirming care is just not for transgender youth. This will affect cisgender children like Theodore,” she says. “He will need testosterone replacement therapy when he is older since his body will produce low testosterone. Will he be denied his gender-affirming care?”

Read the original article on People