#113 XXY (Klinefelter Syndrome) with Ryan Bregante
Ryan is the president and founder of California-based non-profit Living with XXY. Ryan is a 37-year-old with Klinefelter syndrome or 47, XXY. Klinefelter syndrome results from an extra X chromosome, affecting roughly 1 in 500 males. Ryan’s parents learned about his XXY diagnosis during his mother’s pregnancy. His experiences navigating XXY and those of the over 600 families he’s met help guide and inspire Ryan's work today.
While Ryan’s background includes work as a fine dining chef and action sports photographer, he currently spends most of his time advocating for his community through his non-profit. Living with XXY was officially established in 2019 and focuses on creating a community, spreading awareness, and sharing positive traits for those with an XXY diagnosis. Living with XXY is growing daily, reaching over 40 countries.
Ryan is traveling around the US, meeting with clinics, professors/students, other professionals, and families to share the work of Living with XXY and create opportunities for connection for those with XXY.
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#112 - Mother of Boy with XXY - Brittany P.
Brittany is the mother of a 4 1/2-year-old boy named Callan. Their son was experiencing bloody noses at a young age. After a week in the hospital, Callan was diagnosed with Aplastic anemia, which is a rare but serious blood condition that occurs when your bone marrow cannot make enough new blood cells for your body to work. At the same time, he was also diagnosed with Klinefelter syndrome.
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#111 - Mother and Son - Kelly and Connor Stine, age 17
Kelly Stine is the mother to Connor, who is 17, a senior in high school. Connor encourages other boys his age to share their stories and help build a community for teenagers with XXY. Connor loves to play Roblox and Brawlstars. He also enjoys his government class because his teacher is super funny. At the end of 10th grade, she noticed his maturity was not developing like others. After some blood work, Kelly noticed his FSH levels were off the charts. She started to learn about Klinefelter syndrome and asked her doctor to do a Karyotype. Once he was diagnosed, they did Micro-Tese which came back negative. Kelly says "starting testosterone has been a night-and-day difference for Connor."
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#110 - Early Intervention - Carson Blake
Carson Blake shares with us about her son Louden, who is now four years old and has been in Early Intervention since he was six months old. Carson talks about why EI has been super helpful for her son and his accomplishments. Carson also got her state of Missouri to add Klinefelter syndrome to the First Steps Early Intervention system for infants and toddlers, birth to age three, who have delayed development or diagnosed conditions associated with developmental disabilities.
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#109 - Parents of Boy with XXY - Anne and Chris Price
Anne Price had an NIPT screening due to her age of 41. One week later, while their family was on vacation with their two older kids, Anne received a call while waiting for the Finding Nemo ride at Epcot. Her phone rang. Her OBGYN, who had a very somber tone of voice, delivered the news horribly, telling her the results were a sex chromosome abnormality and the mention of Klinefelter syndrome. He said, "The good news is that your child doesn't have Down syndrome." The call got disconnected, and Anne couldn't leave the line, so she started to cry uncontrollably during the ride.
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