#98 - Parents of Boy with XXY - Mariah and Romone

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.

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.

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."

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.

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.

Colleen Sander's son, Jackson, was born at 29 weeks and wasn't speaking at the age of two. Once Jackson started school, he was given speech therapy, and over time, something didn't seem right for Colleen. Jackson, 14, had some routine blood work done a few days before receiving a strange phone call from the NHS on a Sunday evening around 9 p.m. The doctors asked for him to come back and do some follow-up testing. Colleen jumped on Google to research what the results might have meant. She started to cry when she was reading about Klinefelter syndrome, checking all the boxes off that this was most likely what her son could have.

Jessica Henderson's journey to diagnosis started with her firstborn son, Clay, who is now 18. When Clay was two, Jessica's Grandmother offered to pay for speech therapy. School started to become challenging for Clay in the third grade. One of the teachers told Jessica at a parent-teacher conference, "I've just learned to expect less from your son".

Michael Bush is the father to Carson, an 18-year-old diagnosed with XXY at 15, and together, they want to inspire other young men and their parents to do a podcast. Carson shares his story, from being unable to talk about XXY to his love of teaching people about it. At the age of three, Carson hit his peak in growth, and by the time he was five, he started taking growth hormones. Around 12, Carson was experiencing mobility issues, and their family doctor thought he might have Heller and Danlos syndrome. Michael wants people to know that having a child with XXY is okay. Carson grew up being a normal child, riding bikes and playing outside. Michael also wants to encourage parents not to shelter their boys because of this diagnosis and says everyone will face challenges in life.

Carolina is the first person from Brazil to share her story on our podcast. She was 35 when she was pregnant so her OBGYN was concerned due to her older age. She asked her to proceed with doing an NIPT. After the results came in, her doctor called her and said she was having a boy with XXY. The doctor also told her his life would be fine, and that he might have troubles with fertility. Her son is also a rainbow baby, which seems very common among our XXYcommunity.

Melvin Amantiad was born and raised in Hawaii. When Melvin was in his early 20s (1980s for reference), he went in for a check-up for prostate cancer because he was having pain in his growing/stomach area. Because of his body shape, his doctor suggested doing a karyotype test. The test results came back positive for XXY. He was given a pamphlet from the doctor and sent on his way. His doctors scared him with the idea of being put on hormone treatment that it would make him very aggressive and get into trouble with the law.