Joey is a sweet, observant, and joyful child with a great curiosity about the world. He loves climbing, running, playing with blocks and playdough, having fun in the water, and listening to rock and roll. His name is uncommon in Brazil and was chosen in honor of Joey Ramone, the lead singer of the band Ramones.

Diagnosed at the age of 3, Joey was, as far as we know, the first identified case in Brazil. This challenge awakened a strong sense of purpose in our family, leading us to create an Instagram page to share information and connect with people from all around the world.

Joey also has a Motor Speech Disorder and Autism. He participates in multiple therapies and shows steady and encouraging progress. Recently, he began using somatropin to support his growth, with positive results in a short period of time.

For our family, Joey is a daily source of learning, teaching us about patience, resilience, and the transformative power of love. Although the genetic condition is part of his journey, it does not define who Joey is.

Charlotte was diagnosed with BPTF-related neurodevelopmental disorder just before she turned two and a half. It was especially challenging before her diagnosis, filled with uncertainty as we searched for answers and support. Finally having answers brought our family a deep sense of relief and direction, reminding us how powerful understanding can be. That season in our lives taught our family so much about resilience, patience, and faith.

Along her journey, Charlotte has faced medical and developmental challenges, including growth faltering and a congenital heart condition that required PDA closure in July 2025. Since she was one year old, Charlotte has been supported by a feeding tube, which has played an important role in supporting her growth. With the care of her medical team and ongoing support at the Mayo Clinic, Charlotte continues to make meaningful progress in her health and development. We are also deeply grateful to have found a community of parents, caregivers, and individuals affected by the same syndrome, a place to lean on one another for support and to learn together along the way.

While BPTF is part of Charlotte’s story, it doesn’t define who she is. Charlotte truly lights up a room, her natural charm brings joy to everyone around her, and she is deeply loved by all who meet her. She has a sweet heart, a bright mind, and a goofy personality that makes everyone smile. She enjoys school, loves her friends, works hard every day to learn and grow, and we celebrate every milestone, big and small. Charlotte loves her family and cherishes time together, play, and adventures, teaching us daily about perseverance, gratitude, and unconditional love.

James is a very sociable and engaging young adult. He loves to chat and will talk about all that he loves, which include cars, coffee and cake! He also likes to go for a walk, especially if we can stop at a coffee shop. He loves cars and has done since he was 2 years old. He loves to talk about them or play car games on his PS4. He also loves to collect model cars and can browse for hours looking for the perfect car.

James was diagnosed with BPTF in 2016 when he was 12 years old. He was one of the first children in the world to be diagnosed with this disorder. This was a new discovery back then and we had no idea what to expect with James growing up. We didn’t have many families who had this disorder and we didn’t know to navigate through this.

James has many features of this syndrome, including Autism and Learning Difficulties, but he doesn’t let this stop him enjoying his day. Growing up, he had lots of help and hospital visits, ranging from help with his speech and language and a dietitian to help him put on weight as he is very small.

Everyday James surprises me. He is a very happy person and he loves living his life. He makes the most out of everyday.

We call Sage the sunshine in our days – she is the most loving, warm, resilient, and determined person we know.

Her greatest loves in life – aside from her family and friends – are chocolate and dogs. In many ways she is a typical four year old, loving imaginary play with her older brother, enjoying the beach, swings and the trampoline.

Sage was the first person diagnosed with BPTF in Australia, when she was 3 years old. Until her diagnosis, she was a beautiful and complex puzzle to her medical and therapy teams. Finding out about the syndrome was the thread that we needed, to better understand and support her.

Sage lives with many of the known features of the syndrome and has received early intervention therapies since her first year of life to help her development across each domain. She is making positive progress.

While the syndrome is a defining feature of her life story, it doesn’t define who she is.

Sage has such an innate generosity, so we try to emulate that in our advocacy efforts to connect families, build awareness and propel research forward.