A Brazilian Mom’s Story of AADC Deficiency and Hope
Richard Poulin IIII was excited to interview Juliana, a mother of a son with AADC deficiency, in San Paulo, Brazil. We filmed the interview in October 2022, but it took some time to translate. Fortunately, I was able to post this when there was a significant development in their story. Be sure to listen until the end.
I met Juliana during a parent meetup online in 2020 hosted by the AADC Family Network. Despite us not sharing the same language, you could feel her passion for her son and the AADC deficiency community in Brazil. We are from different parts of the world, yet we have similar stories and desires for our community as a whole. I enjoyed her openness and was motivated by her determination.
She agreed to help document her story, which deserves to be captured in more detail. For years she fought for her son and community to receive gene therapy. At five years old, she finally received an opportunity for her son to participate in a clinical trial in the USA. However, during testing, they learned he was not qualified to participate. Through all her challenges, Juliana never gave up hope and always fought for her son as she did from the first day.
This is a glimpse of her journey.
Gene Therapy Prayers Answered
Shortly after recording this interview, Julian received the news that she had been praying and fighting for.
Just before Joao’s 5th birthday and just in time for Christmas, he received Gene Therapy in Ohio, USA on December 08, 2022.
Juliana’s hard work and commitment paid off. She said she had dreamed of this moment and had learned much about Professor Krystof Bankiewicz when she first learned about AADC deficiency.
Since Joao was 2 she tried to get treatment for her son. She had to overcome countless challenges. Today João recuperating well with smiles and laughter. It seems he knew that this last challenge was the doorway to healing for him ❤️
Interview Questions
Você pode fornecer uma breve visão geral de sua família? Qual é o seu nome e de onde você é?
Como foi o nascimento de seu filho e quando você começou a se preocupar que algo não estava certo?
Como foi a jornada diagnóstica? Quando você finalmente soube que seu filho tinha uma doença rara?
Seu filho foi diagnosticado erroneamente durante sua viagem? Se sim, o que os médicos achavam que ele tinha?
Onde você buscou apoio?
O que você fez para cuidar e como você aprendeu a cuidar da deficiência de AADC?
A terapia genética oferece aos pacientes esperança de uma vida mais plena. Você pode explicar sua experiência ao tentar obter este tratamento para seu filho.
Que conselho você daria a outros pais que enfrentam dificuldades semelhantes? Como você se mantém motivado e esperançoso para sua família?
