Meet Augusto
My name is Kamila, and I am Augusto’s mother. We live in Brazil.
Augusto is currently 1 year and 3 months old. Our journey began very early. After he was born, a brain MRI revealed several significant findings, including agenesis of the corpus callosum, absence of the septum pellucidum, and cortical dysplasia. These findings led us to begin a long search for answers and a better understanding of what they could mean for our son’s future.
After many medical appointments and genetic testing, we received the diagnosis of a DYNC1H1 genetic variant. Because this condition is extremely rare, finding information and connecting with other families who share similar experiences has been challenging.
When Augusto was 5 months old, we faced another unexpected challenge: he was diagnosed with cataracts. He underwent surgery to correct them and currently wears glasses. It was a difficult time for our family, but he handled everything with incredible strength.
So far, Augusto has not developed epilepsy, which is something we know many families affected by neurological conditions worry about. We are very grateful for this and continue to monitor his development closely with his medical team.
Augusto has developmental delays and faces challenges in his daily life, but he is also a very happy, loving, and determined little boy. Every achievement is celebrated by our family. What may seem like a small milestone to others is a huge victory for us.
Recently, we have seen wonderful progress. Augusto is becoming more interactive, responds more to the people around him, smiles often, babbles sounds like “ba,” “ma,” and “ta,” and continues to develop new motor skills. Small achievements, such as reaching and playing with his feet, fill our hearts with joy and hope.
He attends therapy regularly, and we are deeply grateful to all the professionals who help him reach his full potential. We have learned that every child develops at their own pace and that every step forward deserves to be celebrated.
One of the things Augusto loves most is being close to the people he loves. He enjoys interaction, affection, attention, and spending time with his family. His joyful spirit brightens our days and reminds us to appreciate every accomplishment, no matter how small.
Through the DYNC1H1 Association, we’ve been able to connect with other DYNC1H1 families, which has been incredibly meaningful for us. In Brazil, we have connected with a small number of families affected by this condition, making these connections even more valuable. Sharing experiences helps us learn, find hope, and realize that we are not alone.
We hope that by sharing Augusto’s story, we can encourage and support other families who are just beginning their own journey and show that, even in the face of uncertainty, there is always room for hope, love, and progress.
With love, Kamila and Augusto Brazil
