Amalia is a brave and radiant little girl from Puerto Rico who, since birth, has faced significant medical challenges. She was diagnosed with Moebius syndrome, a rare neurological condition that affects the cranial nerves and impacts essential functions such as facial expression, eye movement, feeding, and speech. Due to the complexity of her condition, Amalia depends on a tracheostomy to breathe safely and a G-tube to receive proper nutrition. Both require constant medical care, daily monitoring, and dedicated attention from her family. These needs affect not only her physical health but also her overall development and quality of life. Amalia currently receives occupational therapy, speech therapy, and physical therapy. These therapies are essential in helping her build motor, communication, and functional skills. Every therapy session is a step forward toward greater independence, and every small achievement is celebrated as a huge victory for our family. Recently, in December, we received important genetic results that gave us a deeper understanding of her condition. Amalia tested positive for a mutation in the TUBB3 gene. This discovery has helped explain many of the medical challenges she faces, but it has also introduced new needs for specialized genetic follow-up, ongoing evaluations, and targeted support and care. Despite all these obstacles, Amalia is incredibly strong, loving, and resilient. Even when her facial muscles cannot fully express her emotions, her spirit shines through her eyes, her determination, and her daily effort to keep moving forward. As a family, we have learned to adapt, to advocate, and to fight tirelessly to give her the best opportunities possible. Support from a foundation dedicated to genetic conditions related to TUBB3 mutations would make a profound difference in Amalia’s life. It would help us access specialized resources, guidance, therapies, and medical support that directly impact her health, development, and overall well-being. We are deeply grateful for the opportunity to share Amalia’s story and for any support that helps us continue this journey with hope, love, and determination.
Do you have a family member diagnosed with a TUBB3 variant? You can help spread awareness and bring understanding to others by sharing your story.
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