José Miguel Abrantes Figueiredo, a 39-year-old living in Portugal, shares his story of navigating life with VPS13A disease (also known as chorea acanthocytosis), a diagnosis he received in 2024. His journey, marked by years of undiagnosed challenges, has led him to find strength in artistic expression and a renewed sense of purpose.

José's childhood was difficult, with struggles in school and learning. He often felt distracted and clumsy, experiencing bouts of anger. At 19, during a routine blood test for throat surgery, high CPK levels were discovered. This led to muscle biopsies and consultations with private neurologists, but a diagnosis remained elusive. José continued his life, managing periods of depression with psychological support.

In 2017, an accident exacerbated his physical difficulties. After losing four teeth, he developed an unsteady gait. In 2022, a period of deep depression led to a hospital stay, where an MRI revealed signs of VPS13A disease. Genetic testing for Huntington’s disease came back negative. José proactively began therapies, including physiotherapy, hydrotherapy, and speech therapy.

Finally, in 2023, after years of searching, José's case was transferred to a neurogenetics team. A genetic test confirmed the diagnosis of VPS13A disease in January 2024.

Currently, José is under the care of a multidisciplinary team at Santa Maria Hospital in Lisbon. He continues with various therapies, including speech, physio, occupational, hydro, and equine therapy.

Beyond his medical journey, José is a talented artist. He published a poetry book, "Desabafos Por Escrito" ("Written Confessions"), in 2022. He's also a theatre actor, having worked as an extra in various productions. He put together a one-man show, "Quando Eu Chegar à Coreia Eu Te Digo" ("When I Reach Chorea, I'll Tell You"), a monologue about living with VPS13A disease. The performance included singing, another passion of his. See photos from the show together with other life moments José shared with us.

José is discovering new strengths as he lives with his condition. He finds he runs better than he walks and enjoys drawing, which helps his fine motor skills. He embraces challenges and feels a strong drive to overcome obstacles. One of his biggest challenges has been finding something creative to do every day, but he enjoys pushing himself.

Despite the limitations imposed by his condition, José Miguel manages to achieve extraordinary things. He has experienced various sports, including football, tennis, athletics, boxing, and target shooting, proving that nothing can stop him from living life to the fullest.

José offers a powerful message of hope and resilience to others living with Chorea-Acanthocytosis:

"We are all special, and we will not stop living this wonderful life. I know we are capable of accomplishing anything in this grand adventure. Our strength is unstoppable, and this is how we must always think. We will face many difficulties, but we will overcome them. With our strength, nothing will stop us.

Being born with a rare disease does not mean being different or special. It simply means being who I am and making the most of life."