Rare PIGC Disease: A Family’s Struggle for Care

The life of eleven-year-old Miriam is marked by an extraordinarily rare genetic condition known as PIGC, identified by the abbreviation of the mutated gene. This disease, often associated with severe cognitive delays, presents a multitude of devastating symptoms and a significant challenge for her family.

Understanding PIGC

PIGC is an extremely rare genetic pathology. Miriam does not speak, walk, or eat independently, and experiences drug-resistant epileptic seizures. The condition is degenerative, meaning it worsens over time. Although treatments can manage some symptoms, like epileptic seizures, there is currently no cure, and interventions primarily focus on slowing the disease’s progression.

A Decade of Struggle

Miriam’s parents, Viviana and Davide, have faced nearly ten years of exhausting struggles since her birth in September 2014. The search for a diagnosis was lengthy and demanding. After a long investigation, including participation in a research project in the United States, Miriam received a diagnosis in June 2018. Doctors discovered that she represents only the fourth known case of this specific genetic mutation worldwide, and potentially the most severe.

The Impact on Daily Life

Due to her fragility, Miriam spends her life in bed or in her parents’ arms, limiting her normal social interactions. Her existence is defined by constant care, attention, and a degree of forced isolation.

Challenges with the Healthcare System

Viviana and Davide express frustration with the lack of support from the healthcare system. They report that, despite the rarity of the condition, there are no provisions for home care assistance, leaving the entire burden of care on the family. They emphasize that rarity should not be a barrier to receiving necessary support, and that families facing such challenges should be provided with resources to manage their loved one’s condition.

A Plea for Support

The family’s experience highlights the difficulties faced by individuals and families dealing with ultra-rare diseases, and the need for improved support systems to address their unique needs.