News & Stories

News on Wisconsin policymaking and rare disease topics.

StoriesEmbracing the Journey: Navigating Angelman Syndrome with Lucia and Lilah

July 1, 2024

Lucia and LilahLucia and Lilah’s journey to an Angelman syndrome diagnosis was a complex and multifaceted process that began with early signs of developmental delays. For Lucia, the initial concerns arose when she was non-responsive and had critically low blood sugar levels at just 40 hours old. Despite these early warning signs, the path to a diagnosis was not straightforward. It involved numerous assessments and consultations with specialists, without a definitive answer for some time.

The Wisconsin family faced a period of uncertainty, filled with physical therapy assessments and the looming question of cerebral palsy. It wasn’t until Lucia was not meeting developmental benchmarks that the possibility of a genetic condition came into focus. The decision to pursue genetic testing was a pivotal moment, leading to the eventual diagnosis of Angelman syndrome after her second birthday. Angelman syndrome is a rare neuro-genetic disorder characterized by developmental delays, speech impairments, movement and balance issues, and sometimes seizures. It is caused by a loss of function of the UBE3A gene on the 15th chromosome. The condition often presents with a happy demeanor, frequent smiling, and laughter, despite the challenges it brings.

For Maria, the journey took an additional emotional turn when she discovered she was pregnant with Lilah during this diagnostic process.Angelman Family The family grappled with the possibility of Lilah also having Angelman syndrome, which was confirmed through genetic testing shortly after her birth.

The struggles associated with Angelman syndrome are significant. They include navigating the complexities of the healthcare system to secure necessary therapies and interventions, such as Applied Behavior Analysis (ABA) therapy, which both Lucia and Lilah receive for 30 hours a week. The girls also require specialized support in educational settings, with Lucia attending a 4K program with additional services and Lilah participating in preschool with her ABA therapist by her side.

The diagnosis of Angelman syndrome brought clarity to the family’s situation but also introduced a new set of challenges. It required Maria and her husband to become fierce advocates for their daughters, ensuring they received the support and services they needed. This advocacy extended to securing health insurance services, school services, and Medicaid services, often requiring persistence and determination in the face of obstacles.

The journey of Lucia and Lilah is a testament to the resilience of families facing rare genetic disorders. It highlights the importance of early diagnosis, the need for comprehensive support systems, and the power of advocacy in navigating the challenges of Angelman syndrome. Through sharing their story, we can raise awareness and understanding of this condition, and the impact it has on individuals and their families. To learn more about Angelman syndrome, visit