Insights from Dr. Karen Wilber, Audiology Expert
Understanding Hearing Loss in GACI and Related Genetic Conditions
Hearing loss is a meaningful and often under-recognized complication for individuals living with Generalized Arterial Calcification of Infancy (GACI) and related genetic conditions such as ENPP1 deficiency, ABCC6 deficiency, and ARHR2. In this educational webinar, Dr. Karen Wilber provides a clear, compassionate overview of how hearing loss can develop, how it is evaluated, and why early and ongoing monitoring is so important for affected individuals and families.
About Dr. Karen Wilber
Karen Lincoln Wilber, Au.D. is a Specialty Audiologist for Tinnitus and Decreased Sound Tolerance (DST) Issues at Boston Children’s Hospital. She is an American Board of Audiology–certified clinical audiologist, a Fellow of the American Academy of Audiology, and a certified Tinnitus Retraining Therapy (TRT) provider.
Dr. Wilber specializes in tinnitus, sound tolerance disorders, and complex or progressive hearing loss—areas especially relevant to individuals with rare genetic and metabolic conditions. She also serves on the Medical Advisory Board of Brighter Hope Foundation, supporting education and improved care for families affected by GACI, ENPP1 deficiency, ABCC6 deficiency, and ARHR2.
In this webinar, Dr. Wilber offers clear, patient-centered guidance to help families better understand hearing health, evaluation options, and when to seek specialized audiologic care.
How Hearing Loss Relates to GACI and ENPP1/ABCC6 Deficiency
Individuals with GACI and related disorders may experience progressive hearing loss due to abnormal calcification and mineralization affecting structures of the ear. Dr. Wilber explains that hearing loss in these conditions can:
- Develop gradually over time, rather than being present at birth
- Affect one or both ears
- Progress at different rates from person to person
Because GACI, ENPP1 deficiency, and ABCC6 deficiency involve systemic mineral imbalance and soft-tissue calcification, the delicate bones and joints of the middle ear may be impacted. Over time, this can interfere with sound transmission and auditory function.
Types of Hearing Loss
In the webinar, Dr. Wilber reviews common forms of hearing loss that may be seen in individuals with rare calcification disorders, including:
- Conductive hearing loss, often related to stiffness or fixation of the middle ear bones
- Mixed hearing loss, involving both conductive and sensorineural components
- Progressive hearing changes, which highlight the need for repeat evaluations
She emphasizes that hearing loss may not always be obvious early on, making proactive screening essential.
The Importance of Early and Ongoing Hearing Evaluations
A key theme of the webinar is the value of routine audiologic monitoring, even when no symptoms are present. Dr. Wilber explains that early identification of hearing changes allows families and care teams to:
- Track progression over time
- Implement supportive interventions sooner
- Reduce the impact of hearing loss on speech, learning, and quality of life
For children in particular, untreated hearing loss can affect communication, education, and social development.Hearing needs may evolve from childhood into adulthood. Some individuals may experience stable hearing for years, while others may notice gradual changes later in life. Regular hearing assessments and ongoing collaboration between audiologists, medical specialists, and families help ensure care adapts over time and supports comprehensive, lifelong management for individuals with GACI and related conditions.
Supporting Individuals and Families
Beyond the medical aspects, the webinar acknowledges the emotional and practical challenges that hearing loss can present. Dr. Wilber highlights the importance of:
- Clear communication between families and healthcare providers
- Access to specialists familiar with rare conditions
- Education and advocacy so individuals can fully participate in school, work, and daily life
Learn More and Access Support
This webinar is part of Brighter Hope Foundation’s commitment to providing trusted education, expert insight, and community support for individuals and families affected by rare genetic calcification disorders.
Learn More
Explore resources on ENPP1 deficiency, GACI, and related genetic conditions:
