The Hidden Impact of CLN3 Disease on Families: A Call to Action for Practitioners

CLN3 disease, also known as juvenile neuronal ceroid lipofuscinosis or Batten disease, is a rare pediatric neurodegenerative disorder with devastating effects not only on those diagnosed but also on their families. Recent research titled "The parent and family impact of CLN3 disease: an observational survey-based study" sheds light on the profound challenges faced by parents and caregivers. As practitioners, understanding these impacts is crucial in providing comprehensive care and support.

Understanding the Family Impact

The study involved semi-structured interviews with 39 parents of individuals with CLN3 disease. It highlighted several key areas where families experience significant strain:

• Financial Burden: A staggering 81% of respondents reported financial impacts due to CLN3-related expenses, consuming an average of 13% of family income.
• Marital Strain: Nearly half (46.5%) of the participants reported marital strain related to the disease, with some cases leading to divorce or separation.
• Cognitive and Behavioral Challenges: Parents reported a high prevalence of insomnia (86%), anxiety (69.8%), and depression (39.5%) among their children, highlighting the need for targeted therapeutic interventions.

The Path to Diagnosis and Treatment

A critical finding from the study was the average time from first symptoms to diagnosis—2.8 years—with a high rate of misdiagnosis (55.8%). This delay underscores the importance of early detection and accurate diagnosis in improving outcomes for families.

The desire for therapies that address vision, cognition, and mobility was evident, reflecting parents' top concerns. Fortunately, ongoing research into gene therapies and other treatments offers hope for more effective interventions in the near future.

A Call for Enhanced Practitioner Support

This research serves as a call to action for practitioners to deepen their understanding of CLN3 disease's impact on families. By doing so, they can improve their skills in supporting affected families through:

• Enhanced Diagnostic Tools: Utilizing advanced diagnostic techniques to reduce misdiagnosis rates.
• Palliative Care Strategies: Developing comprehensive care plans that address both physical symptoms and emotional well-being.
• Family Support Programs: Establishing robust support networks to alleviate financial and emotional burdens on families.

The journey for families affected by CLN3 disease is fraught with challenges, but by implementing insights from this research, practitioners can play a pivotal role in easing their burden.

The parent and family impact of CLN3 disease: an observational survey-based study