FIRST Survey Highlights the Emotional, Social, and Daily Challenges Faced by People Living with Ichthyosis, Reinforcing the Need for Better Treatments and Support
The Foundation for Ichthyosis & Related Skin Types (FIRST) has released the findings of its comprehensive Patient Voice Survey, offering new insight into the everyday realities faced by individuals living with ichthyosis and related rare genetic skin disorders. The survey, one of the largest efforts to capture the perspectives of patients and caregivers in the ichthyosis community, reveals that the condition affects far more than physical health, with the overwhelming majority of respondents reporting significant emotional, psychological, and social challenges.
According to the survey, approximately nine out of ten respondents said ichthyosis has had a meaningful emotional or psychological impact on their lives. In addition, many participants described the considerable burden associated with daily treatment routines, difficulties accessing knowledgeable healthcare providers, financial pressures, and an urgent desire for more effective therapies.
The findings provide valuable patient-centered data that FIRST believes will help shape future advocacy initiatives, research priorities, educational programs, and clinical development efforts aimed at improving the lives of individuals affected by these rare disorders.
Understanding Ichthyosis and Its Impact
Ichthyosis refers to a group of rare inherited skin diseases characterized by abnormal skin barrier function that leads to persistent dryness, excessive scaling, cracking, and skin thickening or thinning. Depending on the specific subtype, symptoms may range from relatively mild to severe and can significantly affect mobility, comfort, appearance, and overall quality of life.
Every year, an estimated 300 infants are born with moderate to severe forms of ichthyosis. Despite advances in understanding the genetics of these disorders, there is currently no cure, and the U.S. Food and Drug Administration (FDA) has not approved any therapies specifically indicated for treating ichthyosis.
As a result, most patients rely on supportive care, including moisturizers, topical medications, bathing routines, and other skin management techniques designed to reduce symptoms rather than address the underlying disease.
Recognizing the need to better understand the patient experience beyond clinical symptoms, FIRST developed the Patient Voice Survey to document how ichthyosis influences nearly every aspect of daily life.
Looking Beyond the Physical Symptoms
While physicians often evaluate ichthyosis based on visible skin manifestations, the survey demonstrates that patients experience a much broader range of challenges that extend well beyond the skin.
The questionnaire explored topics including emotional well-being, daily care routines, family life, healthcare access, treatment burdens, financial costs, social interactions, and expectations for future therapies.
By gathering firsthand perspectives from patients and caregivers, FIRST hopes to ensure that future research and healthcare initiatives more accurately reflect the priorities and needs of the ichthyosis community.
Chris Boynton, Chief Executive Officer of FIRST, said the survey confirms what many patients and families have long expressed.
According to Boynton, ichthyosis influences far more than physical appearance. It affects emotional health, daily schedules, relationships, healthcare experiences, and expectations for better treatment options.
He explained that the survey provides a clear message from the community that greater investment is needed in patient support services while continuing efforts to accelerate scientific research aimed at developing improved therapies.
Emotional and Social Well-Being Remain Major Challenges
Among the survey’s most striking findings was the significant emotional toll associated with living with ichthyosis.
Approximately 90 percent of respondents reported experiencing emotional or psychological effects related to their condition.
These challenges may include anxiety, stress, reduced self-confidence, frustration, feelings of isolation, or concerns about social acceptance.
In addition, roughly eight out of ten respondents indicated that ichthyosis negatively affects their social lives.
Visible skin symptoms often make social interactions more difficult, particularly for children and adolescents who may encounter misunderstanding, unwanted attention, or stigma.
Many adults likewise reported challenges in maintaining relationships, participating in community activities, or feeling comfortable in public settings.
The survey suggests that emotional support should become a larger component of comprehensive ichthyosis care alongside medical treatment.
Daily Skin Care Requires Significant Time and Financial Commitment
Managing ichthyosis requires ongoing attention throughout each day, and survey participants highlighted the substantial commitment involved in maintaining their treatment routines.
Approximately seven in ten respondents described their daily care regimen as burdensome or difficult to follow.
These routines often involve multiple applications of moisturizers, specialized creams, bathing procedures, exfoliation techniques, and other supportive treatments necessary to reduce discomfort and maintain skin health.
The survey found that three-quarters of respondents spend at least 30 minutes every day managing their skin condition.
For many families, the commitment is considerably greater.
Approximately one-quarter of participants reported spending between one and two hours each day completing their treatment routines.
Beyond the time investment, financial costs also represent a significant concern.
Nearly three-quarters of respondents spend more than $50 each month on skincare products and treatment supplies.
About 20 percent reported monthly expenses exceeding $200, reflecting the ongoing cost of managing a chronic condition for which few targeted treatment options currently exist.
Access to Specialized Care Continues to Be Difficult
The survey also identified persistent challenges related to obtaining appropriate medical care.
More than half of respondents experienced delays before receiving an accurate diagnosis.
For individuals living with rare diseases, diagnostic delays can postpone access to supportive care, educational resources, and appropriate medical management.
Even after diagnosis, finding healthcare providers with expertise in ichthyosis remains difficult.
Approximately two-thirds of participants reported that locating physicians familiar with the condition—or willing to learn about it—continues to be a significant obstacle.
Limited specialist availability may require patients to travel long distances or coordinate care among multiple providers.
The survey suggests that improving physician education and expanding access to specialists could substantially improve the patient experience.
Families Want More Information and Better Support
Beyond medical treatment, respondents identified numerous areas where additional support would improve quality of life.
Among the most frequently requested resources were improved access to specialists with expertise in ichthyosis, educational materials explaining disease management, opportunities to connect with other affected families, mental health services, financial assistance programs, and clearer information regarding available treatment options.
These findings indicate that comprehensive care for ichthyosis should extend beyond clinical appointments to include emotional support, educational initiatives, and community engagement.
FIRST believes these services can help patients and caregivers better navigate the long-term challenges associated with the condition.
Research Remains the Community’s Highest Priority
The survey revealed overwhelming support for continued scientific research aimed at developing new therapies.
Approximately 85 percent of respondents identified the development of improved treatments as a top research priority.
Additionally, nearly six out of ten participants expressed interest in receiving more information about clinical trials, emerging therapies, and ongoing scientific advances.
These responses demonstrate that patients are eager to participate in the research process and remain informed about innovations that could eventually improve disease management.
Peer Support Program Provides New Community Resource
In response to the survey findings, FIRST has launched its Peer Support Navigator Program, an initiative designed to connect individuals and families affected by ichthyosis with trained volunteers who have firsthand experience living with the condition.
The program focuses on providing emotional encouragement, practical guidance, and connections to available FIRST resources.
Peer Support Navigators do not offer medical advice, diagnoses, or treatment recommendations. Instead, they serve as experienced community members who understand many of the daily challenges associated with ichthyosis and can help individuals feel supported throughout their journey.
Boynton emphasized that no one living with ichthyosis should have to face the condition alone.
He said the new program aims to reduce isolation by helping patients and caregivers connect with others who understand their experiences while directing them toward reliable educational and support resources.
Advancing Research Through a Strategic Plan
The survey findings are also helping guide FIRST’s long-term research strategy.
Christopher Bunick, MD, PhD, Associate Professor of Dermatology at Yale School of Medicine and a member of FIRST’s Board of Directors and Medical and Scientific Advisory Board, said future progress will depend on gaining a deeper understanding of the inflammatory, genetic, molecular, and biological mechanisms underlying ichthyosis.
He noted that meaningful advances in therapy development will require stronger collaboration among researchers, clinicians, biotechnology companies, pharmaceutical organizations, government agencies, and patients.
To support these efforts, FIRST has established a Strategic Research Plan centered on four major priorities.
The organization aims to accelerate scientific discovery by addressing knowledge gaps and supporting innovation across basic, translational, and clinical research. It also seeks to strengthen collaboration among patients, physicians, researchers, industry partners, and government agencies to better align research priorities.
Another key objective is ensuring that patient and caregiver experiences directly influence research agendas, advocacy initiatives, clinical trial design, and healthcare policy decisions. Finally, FIRST intends to further establish itself as a trusted source of research information, patient education, clinical trial awareness, and community support.
Patient Voices Will Help Shape the Future
Sean McTernan, Chair of the FIRST Board of Directors and the father of a child affected by ichthyosis, said the survey reinforces the importance of listening directly to patients and families when determining organizational priorities.
He explained that the findings provide both an opportunity and a responsibility to strengthen support services immediately while using patient insights to inform future research initiatives and clinical trial planning.
As scientists continue searching for more effective therapies, FIRST believes the experiences shared through the Patient Voice Survey will serve as an essential foundation for advancing patient-centered research, improving care, and advocating for treatments that more accurately address the real-world burden of living with ichthyosis.
About the Patient Voice Survey
The online survey was conducted in 2025 to better understand the burden of disease and lived experience of people affected by ichthyosis, including the challenges patients and families face in understanding, managing, and seeking support for these lifelong conditions. The survey received 177 responses from people living with ichthyosis and parents or guardians of children with the condition.
Additional information about the Patient Voice survey can be found here .
To learn more about FIRST’s Peer Support Navigator Program, click here .
About FIRST
The Foundation for Ichthyosis & Related Skin Types, Inc. (FIRST) is the leading patient advocacy organization dedicated to improving lives and seeking cures for those affected by ichthyosis and related skin disorders. FIRST provides information, education, advocacy, peer support, and research leadership for individuals and families affected by these rare conditions.
