What is it like to care for someone with a rare disease? No one can explain it better than families and caregivers themselves. To help drive research in the areas that matter most, investigators from the Rare Diseases Clinical Research Network asked families and caregivers to share their experiences.
Three recent publications highlight their findings—"Osteogenesis imperfecta and the family: A qualitative analysis of the experiences of family and caregivers” from the Brittle Bone Disorders Consortium (BBDC), “Experiences and Hope in Caregivers of Children With Aicardi Goutières Syndrome” from the Global Leukodystrophy Initiative Clinical Trials Network (GLIA-CTN), and “Impact of CLN3 Disease on Child Quality of Life and Family Function” from the Lysosomal Disease Network (LDN).
Here, study authors share more about what they’ve learned from families and caregivers.
Why is it important to study the experiences of rare disease families and caregivers?
Eric Alan Storch, PhD (BBDC): Rare disease diagnoses, like osteogenesis imperfecta (OI), are not simply health conditions but rather diseases which can have a significant influence on the daily life for caregivers and family members as well as impact family functioning and wellbeing.
Francesco Gavazzi, MD, PhD (GLIA-CTN): Studying the experiences of families living with rare diseases like Aicardi-Goutières syndrome (AGS) is crucial because the impact goes far beyond medical symptoms. AGS affects nearly every aspect of daily life (emotional, social, and financial), and these challenges are rarely measured in traditional research. By listening directly to caregivers, we learn which aspects of health and quality of life matter most to them, such as comfort, independence, or communication. This knowledge ensures that clinical care and research, including future trials, focus on what families actually value. In this way, caregiver experiences become the foundation for truly patient-centered care and more meaningful treatment outcomes.
Jennifer A. Vermilion, MD (LDN): Particularly in rare diseases, the patients and their families are experts in their disease and their experiences. Because of this, it is important that we not assume what the experience is but rather directly ask about it. This will help us to support patients and their families. In addition to clinical importance, this information is also helpful for research purposes. For example, when we design clinical trials, we want to make sure that we are measuring the impact of an intervention on something that matters to the patient and their loved ones. If we show that an intervention only improves a symptom that does not really bother the patient or loved one, then the impact may not be meaningful.
Did anything surprise you about your findings?
Dr. Storch: Our findings were actually quite consistent with our own expectations and what we were hearing from those with lived experience when we designed the study, as well as other qualitative studies in the rare disease literature. This includes the several studies in the OI literature that have examined family experiences associated with OI. Our study indicated that OI impacts not only the diagnosed individual but the whole family in various domains (e.g., day-to-day life, relationships, how to support the person with OI, caregiver wellbeing).
Dr. Gavazzi: Yes, two things stood out. First, caregivers often prioritized comfort, communication, and emotional well-being over the areas most affected, such as motor skills and daily functioning. This shows how families shift their focus over time, emphasizing what most improves daily life rather than what is most impacted. Second, stress related to motor impairment was universal, even in children with milder disease, and many families described a gap between receptive and expressive language. This suggests children may understand more than they can express. These findings are supported by other studies demonstrating successful use of non-verbal assessments in this population.
Dr. Vermilion: We were surprised by the family impact results. For patients, we found that quality of life tended to worsen over time as CLN3 disease progressed, which we anticipated. For families, however, the impact did not worsen over time but stayed fairly similar throughout the disease stages. This suggests a couple of things to me. For one, even when the disease is in an early stage, it has a profound impact on the family. Thus, we need to be cognizant of this as we approach management and support of families at all stages of the disease. On the other hand, families are resilient and, despite disease progression in their loved one, their ability to function as a family remains steady. I think this speaks to the incredible strength of the families and this community.
What is important for clinicians to know about family and caregiver experiences?
Dr. Storch: Clinicians should consider several things. First, clinicians should note that caregivers reported experiences of stress and anxiety, particularly concerning fracture prevention and fear of recurrence. Second, a meaningful number of caregivers had unnecessary interactions with Child Protective Services/Child and Family Services during diagnosis which were distressing and stigmatizing. Finally, caregivers of someone with OI (and those with OI) are incredibly resilient and strong advocates for their families.
Dr. Gavazzi: Clinicians should understand that AGS impacts the whole family, not just the child. The early onset of symptoms creates enormous stress. Over time, caregivers face emotional strain, financial challenges, and even changes in employment. Families often describe feelings of guilt, fatigue, or tension in relationships. Importantly, even small improvements, like a child being able to move an arm or communicate pain, are seen as life changing. Clinicians should pay close attention to caregiver well-being and work with families to set goals that reflect what truly improves quality of life.
Dr. Vermilion: It is important to know that family and caregiver experiences are critical for clinicians to understand to be able to provide optimal care to patients. When we ask about a patient’s symptoms and the impact on their individual function, we must also explore the impact on the caregiver’s quality of life and the family unit.
How can your research impact patient care?
Dr. Storch: There are several implications. Perhaps most importantly, we hope that these findings may lead to the development of additional supports and interventions to address the psychosocial well-being of families of a loved one with OI. One promising intervention where innovative work by Dr. Marie-Eve Robinson is taking place included mindful self-compassion. Additionally, we hope that these findings can educate clinicians about the role of OI in the family, including the resiliency of the family system.
Dr. Gavazzi: These findings can reshape care by highlighting the areas that matter most to families. Quality of life surveys proved feasible in AGS and can help guide care around comfort, communication, and independence, not just medical management. The study also underscores the importance of supporting caregivers, who often experience high stress and social isolation. For clinical trials, the health concepts identified by families provide a clear path to selecting outcomes that reflect meaningful improvements. This alignment between family priorities and care strategies can improve both treatment effectiveness and the overall well-being of families.
Dr. Vermilion: I hope that this research helps clinicians recognize the areas of patient, caregiver, and family quality of life that can be impacted by rare diseases like CLN3 disease. This can help guide not only what kind of information that we collect at clinical visits but also how we approach management.
What are the next steps for future research?
Dr. Storch: There is always more work to be done. There are several areas that we would like to highlight. First, we would like to study how to get information about psychosocial stressors out to clinicians who see patients with OI, especially those who are not OI “experts.” Second, we would like to examine various approaches to supporting families and individuals with OI, particularly around psychosocial functioning like anxiety and pain. Third, we seek to capture the voices of varied samples—both in terms of ethnoracial representation and family structures—to build on the current understanding of the relationship between OI and family well-being. In line with this direction, we are currently preparing a cross-sectional study examining caregiver strain among caregivers of children with OI to identify characteristics associated with strain, aiming to inform interventions for psychosocial well-being of families affected by OI.
Dr. Gavazzi: The next steps involve developing and validating tools that better capture the unique challenges of AGS. Larger and longer-term studies are needed to see how family priorities shift as the disease progresses. Improving ways to measure receptive language and cognitive abilities will also be key, since many children understand more than they can express. Research should also focus on reducing the burden of surveys and involving caregivers in designing tools to capture genuine patient-centric perspectives. Together, these efforts will help create outcome measures that are not only scientifically rigorous but also meaningful to families living with AGS.
Dr. Vermilion: The next steps will involve taking this information to design future studies that explore which symptoms matter most to patients and families. We want to use this information to improve how we assess and quantify symptoms in a meaningful way.
The Rare Diseases Clinical Research Network (RDCRN) is funded by the National Institutes of Health (NIH) and led by the National Center for Advancing Translational Sciences (NCATS) through its Division of Rare Diseases Research Innovation (DRDRI). Now in its fifth five-year funding cycle, RDCRN is a partnership with funding and programmatic support provided by Institutes, Centers, and Offices across NIH, including the National Institute of Neurological Disorders and Stroke, the National Institute of Allergy and Infectious Diseases, the National Institute of Diabetes and Digestive and Kidney Diseases, the Eunice Kennedy Shriver National Institute of Child Health and Human Development, the National Institute of Arthritis and Musculoskeletal and Skin Diseases, the National Heart, Lung, and Blood Institute, the National Institute of Dental and Craniofacial Research, the National Institute of Mental Health, and the Office of Dietary Supplements.
