Defining the complex needs of families with rare diseases-the example of telomere biology disorders

Catherine Wilsnack; Camella J Rising; Emily E Pearce; Rowan Forbes Shepherd; Ashley S Thompson; Alina Majid; Allison Werner-Lin; Sharon A Savage; Sadie P Hutson

doi:10.1038/s41431-024-01697-6

Defining the complex needs of families with rare diseases-the example of telomere biology disorders

Eur J Hum Genet. 2024 Oct 1. doi: 10.1038/s41431-024-01697-6. Online ahead of print.

Affiliations

¹ Steve Hicks School of Social Work, University of Texas at Austin, Austin, TX, USA.
² Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD, USA.
³ Health Care Delivery Research Program, Office of the Associate Director, Division of Cancer Control and Population Sciences, National Cancer Institute, Rockville, MD, USA.
⁴ School of Social Policy and Practice, University of Pennsylvania, Philadelphia, PA, USA.
⁵ Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD, USA. savagesh@mail.nih.gov.

^# Contributed equally.

PMID: 39354183
DOI: 10.1038/s41431-024-01697-6

Abstract

Families with rare diseases, such as telomere biology disorders (TBDs), may have extensive unmet needs given the heterogeneity, chronicity, and potential severity of illness. TBDs are rare inherited syndromes associated with high risk of bone marrow failure, cancer, pulmonary fibrosis, and other severe, chronic complications. To identify gaps in clinical care, we aimed to ascertain the perceived unmet needs of adults and family caregivers, current or bereaved, of individuals with TBDs. Participants were aged ≥18 years with a self-reported TBD diagnosis and/or ever caregivers to one or more family members with a TBD. Participants completed an online survey (N = 35) and/or an audio-recorded telephone interview (N = 32). We calculated descriptive statistics in SPSS and thematically analyzed interview transcripts. Quantitative and qualitative data were analyzed concurrently. Most participants were aged ≥35 years, female, highly educated, and medically insured. Survey respondents reported numerous unmet needs in psychosocial, medical, financial, and daily activity domains. In interviews, participant descriptions validated and contextualized the salience of these unmet needs. Both qualitative and quantitative data identified critical shortfalls in addressing chronic family distress and specialty care coordination. Adults and caregivers of individuals with TBDs have a high risk of adverse psychosocial sequelae given extensive unmet needs. These findings provide a foundation for understanding the range and extent of gaps in care for families with rare diseases, especially TBDs but that are likely applicable to others. Tailored multi-disciplinary interventions involving patients, families, clinicians, researchers, and patient advocacy communities are required to appropriately address care needs for all rare diseases.