"It Made Me Feel Like a Person Again": Benefits of Meals on Wheels-Based Social Connection Programs.

Social isolation and loneliness are associated with negative health outcomes, and these outcomes are exacerbated among older adults who are homebound. To address this issue, Meals on Wheels programs increasingly provide social connection services to clients in addition to home-delivered meals. This descriptive qualitative study examines the impact of three types of social connection programs on the well-being of homebound older adult clients, as well as on the volunteers and staff members who deliver the programs. Thematic analysis of semi-structured interviews conducted with 117 clients, volunteers, and staff in six Meals on Wheels social connection programs across the United States indicated that program participation was associated with substantial benefits. Benefits included the development of supportive friendships, reduced feelings of loneliness, and an improved overall sense of well-being. Insights from this study may inform the development, expansion, and sustainability of social connection programs provided by community-based organizations.

Rethinking Infection Control: Nursing Home Administrator Experiences during the COVID-19 Pandemic.

OBJECTIVE: To examine nursing home administrator perspectives of infection control practices in nursing homes at the height of the COVID-19 pandemic and characterize lessons learned. DESIGN: Descriptive qualitative study. SETTING AND PARTICIPANTS: Administrators from 40 nursing homes across 8 diverse health care markets in the United States. METHODS: Semistructured interviews were conducted via telephone or Zoom with nursing home administrators. Interviews were repeated at 3-month intervals, for a total of 4 interviews per participant between July 2020 and December 2021 (n = 156). Qualitative analysis of interview transcripts used modified grounded theory and thematic analysis to identify overarching themes. RESULTS: Three major themes emerged reflecting administrator experiences managing infection control practices and nursing home operations at the height of the COVID-19 pandemic. First, administrators reported that the more stringent infection control protocols implemented to manage and mitigate COVID-19 at their facilities increased awareness and understanding of the importance of infection control; second, administrators reported incorporating higher standards of infection control practices into facility-level policies, emergency preparedness plans, and staff training; and third, administrators said they and their executive leadership were reevaluating and upgrading their facilities' physical structures and operational processes for better infection control infrastructure in preparation for future pandemics or other public health crises. CONCLUSIONS AND IMPLICATIONS: Insights from this study's findings suggest important next steps for restructuring and improving nursing home infection control protocols and practices in preparation for future pandemics and public health emergencies. Nursing homes need comprehensive, standardized infection control training and upgrading of physical structures to improve ventilation and facilitate isolation practices when needed. Furthermore, nursing home emergency preparedness plans need better integration with local, state, and federal agencies to ensure effective communication, proper resource tracking and allocation, and coordinated, rapid response during future public health crises.

Administrator Perspectives on the Impact of COVID-19 on the Administration of the Patient Driven Payment Model in U.S. Skilled Nursing Facilities.

The Patient Driven Payment Model (PDPM) was implemented in U.S. skilled nursing facilities (SNFs) in October 2019, shortly before COVID-19. This new payment model aimed to reimburse SNFs for patients' nursing needs rather than the previous model which reimbursed based on the volume of therapy received. Through 156 semi-structured interviews with 40 SNF administrators from July 2020 to December 2021, this qualitative study clarifies the impact of COVID-19 on the administration of PDPM at SNFs. Interview data were analyzed using modified grounded theory and thematic analysis. Our findings show that SNF administrators shifted focus from management of the PDPM to COVID-19-related delivery of care adaptations, staff shortfalls, and decreased admissions. As the pandemic abated, administrators re-focused their attention to PDPM. Policy makers should consider the continued impacts of the pandemic at SNFs, particularly on delivery of care, admissions, and staffing, on the ability of SNF administrators to administer a new payment model.

Implementing the Patient Driven Payment Model-Perspectives from Skilled Nursing Facility Administrators.

Objective: To explore skilled nursing facility (SNF) administrator retrospective perspectives on their preparation for and initial implementation of the Patient Driven Payment Model (PDPM), the new Medicare payment system for SNFs enacted on October 1, 2019. Methods: 156 interviews at 40 SNFs in eight U.S. markets were conducted and qualitatively analyzed. Results: Administrators retrospectively expressed feeling well-prepared for the PDPM implementation. Advance preparation focused on training staff regarding patient assessment and documentation. Administrators also recognized increased incentives for admitting patients with more complex needs and prepared accordingly. Therapy staffing reductions were concentrated in contract employees, while SNF-employed therapists were less affected. Conclusion: Policy makers and industry experts should consider the long-term impact of changing financial incentives through payment reform, and ensure that reimbursement best reflects the cost of providing services while prioritizing high-quality care. PDPM's effect on care quality and access to care should continue to be monitored.

Examination of Staffing Shortages at US Nursing Homes During the COVID-19 Pandemic.

Importance: Staffing shortages have been widely reported in US nursing homes during the COVID-19 pandemic, but traditional quantitative research analyses have found mixed evidence of staffing shortfalls. Objective: To examine whether nursing home administrator perspectives can provide context for conflicting aggregate staffing reports in US nursing homes during the COVID-19 pandemic. Design, Setting, and Participants: In a qualitative study, convergent mixed-methods analysis integrating qualitative and quantitative data sets was used. Semistructured qualitative interviews were conducted between July 14, 2020, and December 16, 2021. Publicly available national Payroll Based Journal data were retrieved from January 1, 2020, to September 30, 2022, on 40 US nursing homes in 8 health care markets that varied by region and nursing home use patterns. Staffing and resident measures were derived from Payroll Based Journal data and compared with national trends for 15 436 US nursing homes. Nursing home administrators were recruited for interviews. Of the 40 administrators who consented to participate, 4 were lost to follow-up. Exposure: Four repeated, semistructured qualitative interviews with participants were conducted. Interview questions focused on the changes noted during the COVID-19 pandemic in nursing homes. Main Outcomes and Measures: Thematic description of nursing home administrator compensatory strategies to provide context for quantitative analyses on nursing home staffing levels during the COVID-19 pandemic. Results: A total of 156 interviews were completed with 40 nursing home administrators. Administrators reported experiencing staff shortages during the COVID-19 pandemic and using compensatory strategies, such as overtime, cross-training, staff-to-resident ratio adjustments, use of agency staff, and curtailing admissions, to maintain operations and comply with minimum staffing regulations. Payroll Based Journal data measures graphed from January 1, 2020, to September 30, 2022, supported administrator reports showing that study facilities had reductions in staff hours, increased use of agency staff, and decreased resident census. Findings were similar to national trends. Conclusions and Relevance: In this qualitative, convergent mixed-methods study, nursing home administrators reported the major staffing strain they experienced at their facilities and the strategies they used to offset staffing shortages. Their experiences provide context to quantitative analyses on aggregate nursing home census data. The short-term compensatory measures administrators used to comply with regulations and maintain operations may be detrimental to the long-term stability of this workforce.

"It's Not a Sprint, It's a Marathon": Stages of Managing a Nursing Home Throughout the Pandemic.

OBJECTIVES: To qualitatively examine the impact of COVID-19 on nursing homes over the course of the pandemic from the perspective of nursing home administrators. DESIGN: In-depth, semi-structured interviews with nursing home administrators, repeated 3 months apart for a total of 4 each from July 2020 through December 2021. SETTINGS AND PARTICIPANTS: Administrators from a total of 40 nursing homes from 8 health care markets across the United States. METHODS: Interviews were conducted virtually or via phone. The research team identified overarching themes using applied thematic analysis, and iteratively coded transcribed interviews. RESULTS: Nursing home administrators across the United States reported challenges of managing nursing homes during a pandemic. We found their experiences could generally be categorized into 4 stages, not necessarily coinciding with surge levels of the virus. The initial stage was characterized by fear and confusion. The second stage, by a "new normal," a term administrators used to report feeling better prepared for an outbreak and how residents, staff, and families began to adjust to life with COVID. Administrators started using the phrase "a light at the end of the tunnel" to describe the third stage, characterized by the hope associated with the availability of vaccinations. The fourth stage was marked by "caregiver fatigue" as nursing homes experienced numerous breakthrough cases. Some challenges, like staffing issues and uncertainty about the future, were reported throughout the pandemic, as was a continued mission to keep residents safe. CONCLUSIONS AND IMPLICATIONS: As the ability of nursing homes to provide safe, effective care faces unprecedented and continued challenges, the insights reported here from longitudinal perspectives of nursing home administrators may help policy makers develop solutions to encourage high-quality care. Knowing how the needs for resources and support vary across the progression of these stages has the potential to be helpful in addressing these challenges.

COVID-19 Vaccination Among Skilled Nursing Facility Staff: Challenges and Strategies Identified by Administrators.

COVID-19 vaccinations are critical for mitigating outbreaks and reducing mortality for skilled nursing facility (SNF) residents and staff, yet uptake among SNF staff varies widely and remains suboptimal. Understanding which strategies are successful for promoting staff vaccination, and examining the relationship between vaccination policies and staff retention/turnover is key for identifying best practices. We conducted repeated interviews with SNF administrators at 3-month intervals between July 2020 and December 2021 (n = 156 interviews). We found that COVID-19 vaccines were initially met with both enthusiasm and skepticism by SNF staff. Administrators reported strategies to increase staff vaccine acceptance, including incentives, one-on-one education, and less stringent personal protective equipment requirements. Federal and state vaccination mandates further promoted vaccine uptake. This combination of mandates with prioritization of the vaccine by SNFs and their leadership was successful at increasing staff vaccination acceptance, which may be critical to increase staff booster uptake from its current suboptimal levels.

Perspectives of nursing home administrators across the United States during the COVID-19 pandemic.

OBJECTIVE: To characterize the experiences of nursing home administrators as they manage facilities across the United States during the COVID-19 pandemic. DATA SOURCES AND STUDY SETTING: We conducted 156 interviews, consisting of four repeated interviews with administrators from 40 nursing homes in eight health care markets across the country from July 2020 through December 2021. STUDY DESIGN: We subjected the interview transcripts to a rigorous qualitative analysis to identify overarching themes using a modified grounded theory approach to applied thematic analysis. DATA COLLECTION METHODS: In-depth, semi-structured qualitative interviews were conducted virtually or by phone, and audio-recorded, with participants' consent. Audio recordings were transcribed. PRINCIPAL FINDINGS: Interviews with nursing home administrators revealed a number of important cross-cutting themes. In interviewing each facility's administrator four times over the course of the pandemic, we heard perspectives regarding the stages of the pandemic, and how they varied by the facility and changed over time. We also heard how policies implemented by federal, state, and local governments to respond to COVID-19 were frequently changing, confusing, and conflicting. Administrators described the effect of COVID-19 and efforts to mitigate it on residents, including how restrictions on activities, communal dining, and visitation resulted in cognitive decline, depression, and weight loss. Administrators also discussed the impact of COVID-19 on staff and staffing levels, reporting widespread challenges in keeping facilities staffed as well as strategies used to hire and retain staff. Administrators described concerns for the sustainability of the nursing home industry resulting from the substantial costs and pressures associated with responding to COVID-19, the reductions in revenue, and the negative impact of how nursing homes appeared in the media. CONCLUSIONS: Findings from our research reflect nursing home administrator perspectives regarding challenges operating during COVID-19 and have substantial implications for policy and practice.

Findings From Talking Tech: A Technology Training Pilot Intervention to Reduce Loneliness and Social Isolation Among Homebound Older Adults.

Background and Objectives: Social isolation and loneliness are common among older adults and associated with negative health outcomes including cognitive decline, depression, suicide ideation, and mortality. Information and communication technology interventions are often used to combat loneliness and social isolation; however, homebound older adults face barriers to access. This study reports findings from a novel pilot intervention, called Talking Tech, designed to reduce loneliness and social isolation in homebound older adults by providing one-on-one, in-home technology training, a tablet, and the internet, to promote digital literacy and participation in a virtual senior center. Research Design and Methods: Twenty-one homebound older adults participated in this 14-week, volunteer-delivered program. We used qualitative interviews with participants, volunteers, and program staff, weekly progress reports from volunteers, and quantitative pre- and postintervention surveys with participants to examine experiences and to evaluate the impact of the intervention on loneliness and social isolation. Qualitative data were analyzed using content analysis and pre- and postintervention survey data were compared. Results: Participants reported increased technological literacy and use, increased access to online activities, and improved facilitation of social connections to existing and new networks. Additionally, during interviews, many participants reported that participating in Talking Tech alleviated their loneliness. While not statistically significant, our quantitative analysis revealed trends toward decreased participant feelings of loneliness and increased technology use. Additionally, intervention adoption and retention were high, with only one participant withdrawing from the intervention. Discussion and Implications: This evaluation of the novel Talking Tech pilot intervention provides critical insights into strategies to reduce loneliness and isolation for older adults, with implications for future research, policy, and practice. Findings demonstrate that individualized technology training may be an acceptable way to improve well-being for homebound older adults.

How Medicare Advantage plans use data for supplemental benefits decision-making.

OBJECTIVES: Health care payers are increasingly experimenting with interventions to address social risk factors. With enactment of the 2018 Bipartisan Budget Act, Medicare Advantage (MA) plans have new opportunities to offer supplemental benefits that are not "primarily health-related." This article presents findings from interviews conducted with executives from MA plans regarding plan decision-making processes related to new social risk factor benefits. STUDY DESIGN: Semistructured qualitative interviews with MA plan leadership. METHODS: A total of 63 plan representatives from 29 unique MA plans were interviewed about the rationale for social risk-related interventions and how data are used to inform benefits expansion decisions. This paper combines qualitative interview data from 2 separate studies with similar target groups and interview guides. Interview transcripts were qualitatively analyzed to examine underlying themes. RESULTS: Three main themes emerged: (1) Plans use multiple data sources to determine how to target benefits; (2) evidence gaps hinder decision-making to expand or offer new supplemental benefits; and (3) in the absence of sufficient evidence, some plans have their own research and quality improvement processes to maximize effectiveness. CONCLUSIONS: Findings provide insights about opportunities and challenges that MA plans face in making decisions related to supplemental benefits designed to address members' social risk factors. Barriers include collecting, generating, and analyzing data critical to informing investments. Results highlight the need to ensure interoperability of new and existing data sources, foster shared learning opportunities, and narrow evidence gaps about specific social care interventions to inform the design and implementation of effective supplemental benefits.

Health Care and Community-Based Organization Partnerships to Address Social Needs: Medicare Advantage Plan Representatives' Perspectives.

Payers and providers are increasingly being held accountable for the overall health of their populations and may choose to partner with community-based organizations (CBOs) to address members' social needs. This study examines the opportunities and challenges that health care entities, using Medicare Advantage (MA) plans as an example, encounter when forming these relationships. We conducted interviews with 38 representatives of 17 MA organizations, representing 65% of MA members nationally. Transcripts were qualitatively analyzed to understand overarching themes. Participants described qualities they look for in community partners, including an alignment of organizational missions and evidence of improved outcomes. Participants also described challenges in working with CBOs, including needing an evidence base for CBOs' services and an absence of organizational infrastructure. Results demonstrate areas where CBOs may target their efforts to appeal to payers and providers and reveal a need for health care entities to assist CBOs in acquiring skills necessary for partnerships.

A Technology Training Program to Alleviate Social Isolation and Loneliness Among Homebound Older Adults: A Community Case Study.

Despite substantial evidence of the negative health consequences of social isolation and loneliness and the outsized impact on older adults, evidence on which interventions are most effective in alleviating social isolation and loneliness is inconclusive. Further complicating the translation of evidence into practice is the lack of studies assessing implementation and scalability considerations for socialization programs delivered by community-based organizations (CBOs). Our primary objective was to describe the implementation barriers, facilitators, and lessons learned from an information and communication technology (ICT) training program aimed at reducing social isolation and loneliness for homebound older adults in a home-delivered meals program. Participants received in-home, one-on-one ICT training lessons delivered by volunteers over a 14-week period with the goal of increasing social technology use. To assess implementation facilitators and barriers, 23 interviews were conducted with program staff (n = 2), volunteers (n = 3), and participants (n = 18). Transcripts were analyzed using thematic analysis. Aspects that facilitated implementation included the organization's existing relationship with clientele, an established infrastructure to deliver community-based interventions, alignment of intervention goals with broader organizational aims, and funding to support dedicated program staff. Challenges to implementation included significant program staff time and resources, coordinating data sharing efforts across multiple project partners, participant and volunteer recruitment, and interruptions due to COVID-19. Implications of these facilitators and barriers for scalability of community-based ICT training interventions for older adults are described. Lessons learned include identifying successful participant and volunteer recruitment strategies based on organizational capacity and existing recruitment avenues; using a targeted approach to identify potential participants; incorporating flexibility into intervention design when working with the homebound older adult population; and monitoring the participant-volunteer relationship through volunteer-completed reports to mitigate issues. Findings from this formative evaluation provide insight on strategies CBOs can employ to overcome challenges associated with implementing technology training programs to reduce social isolation and loneliness for older adults, and thus improve overall well-being for homebound older adults. Recommendations can be integrated into program design to facilitate implementation of ICT programs in the community setting.

Connecting policy to licensed assisted living communities, introducing health services regulatory analysis.

OBJECTIVE: To document dementia-relevant state assisted living regulations and their changes over time as they pertain to licensed care settings. DATA SOURCES: For all states, current directories of licensed assisted living communities and state regulations for each year, 2007-2018, were obtained from state agency websites and Nexis Uni, respectively. STUDY DESIGN: We identified multiple types of regulatory classifications for each state and documented the presence or absence of specific dementia care provisions in the regulations for each type by study year. Maps and summary statistics were used to compare results to previous research and document change longitudinally. DATA COLLECTION/EXTRACTION METHODS: We used a policy analysis approach to connect communities listed in directories to applicable regulatory text. Then, we employed policy surveillance and question-based coding to record the presence or absence of specific policies for each classification and study year. PRINCIPAL FINDINGS: Our team empirically documented provisions requiring dementia-specific training for administrators and direct care staff, and cognitive impairment screening for each study year. We found that 23 states added one or more of these requirements for one or more license types, but the states that had these provisions for all types of licensed assisted living declined from four to two. CONCLUSIONS: We identified significant, previously undocumented, within-state policy variation for assisted living licensed settings between 2007 and 2018. Using the regulatory classification instead of the state as the unit of analysis revealed that many policy adoptions were limited to dementia-designated settings. This suggests that people living with dementia in general assisted living are not afforded the same protections. We call our approach health services regulatory analysis and argue that it has the potential to identify gaps in existing policies, an important endeavor for health services research in assisted living and other care settings.

Medicare Advantage plan representatives' perspectives on Pay for Success.

OBJECTIVES: To understand how Medicare Advantage (MA) plan representatives perceive the alternative financing model Pay for Success (PFS) and its potential to address members' social risk factors. STUDY DESIGN: Semistructured qualitative interviews designed to understand plan representatives' priorities regarding addressing nonmedical needs of their members, awareness of and experiences with PFS, and thoughts about implementing PFS as a method to address members' nonmedical needs. METHODS: Interviews with 38 upper-management representatives from 17 MA plans, which represent 65% of MA beneficiaries nationally, were conducted from July to November 2018. Plans varied in geographic coverage, star rating, and enrollment. Transcripts were qualitatively analyzed to understand overarching themes and patterns of responses. RESULTS: MA plan representatives were largely unfamiliar with PFS and were interested in learning more about how it could address members' social needs. When probed about specific requirements of PFS, responses varied: Some reported willingness to share data with project partners and be reviewed by independent evaluators; others expressed their preference to keep data and performance analysis internal to the organization. Although most representatives prioritized innovation, some were more risk averse and preferred to use traditional methods to deliver new services. CONCLUSIONS: MA plan representatives were unfamiliar with PFS, but most expressed interest in it as an alternative model for funding initiatives to address members' social needs. Education of MA representatives about PFS as an alternative payment model for innovative programming is warranted. However, further guidance from CMS is needed to assuage the concerns raised by these representatives.

Perspectives of Medicare Advantage Plan Representatives on Addressing Social Determinants of Health in Response to the CHRONIC Care Act.

Importance: The passage of the Creating High-Quality Results and Outcomes Necessary to Improve Chronic (CHRONIC) Care Act in 2018 allows Medicare Advantage (MA) plans, which enroll more than one-third of Medicare beneficiaries, greater flexibility to address members' social determinants of health (SDOH) through supplemental benefits. Objective: To understand MA plan representatives' perspectives on the importance of addressing members' SDOH and their responses to the passage of the CHRONIC Care Act. Design, Setting, and Participants: This semistructured qualitative interview study conducted via telephone from July 6, 2018, to November 7, 2018, included participants from 17 MA plans that collectively enrolled more than 13 million MA members (>65% of the total MA market). Data analysis was conducted from September 18, 2018, to December 13, 2018. Main Outcomes and Measures: Audio-recorded interviews were transcribed and then analyzed using a modified content analysis approach to identify major themes and subthemes. Results: Thirty-eight participants representing 17 MA plans varying in region, star rating, and size were interviewed. Analysis of interviews revealed 3 key themes. The first theme was that participants increasingly recognize the value of addressing members' SDOH. The second theme was that participants had different perspectives on whether MA plans should directly address SDOH and how to do so. While some reported that they were taking advantage of the increased flexibility provided by the CHRONIC Care Act to design new benefits or partner with community-based organizations, others indicated that it was outside of their purview to directly address members' SDOH. The third theme was that participants described complex decision-making around how to provide supplemental benefits, including a need for evidence, return on investment, strong community partnerships, and guidance from the US Centers for Medicare & Medicaid Services. Conclusions and Relevance: These findings suggest that the changes in MA plans' benefit packages in response to the CHRONIC Care Act and their efforts to address SDOH will vary. Therefore, it is likely that MA enrollees will be differentially affected by the implementation of the CHRONIC Care Act.

Association of Lonafarnib Treatment vs No Treatment With Mortality Rate in Patients With Hutchinson-Gilford Progeria Syndrome.

Importance: Hutchinson-Gilford progeria syndrome (HGPS) is an extremely rare fatal premature aging disease. There is no approved treatment. Objective: To evaluate the association of monotherapy using the protein farnesyltransferase inhibitor lonafarnib with mortality rate in children with HGPS. Design, Setting, and Participants: Cohort study comparing contemporaneous (birth date ≥1991) untreated patients with HGPS matched with treated patients by age, sex, and continent of residency using conditional Cox proportional hazards regression. Treatment cohorts included patients from 2 single-group, single-site clinical trials (ProLon1 [n = 27; completed] and ProLon2 [n = 36; ongoing]). Untreated patients originated from a separate natural history study (n = 103). The cutoff date for patient follow-up was January 1, 2018. Exposure: Treated patients received oral lonafarnib (150 mg/m2) twice daily. Untreated patients received no clinical trial medications. Main Outcomes and Measures: The primary outcome was mortality. The primary analysis compared treated patients from the first lonafarnib trial with matched untreated patients. A secondary analysis compared the combined cohorts from both lonafarnib trials with matched untreated patients. Results: Among untreated and treated patients (n = 258) from 6 continents, 123 (47.7%) were female; 141 (54.7%) had a known genotype, of which 125 (88.7%) were classic (c.1824C>T in LMNA). When identified (n = 73), the primary cause of death was heart failure (79.4%). The median treatment duration was 2.2 years. Median age at start of follow-up was 8.4 (interquartile range [IQR], 4.8-9.5) years in the first trial cohort and 6.5 (IQR, 3.7-9.0) years in the combined cohort. There was 1 death (3.7%) among 27 patients in the first trial group and there were 9 deaths (33.3%) among 27 patients in the matched untreated group. Treatment was associated with a lower mortality rate (hazard ratio, 0.12; 95% CI, 0.01-0.93; P = .04). In the combined cohort, there were 4 deaths (6.3%) among 63 patients in the treated group and 17 deaths (27.0%) among 63 patients in the matched untreated group (hazard ratio, 0.23; 95% CI, 0.06-0.90; P = .04). Conclusions and Relevance: Among patients with HGPS, lonafarnib monotherapy, compared with no treatment, was associated with a lower mortality rate after 2.2 years of follow-up. Study interpretation is limited by its observational design.

A novel somatic mutation achieves partial rescue in a child with Hutchinson-Gilford progeria syndrome.

BACKGROUND: Hutchinson-Gilford progeria syndrome (HGPS) is a fatal sporadic autosomal dominant premature ageing disease caused by single base mutations that optimise a cryptic splice site within exon 11 of the LMNA gene. The resultant disease-causing protein, progerin, acts as a dominant negative. Disease severity relies partly on progerin levels. METHODS AND RESULTS: We report a novel form of somatic mosaicism, where a child possessed two cell populations with different HGPS disease-producing mutations of the same nucleotide-one producing severe HGPS and one mild HGPS. The proband possessed an intermediate phenotype. The mosaicism was initially discovered when Sanger sequencing showed a c.1968+2T>A mutation in blood DNA and a c.1968+2T>C in DNA from cultured fibroblasts. Deep sequencing of DNA from the proband's blood revealed 4.7% c.1968+2T>C mutation, and 41.3% c.1968+2T>A mutation. CONCLUSIONS: We hypothesise that the germline mutation was c.1968+2T>A, but a rescue event occurred during early development, where the somatic mutation from A to C at 1968+2 provided a selective advantage. This type of mosaicism where a partial phenotypic rescue event results from a second but milder disease-causing mutation in the same nucleotide has not been previously characterised for any disease.