The Children's Tumor Foundation
09/30/2026 | Press release | Distributed by Public on 09/30/2026 10:04
When Research Meets Lived Experience: A Young Person’s Perspective on NF2-SWN
As a high school student working with Frank Buono, PhD, a research scientist at Yale School of Medicine, Shruti Shah has spent the past year learning about research while also bringing a perspective that can't be found in the scientific literature alone: her own experience living with NF2-related schwannomatosis (NF2-SWN).
Working with members of the research team, Shruti developed the following perspective piece exploring quality of life in NF2-SWN - not only through published research, but through the realities of navigating hearing and vision changes, mobility, identity, relationships and uncertainty about the future as a young person with NF.
Her perspective also points to an important gap. Much of the existing research on quality of life in NF2-SWN focuses on adults, leaving questions about how NF intersects with adolescence - a period already shaped by changes in identity, independence and plans for the future.
By bringing research and lived experience together, Shruti asks us to think more broadly about what quality of life means, how we measure it, and what we may miss when patients' own experiences aren't part of the picture.
Below, we share Shruti's perspective in her own words.
As a student-researcher-advocate living with NF2-related schwannomatosis (NF2-SWN), I have come to see that quality of life cannot be understood through symptoms alone. My experience shows how psychosocial wellbeing, communication, mobility, identity, and access are intertwined, especially when people do not recognize how daily functioning changes over time.
Individuals living with neurofibromatosis type 2 (NF2), or NF2-SWN, often describe a daily reality that extends far beyond what clinical scores can capture. Their experiences are not defined solely by symptoms or numbers, but by how the condition shapes their identity, relationships, and sense of normalcy over time (Patel et al., 2011; Freier et al., 2024). Qualitative work with NF2 samples highlights disruptions in everyday activities, communication, and social participation, with participants explaining that "everything takes more effort" and that they often avoid social situations because hearing loss and balance problems make group interactions exhausting or embarrassing (e.g., semi-structured interview studies in small NF2 clinic samples; Patel et al., 2011).
I recognize this not only as a clinical pattern, but as a lived reality: because I have horizontal strabismus in my right eye and partial hearing loss in my right ear, I have to consciously position myself in relation to others, and larger social gatherings often become more awkward and tiring than they appear from the outside. These personal accounts echo findings showing that NF2-SWN is associated with substantial impairments in physical, social, and emotional domains of health-related quality of life (HRQoL), while also illustrating how patients experience stability or decline in ways that standard instruments cannot fully capture.
For many with NF2, quality of life is measured not only by physical health, but by whether they still recognize themselves in their everyday roles. Patients often express a desire to remain "the same person" within their families, workplaces, and communities, even as their abilities change. Surveys indicate that adults with NF2 report significantly worse HRQoL than the general population, particularly in social functioning, general health, and emotional well-being. Qualitative studies suggest that these declines are closely tied to progressive hearing loss, balance difficulties, and facial weakness. This disruption is constant in my own life after spinal cord surgery left me with ulnar nerve damage and muscle atrophy; I distanced myself from my identity as a dancer as I could not dance as well as I used to. Patients similarly describe stepping away from meaningful leisure activities-such as group sports, travel, or music-when hearing loss, imbalance, or visual changes make participation unsafe, inaccessible, or no longer enjoyable. Study participants likewise describe that "everything takes more effort," emphasizing the constant mental and physical energy required to communicate, move through the world, and manage daily activities as sensory and motor impairments accumulate (Cosetti et al., 2015, Patel et al., 2011; Freier et al., 2024).
As these challenges progress, many adults with NF2 describe their difficulties not simply as a collection of symptoms, but as a gradual loss of the ability to continue the work and activities that once gave their lives meaning. Interview and survey data indicate that repeated surgeries, fluctuating neurological status, and chronic fatigue interfere with work attendance, productivity, and career progression, with some individuals leaving the workforce earlier than they had expected (Cosetti et al., 2015; Hamoy-Jimenez et al., 2020). As a young person yet to enter the workforce and hoping to enter the medical field in the future, NF2-SWN makes the path ahead feel less predictable than it does for many of my peers.
A person stands next to a display board titled "Youth Advocacy in Action" at an indoor event, with a cityscape visible through large windows in the background.I cannot assume that my abilities required for medical training, hopefully in the radiology specialty, and long-term practice will remain unchanged, and that reality has forced me to think about career planning with both ambition and flexibility. As someone who hopes to become a neuroradiologist or nuclear radiologist, I have had to consider how hearing loss, vision changes, and possible future procedures could affect patient communication, daily functioning, and the pace of work in a demanding specialty. At the same time, nerve damage and atrophy in my left hand from a spinal cord procedure have already made me more aware of the value of an outpatient setting, flexible scheduling, and a backup path such as pharmacy if my physical limitations become more restrictive. Rather than diminishing my goals, NF2 has made me more committed to becoming a clinician who advocates for accessibility and brings both medical expertise and lived experience to the care of patients like me.
The emotional impact of these experiences is often shaped by chronic uncertainty, anticipatory anxiety, and an ongoing sense of grief for the person they once were. For me, that uncertainty is not only about what symptoms may come next, but about the possibility that future surgeries or side effects could change what I am able to do in everyday life, leaving me feeling like a different version of myself. Interview studies describe reactions of shock and fear at diagnosis, followed by persistent worry about "what will go next" as individuals face the possibility of further hearing loss, facial weakness, or new tumors. These fears often intensify around imaging appointments, clinical trial enrollment, or major treatment decisions, and they help explain why qualitative research matters so deeply: interviews and open-ended patient perspectives can capture the anxiety, loss, and adaptation that standardized quality-of-life scales often miss, while also clarifying the patterns seen in quantitative studies. However, patients' narratives add important depth by describing grief over changing identities, guilt about burdening loved ones, and the emotional conflict of potentially "trading" physical and mental health when making high-stakes treatment decisions (Quarmby et al., 2019; Lester et al., 2023; Freier et al., 2024). That is why it is so important for clinicians and researchers to treat patient voices as equally valuable to survey data, and to use both forms of evidence to guide more validating, informed, and patient-centered care.
Limitations in Methodology and Literature
A key limitation of much of the existing qualitative literature is that much of the evidence base relies on small, clinic-based qualitative samples, which strengthens depth of insight but limits generalizability across the broader NF2 and NF2-related schwannomatosis population . In addition, several studies draw on participants who are already engaged in specialty care or research, meaning that the voices of individuals with more severe disability, limited access to care, or less willingness to participate may be underrepresented.
As an adolescent myself, I also think existing research does not yet fully capture how teenage developmental change may interact with HRQoL in NF2-SWN, especially during puberty, school transitions, and identity formation. That gap means that the relationship between hormonal change, social development, and symptom burden may be different from what adult-focused studies suggest.
A further limitation is that the available literature often separates physical symptoms, emotional distress, and social functioning, even though patients consistently describe these domains as intertwined in everyday life. This makes it difficult for standard HRQoL measures to fully capture the broader lived experience of NF2, including identity disruption, role loss, and the cumulative burden of uncertainty over time. Studies in related NF1 populations also suggest that patient-reported outcomes may miss aspects of need fulfillment and social participation that are central to patients' own accounts, reinforcing the need for more person-centered approaches in future work (Heaney et al., 2019; Hummelvoll et al., 2013).
Taken together, both the literature and my lived experience make clear that NF2-SWN cannot be understood through symptoms alone, but through the evolving ways it reshapes identity, relationships, and opportunity. Moving forward, research must center patient voices by incorporating longitudinal, patient-reported, and developmentally sensitive measures that reflect real-world functioning and meaning. For me, that vision is about more than better data; it is about ensuring that future care recognizes the full complexity of living with NF2, including what we lose, what we adapt, and what we continue to value. Only then can research truly support patients in building lives that feel whole, even in the presence of uncertainty.
References:
Liu, Shijie et al. "Effects of Acute and Chronic Exercises on Executive Function in Children and Adolescents: A Systemic Review and Meta-Analysis." Frontiers in psychology vol. 11 554915. 17 Dec. 2020, doi:10.3389/fpsyg.2020.554915
Heaney, A., Wilburn, J., Langmead, S., Blakeley, J., Huson, S., Jim, C., & McKenna, S. P. (2019). A qualitative study of the impact of plexiform neurofibromas on need fulfillment in adults with neurofibromatosis type 1. SAGE open medicine, 7, 2050312119829680. https://doi.org/10.1177/2050312119829680
Hummelvoll, G. and Antonsen, K.M. (2013), Young Adults' Experience of Living with Neurofibromatosis Type 1. J Genet Counsel, 22: 188-199. https://doi.org/10.1007/s10897-012-9527-5
Patel, C. M., Ferner, R., & Grunfeld, E. A. (2011). A qualitative study of the impact of living with neurofibromatosis type 2. Psychology, health & medicine, 16(1), 19-28. https://doi.org/10.1080/13548506.2010.516363
Wolters, P. L., Ghriwati, N. A., Baker, M., Martin, S., Berg, D., Erickson, G., Franklin, B., Merker, V. L., Oberlander, B., Reeve, S., Rohl, C., Rosser, T., & Vranceanu, A. M. (2024). Perspectives of adults with neurofibromatosis regarding the design of psychosocial trials: Results from an anonymous online survey. Clinical trials (London, England), 21(1), 73-84. https://doi.org/10.1177/17407745231209224
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