Ryan Brown-Ezell, MS (she/her); Ashley Cannon, PhD, MS, CGC (she/her) ; R. Lynn Holt, MS, CGC (she/her)
The article below reflects the personal opinions of the author(s) and does not reflect the views or opinions of the Perspectives editors or committee, or the National Society of Genetic Counselors (NSGC).
Disclosing a genetic diagnosis to a child is challenging for parents and caregivers. They report the process to be “daunting,” “distressing” and “anxiety-producing” (Franchi et al., 2023; Metcalfe et al., 2008; Plumridge et al., 2010). These feelings, combined with the fact that many caregivers feel unsupported and unsure of the genetic condition themselves, reveal a need for family-friendly resources for the disclosure of genetic conditions.
Bibliotherapy, or the therapeutic use of books and stories to help someone understand, cope with and learn from a situation or problem, has proven to be effective when supporting children through challenging times such as transition and loss (Heath et al., 2005; Mehdizadeh & Khosravi, 2019). Books allow children to detach from stressful or complex events and take a safe, third-party, problem-solving perspective (Mendel et al., 2016). The benefit of the technique to explain familial and self-illness has made great strides in the medical field and in pediatric genetic counseling sessions (Mehdizadeh & Khosravi, 2019; Schlub et al., 2021).
The experiences of families of children with NF1 were explored in a study by Franchi et al. in which caregivers were asked about their perspective on disclosing an NF1 diagnosis to their child(ren). “I just felt that I did not want to give her one more thing to feel different about… because she has told me before that she felt different than her friends.” This quote from the mother of an 11-year-old child with NF1 captures the common feelings caregivers have about disclosing their child’s diagnosis. Caregivers who chose not to disclose at the time of the study also expressed a need for resources to support the disclosure of NF1. (Franchi et al., 2023).
A University of Alabama at Birmingham (UAB) genetic counseling student, Ryan Brown-Ezell, MS, partnered with genetic counselors, a genetics bibliotherapy expert, the Children’s Tumor Foundation (CTF), a child psychologist, caregivers of individuals with NF1 and an illustrator to turn the unmet need for a resource to facilitate disclosing a child’s diagnosis with NF1 into a reality. Paired caregiver and child resources were created to better meet the needs of both groups.
Super Emerson
The children’s book “Super Emerson” was created to support the NF1 disclosure process from a child’s perspective. The main character, Emerson, is diagnosed with NF1 and has visible neurofibroma along with cafe-au-lait spots. They are gender and race-ambiguous to appeal to the largest audience. The book follows Emerson as they educate the reader about NF1, talk to a peer about the features of NF1, explain struggles in school, discuss communicating with adults, go to the doctor, teach how to regulate anxiety, explain commonalities with unaffected friends and highlight their superpowers. Even though the book is written to target the average disclosure age of six, there are callouts targeted to older children and adolescents with more in-depth information. Interactive activities are sprinkled throughout so readers can customize the book to their child.
Caregiver Guide: Telling Your Child About NF1
The creation of a caregiver resource for a pediatric disclosure of NF1 was also inspired by caregiver input from Franchi et al. The resource walks caregivers through reasons to disclose, how to prepare, various approaches, potential responses and developmental considerations. Age groupings were based on Jean Piaget’s cognitive development stages and supplemented with a compilation of specific age group beliefs about illness, heredity and ability for understanding (Piaget, 1951; Piaget 1954, Shlub et al., 2021).
Resource Access
The resources were created with accessibility in mind. Both resources will be translated into multiple languages. Additionally, all designs are printer and black-and-white friendly for them to be quickly printed and used in a clinic setting. The book and the caregiver guide are free from the CTF and can be found on the CTF website.
Additional Children’s Resources for Other Genetic Conditions
Children’s books about genetic conditions can be used in the disclosure and education process about a condition, even if the books were not specifically developed for this purpose. An additional review was conducted to identify children’s books about genetic conditions. Books were collected via Google, Amazon and PubMed searches with search term creation assistance from an expert librarian. Additionally, books were contributed by genetic counselors. 491 books were collected for review. Books were reviewed independently by two investigators and were only included if they 1) explained or disclosed a genetic condition, (2) targeted children ages 0-17, (3) were written in English, (4) were published in 2013 or later and (5) meet the set definition of “book.” Ties were broken by a third investigator. 96 books met inclusion criteria spanning 53 conditions. A repository of these resources that includes the book title, genetic condition, reading level, publication information and book access information is accessible via UAB.
The repository is organized alphabetically by condition for search ease. We hope the repository can be updated frequently to provide the most accurate resources.
References
Franchi, M., Radtke, H. B., Lewis, A. M., Moss, I., Cofield, S. S., & Cannon, A. (2023). Parent perspectives on disclosing a pediatric neurofibromatosis type 1 diagnosis. Journal of genetic counseling. https://doi.org/10.1002/jgc4.1719
Heath, M. A., Sheen, D., Leavy, D., Young, E., & Money, K. (2005). Bibliotherapy: A Resource to Facilitate Emotional Healing and Growth. School psychology international, 26(5), 563-580. https://doi.org/10.1177/0143034305060792
Mehdizadeh, M., & Khosravi, Z. (2019). An inquiry into the effectiveness of bibliotherapy for children with intellectual disabilities. International journal of developmental disabilities, 65(4), 285-292. https://doi.org/10.1080/20473869.2018.1466509
Mendel, M. R. M. D. M. S., Harris, J. M. D., & Carson, N. M. D. F. (2016). Bringing Bibliotherapy for Children to Clinical Practice. Journal of the American Academy of Child and Adolescent Psychiatry, 55(7), 535-537.
Metcalfe, A., Coad, J., Plumridge, G. M., Gill, P., & Farndon, P. (2008). Family communication between children and their parents about inherited genetic conditions: a meta-synthesis of the research. European journal of human genetics: EJHG, 16(10), 1193-1200. https://doi.org/10.1038/ejhg.2008.84
Piaget, J. (1951). The child's conception of physical causality. Rontledge and Legan Paul.
Piaget, J. (1954). The construction of reality in the child. Basic Books.
Plumridge, G., Metcalfe, A., Coad, J., & Gill, P. (2010). Family communication about genetic risk information: Particular issues for Duchenne muscular dystrophy. American journal of medical genetics. Part A, 152A(5), 1225-1232. https://doi.org/10.1002/ajmg.a.33364
Schlub, G. M., Crook, A., Barlow‐Stewart, K., Fleming, J., Kirk, J., Tucker, K., & Greening, S. (2021). Helping young children understand inherited cancer predisposition syndromes using bibliotherapy. Journal of genetic counseling, 30(4), 1119-1132. https://doi.org/10.1002/jgc4.1396
Acknowledgements
“Super Emerson and the Caregiver Guide: Telling Your Child about NF1” would not have been possible without the UAB committee: Ryan Brown-Ezell, MS, GC, Ashley Cannon, PhD, MS, CGC, Madeleine Franchi, MS, LCGC, Heather Radtke, MS, CGC, and Georgina Schlub, FHGSA, PhD.
The children’s book and the caregiver guide were created with the generous support of the Children’s Tumor Foundation and the CTF team: Jennifer Janusz, PsyD, ABPP-Cn, Susanne Preinfalk, Vanessa Younger, and patient representatives Stacey DeCillis, Jackson DeCillis and Connie Sorman.
Repository creation would not have been possible without Ryan Brown-Ezell, MS, GC, R. Lynn Holt MS, CGC, Ashley Cannon, PhD, MS, CGC, and Megan Bell.
Special thank you to the parents and caregivers who contributed their experiences and time.
Ryan Brown-Ezell, MS (she/her) is a 2024 graduate of the University of Alabama at Birmingham Genetic Counseling Program. She is passionate about empowering patients through providing age-appropriate education and resources about genetic conditions. The creation of resources, compilation of available children’s books and publication of this article are all part of her graduate research project. Brown-Ezell could not have done this without her committee members: Ashley Cannon, MS, CGC, PhD, Madeleine Franchi, MS, CGC, R. Lynn Holt, MS, CGC, Heather Radtke, MS, CGC, and Georgina Schlub, FHGSA, PhD.
Ashley Cannon, PhD, MS, CGC (she/her) is a clinical program manager at InformedDNA and the research project coordinator for UAB’s Genetic Counseling Program. Cannon previously worked as a genetic counselor in the Neurofibromatosis Clinic at UAB, coordinated NF1 clinical trials and performed research focused on cutaneous neurofibromas.
R. Lynn Holt, MS, CGC (she/her) is the program director of the University of Alabama Genetic Counseling Graduate Program. Her clinical experience includes prenatal, pediatric and cancer genetic counseling.