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Uncertainties experienced by parents of children diagnosed with severe combined immunodeficiency through newborn screening

European Journal of Human Genetics volume 32, pages 392–398 (2024)Cite this article

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A Comment to this article was published on 21 June 2023

Abstract

Individuals with severe combined immunodeficiency (SCID), a group of rare, genetic conditions, are at risk for life-threatening illnesses unless diagnosed and treated early. Even after early identification through newborn screening, parents of children with SCID embark on a complex journey marked by a variety of informational and emotional support needs. This paper explored the types of uncertainties experienced by parents of a child with SCID diagnosed through newborn screening. We conducted semi-structured interviews with 26 parents to discuss the types of uncertainty experienced, including scientific, practical, personal, and existential. Each interview was recorded, transcribed, and coded. Using deductive and inductive content analysis, we describe the type of uncertainty experienced across each stage of the SCID journey. We found that uncertainties in the SCID journey were chronic and multifaceted. Some uncertainties were more prominent at certain points of the journey whereas others spanned multiple stages. Parents expressed a variety of negative emotional reactions to uncertainty, from anxiety, worry, and fear, to doubt, guilt, or grief, and even anger, frustration, and depression. The results speak to the need for healthcare providers to prepare parents for the SCID journey by providing resources to help manage and cope with uncertainty.

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Deidentified data from this study are available through a data use agreement from the corresponding author on request.

References

  1. Buckley RH. Molecular defects in human severe combined immunodeficiency and approaches to immune reconstitution. Annu Rev Immunol. 2004;22:625–55.

    Article  CAS  PubMed  Google Scholar 

  2. Cirillo E, Giardino G, Gallo V, D’Assante R, Grasso F, Romano R, et al. Severe combined immunodeficiency—an update. Ann N Y Acad Sci. 2015;1356:90–106.

    Article  PubMed  Google Scholar 

  3. Buckley RH, Schiff SE, Schiff RI, Markert ML, Williams LW, Roberts JL, et al. Hematopoietic stem-cell transplantation for the treatment of severe combined immunodeficiency. N. Engl J Med. 1999;340:508–16.

    Article  CAS  PubMed  Google Scholar 

  4. Cavazzana-Calvo M, Lagresle C, Hacein-Bey-Abina S, Fischer A. Gene therapy for severe combined immunodeficiency. Annu Rev Med. 2005;56:585–602.

    Article  CAS  PubMed  Google Scholar 

  5. Kwan A, Abraham RS, Currier R, Brower A, Andruszewski K, Abbott JK, et al. Newborn screening for severe combined immunodeficiency in 11 screening programs in the United States. JAMA. 2014;312:729–38.

    Article  PubMed  PubMed Central  Google Scholar 

  6. Carmichael N, Tsipis J, Windmueller G, Mandel L, Estrella E. “Is it going to hurt?”: The impact of the diagnostic odyssey on children and their families. J Genet Couns. 2015;24:325–35.

    Article  PubMed  Google Scholar 

  7. Grier J, Hirano M, Karaa A, Shepard E, Thompson JL. Diagnostic odyssey of patients with mitochondrial disease: results of a survey. Neurol Genet. 2018;4:e230.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  8. Dillard JA, Carson CL. Uncertainty management following a positive newborn screening for cystic fibrosis. J Health Commun. 2005;10:57–76.

    Article  PubMed  Google Scholar 

  9. Bell M, Biesecker BB, Bodurtha J, Peay HL. Uncertainty, hope, and coping efficacy among mothers of children with Duchenne/Becker muscular dystrophy. Clin Genet. 2019;95:677–83.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  10. Hinton D, Kirk S. Living with uncertainty and hope: a qualitative study exploring parents’ experiences of living with childhood multiple sclerosis. Chronic Illn. 2017;13:88–99.

    Article  PubMed  Google Scholar 

  11. Kerr AM, Haas SM. Parental uncertainty in illness: managing uncertainty surrounding an” orphan” illness. J Pediatr Nurs. 2014;29:393–400.

    Article  PubMed  Google Scholar 

  12. Raspa M, Lynch M, Squiers L, Gwaltney A, Porter K, Peay H, et al. Information and emotional support needs of families whose infant was diagnosed with SCID through newborn screening. Front Immunol. 2020;11:885.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  13. Babrow AS. Uncertainty, value, communication, and problematic integration. J Commun. 2001;51:553–73.

    Article  Google Scholar 

  14. Brashers DE. Communication and uncertainty management. J Commun. 2001;51:477–97.

    Article  Google Scholar 

  15. Mishel MH. The measurement of uncertainty in illness. Nurs Res. 1981;30:258–63.

    Article  CAS  PubMed  Google Scholar 

  16. Mishel MH. Uncertainty in illness. Image: J Nurs Scholarsh. 1988;20:225–32.

    CAS  Google Scholar 

  17. Han PK, Umstead KL, Bernhardt BA, Green RC, Joffe S, Koenig B, et al. A taxonomy of medical uncertainties in clinical genome sequencing. Genet Med. 2017;19:918–25.

    Article  PubMed  PubMed Central  Google Scholar 

  18. Biesecker BB, Klein W, Lewis KL, Fisher TC, Wright MF, Biesecker LG, et al. How do research participants perceive “uncertainty” in genome sequencing? Genet Med. 2014;16:977–80.

    Article  PubMed  PubMed Central  Google Scholar 

  19. Reyes KG, Clark C, Gerhart M, Newson AJ, Ormond KE. “I wish that there was more info”: characterizing the uncertainty experienced by carriers of pathogenic ATM and/or CHEK2 variants. Fam Cancer. 2022;21:143–55.

    Article  PubMed  Google Scholar 

  20. Kutsa O, Andrews SM, Mallonee E, Gwaltney A, Creamer A, Han PK, et al. Parental coping with uncertainties along the severe combined immunodeficiency journey. Orphanet J Rare Dis. 2022;17:390.

    Article  PubMed  PubMed Central  Google Scholar 

  21. Hill CE, Knox S, Thompson BJ, Williams EN, Hess SA, Ladany N. Consensual qualitative research: an update. J Couns Psychol. 2005;52:196.

    Article  Google Scholar 

  22. Viera AJ, Garrett JM. Understanding interobserver agreement: the kappa statistic. Fam Med. 2005;37:360–3.

    PubMed  Google Scholar 

  23. Harris KW, Brelsford KM, Kavanaugh-McHugh A, Clayton EW. Uncertainty of prenatally diagnosed congenital heart disease: a qualitative study. JAMA Netw Open. 2020;3:e204082.

    Article  PubMed  PubMed Central  Google Scholar 

  24. Barben J, Southern KW. Cystic fibrosis screen positive, inconclusive diagnosis. Curr Opin Pulm Med. 2016;22:617–22.

    Article  PubMed  Google Scholar 

  25. Pruniski B, Lisi E, Ali N. Newborn screening for Pompe disease: Impact on families. J Inherit Metab Dis. 2018;41:1189–203.

    Article  CAS  PubMed  Google Scholar 

  26. Bartley N, Napier CE, Butt Z, Schlub TE, Best MC, Biesecker BB, et al. Cancer patient experience of uncertainty while waiting for genome sequencing results. Front Psychol. 2021;12(Apr):647502.

    Article  PubMed  PubMed Central  Google Scholar 

  27. Sparud-Lundin C, Berg S, Fasth A, Karlsson A, Wekell P. From uncertainty to gradually managing and awaiting recovery of a periodic condition-a qualitative study of parents experiences of PFAPA syndrome. BMC Pediatr. 2019;19:1–9.

    Article  Google Scholar 

  28. Webster M. The cycle of uncertainty: parents’ experiences of childhood epilepsy. Sociol Health Illn. 2019;41:205–18.

    Article  PubMed  Google Scholar 

  29. Biesecker BB, Erby L. Adaptation to living with a genetic condition or risk: a mini‐review. Clin Genet. 2008;74:401–7.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  30. Madeo AC, O’Brien KE, Bernhardt BA, Biesecker BB. Factors associated with perceived uncertainty among parents of children with undiagnosed medical conditions. Am J Med Genet Part A. 2012;158:1877–84.

    Article  Google Scholar 

  31. Truitt M, Biesecker B, Capone G, Bailey T, Erby L. The role of hope in adaptation to uncertainty: the experience of caregivers of children with Down syndrome. Patient Educ Couns. 2012;87:233–8.

    Article  PubMed  Google Scholar 

  32. Yanes T, Humphreys L, McInerney-Leo A, Biesecker B. Factors associated with parental adaptation to children with an undiagnosed medical condition. J Genet Couns. 2017;26:829–40.

    Article  PubMed  Google Scholar 

  33. Lipinski SE, Lipinski MJ, Biesecker LG, Biesecker BB. Uncertainty and perceived personal control among parents of children with rare chromosome conditions: the role of genetic counseling. Am J Med Genet Part C Semin Med Genet. 2006;142:232–40.

    Article  Google Scholar 

  34. Zhong L, Woo J, Steinhardt MA, Vangelisti AL. “Our job is that whole gray zone in between there”: investigating genetic counselors’ strategies for managing and communicating uncertainty. Health Commun. 2020;35:1583–92.

    Article  PubMed  Google Scholar 

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Acknowledgements

We would like to extend our heartfelt thanks to the families who participated in this study. We are grateful for their time and input.

Funding

This project was supported by the Health Resources and Services Administration (HRSA) of the U.S. Department of Health and Human Services (HHS) as part of an award totaling $2.97 million with 0% financed with nongovernmental sources. The contents are those of the author(s)and do not necessarily represent the official views of, nor an endorsement, by HRSA, HHS, or the U.S. Government.

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Authors and Affiliations

  1. RTI International, Research Triangle Park, NC, USA

    Melissa Raspa, Oksana Kutsa, Sara M. Andrews, Angela Y. Gwaltney, Erin Mallonee & Barbara B. Biesecker

  2. Immune Deficiency Foundation, Towson, MD, USA

    Alissa Creamer

  3. National Cancer Institute, Bethesda, MD, USA

    Paul K. J. Han

Authors
  1. Melissa Raspa
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  2. Oksana Kutsa
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  3. Sara M. Andrews
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  4. Angela Y. Gwaltney
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  5. Erin Mallonee
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  6. Alissa Creamer
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  7. Paul K. J. Han
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  8. Barbara B. Biesecker
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Contributions

MR, SMA, AYG, AC, and BBB were involved in study design and conceptualization. SMA and AYG collected the data. MR, OK, SMA, AYG, EM, and BBB analyzed and interpreted the data. MR, OK, SMA, AYG, EM, PKJH, and BBB were involved in writing and reviewing the manuscript. All authors read and approved the final manuscript.

Corresponding author

Correspondence to Melissa Raspa.

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Competing interests

The authors declare no competing interests.

Ethics approval

This study was reviewed and approved by the RTI International Institutional Review Board. Participants provided informed consent prior to data collection.

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Raspa, M., Kutsa, O., Andrews, S.M. et al. Uncertainties experienced by parents of children diagnosed with severe combined immunodeficiency through newborn screening. Eur J Hum Genet 32, 392–398 (2024). https://doi.org/10.1038/s41431-023-01345-5

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