Heather Smith1, Christopher Scalchunes2, Morton J Cowan3, Jennifer Puck3, Jennifer Heimall4. 1. SCID Angels Life Foundation, Lakeland, FL, USA. 2. Immune Deficiency Foundation, MD, USA. 3. Division of Pediatric Allergy, Immunology, and Blood and Marrow Transplantation; Benioff Children's Hospital, University of California San Francisco, San Francisco, CA, USA. 4. Division of Allergy and Immunology, Children's Hospital of Philadelphia, USA. Electronic address: heimallj@email.chop.edu.
Abstract
INTRODUCTION: Infants with SCID are treated with hematopoietic cell transplantation (HCT) or gene therapy (GT). Caregiver perceptions of pre-treatment counseling and understanding of durability of HCT/GT are poorly understood. METHODS: A survey was designed and distributed to families of patients with SCID. Topics in the questionnaire included SCID genotype and treatment, family recollections of pre-treatment counseling and present clinical status. RESULTS: 151 surveys were analyzed. 132 were treated with HCT, 19 with GT. From counseling received, 37% expected HCT/GT would lead to "cure"; 43% expected HCT/GT would last a lifetime. Of 136 living patients, 59% reported overall good health but 65% reported some persistent health challenges. CONCLUSIONS: For some, interpretation of the word "cure" varied, leading to misunderstanding regarding need for continued medical evaluations and additional therapies. Clear communication regarding the importance of lifelong follow-up, no matter the treatment outcome, will help to optimize good health and quality of life.
INTRODUCTION: Infants with SCID are treated with hematopoietic cell transplantation (HCT) or gene therapy (GT). Caregiver perceptions of pre-treatment counseling and understanding of durability of HCT/GT are poorly understood. METHODS: A survey was designed and distributed to families of patients with SCID. Topics in the questionnaire included SCID genotype and treatment, family recollections of pre-treatment counseling and present clinical status. RESULTS: 151 surveys were analyzed. 132 were treated with HCT, 19 with GT. From counseling received, 37% expected HCT/GT would lead to "cure"; 43% expected HCT/GT would last a lifetime. Of 136 living patients, 59% reported overall good health but 65% reported some persistent health challenges. CONCLUSIONS: For some, interpretation of the word "cure" varied, leading to misunderstanding regarding need for continued medical evaluations and additional therapies. Clear communication regarding the importance of lifelong follow-up, no matter the treatment outcome, will help to optimize good health and quality of life.
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