Should We Stop Calling Thanatophoric Dysplasia a Lethal Condition? A Case Report of a Long-Term Survivor

• Published in: Palliative medicine reports Vol. 1; no. 1; pp. 32 - 39
• Main Authors: Carroll, Ricki S., Duker, Angela L., Schelhaas, Andrea J., Little, Mary Ellen, Miller, Elissa G., Bober, Michael B.
• Format: Journal Article
• Language: English
• Published: 140 Huguenot Street, 3rd FloorNew Rochelle, NY 10801USA Mary Ann Liebert, Inc., publishers 01.05.2020; Mary Ann Liebert
• Subjects: Case Discussions in Palliative Medicine; lethal condition; pediatric palliative care; perinatal palliative care; prognosis; rare disease; skeletal dysplasia; perinatal palliative care; thanatophoric dysplasia; rare disease; lethal condition; prognosis; pediatric palliative care; skeletal dysplasia
• DOI: 10.1089/pmr.2020.0016
• ISSN: 2689-2820

Thanatophoric dysplasia (TD) is a rare skeletal dysplasia commonly thought to be lethal. In this case report, we discuss a nine-year-old male with TD and review his parents' decision making shortly after their son was born, the technology needed to sustain him, and his parents' perception of his quality of life. We also summarize the clinical course of published long-term survivors with TD. Pediatric Palliative Care teams, especially those conducting perinatal palliative care consultations, are often asked to support families in the face of prognostic uncertainty. Our case report and review of the literature adds to the uncertainty of prognosis in TD and suggests that pediatric palliative care providers should be wary of the label “lethal.”