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Commentary | Open Access

Rare Disease and Orphan Drugs

Journal

Gilheeney. Rare Dis Orphan Drugs J. 2026;5:15 DOI:10.20517/rdodj.2025.38

Concerns for inclusive comprehensive

neurofibromatosis care - looking at the LGBTQ+
community

Stephen W. Gilheeney

Citation: Gilheeney SW.
Concerns for inclusive
comprehensive
neurofibromatosis care -
looking at the LGBTQ+
community. Rare Dis Orphan
Drugs J. 2026;5:15.
https://dx.doi.org/10.20517
/rdodj.2025.38

Received: 12 Jun 2025
First Decision: 28 Nov
2025
Revised: 23 Feb 2026
Accepted: 20 Mar 2026
Published: 27 May 2026

Academic Editor:
Daniel Scherman As will happen more often than not, a patient gets added to your schedule. A
Copy Editor:
Ping Zhang preliminary review of the chart shows you that the patient is a 20-year-old male with
Production Editor: a diagnosis of neurofibromatosis type 1 (NF-1). The specific reason for the visit is to
Ping Zhang
discuss results of recent imaging - specifically a left orbital optic pathway glioma as
well as a thoracolumbar paraspinal plexiform neurofibroma. Fortunately, the patient
recently saw his ophthalmologist, who noted stable visual fields and a moderate
refractive error, easily corrected with glasses. Even more luck - neither the magnetic
resonance imaging (MRI) brain/orbits nor the MRI thoracolumbar spine show
evidence of radiographic progression. You meet the patient, and throughout the
course of the history and examination, open-ended questioning reveals that though
he was assigned the sex of female at birth, he identifies as a transgender male and is
interested in pursuing gender-affirming therapy to transition to male. He asks you
about what effects that may have on NF-1 related care, specifically as related to the
optic pathway glioma and the plexiform neurofibroma.

Department of Pediatrics, Division of Hematology/Oncology, Icahn School of Medicine at Mount Sinai/Kravis Children’s Hospital, New
York, NY 10029, USA.

Correspondence to: Assoc. Prof. Stephen W. Gilheeney, Department of Pediatrics, Division of Hematology/Oncology, Icahn School of
Medicine at Mount Sinai/Kravis Children’s Hospital, New York, NY 10029, USA. E-mail: stephen.gilheeney@mssm.edu

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