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Page 2 of 4 Gilheeney. Rare Dis Orphan Drugs J. 2026;5:15

So how do you answer? Truthfully, you have questions of your own to answer first. Your own chart review
led you to believe the patient was a 20-year-old male. Where in the history is sex assigned at birth
documented? Do we even know the data pertinent to this situation? Do you need more information from the
patient’s history, further testing, or review? Perhaps you then find yourself somewhat “stuck”.

The diagnosis of a chronic health condition has ramifications in multiple spheres: physical, emotional, social,
and financial. As physicians and providers, we almost always feel more comfortable with the physical. Yet the
objective data and observations we gather are often paired with subjective reports, but we can quantify them,
order tests, and try interventions. However, these interventions need to be initiated for the patient in the
setting of social and emotional factors. This requires empathy, understanding, and compassion. The latter of
those is perhaps the most recent development when one considers the case of physicians and practitioners
taking care of patients who identify within the lesbian/gay/bisexual/transgender+ (LGBTQ+) population.

A Gallup Poll published in February 2025 showed that 9.3% of adults in the US consider themselves to be
included in the LGBTQ+ population . That data simply does not exist for the population of American
[1]
physicians in the current published peer-reviewed literature and most certainly does not include reports of
this type of socio-cultural diversity from a geographic standpoint. One might then ask a question such as,
“How then does a male heterosexual doctor who identifies with his gender assigned at birth advise a female
lesbian patient with NF-1 about carrying a pregnancy to term and what that means about starting a MEK
[mitogen-activated protein kinase (MAPK) kinase] inhibitor?”

Inclusivity as an idea is generally somewhat easier to take on intellectually than in practice. That is probably
because practicing inclusivity in the healthcare setting requires knowing your patients in a way that some
practitioners might not think even applies to their practice or field. Many practitioners may firmly believe
that knowing a patient’s sexual orientation or gender identity has no relevance to their specialty or
subspecialty. For some, we were not trained to inquire as to how best to pose these questions.

In truth, that is for our patients to decide and not us. Sexual history has long been included as an integral
part of a patient’s history and physical examination, and there are multiple publications that provide students
and professionals with tips and guidance on how to frame these questions in open-ended and supportive
ways. Some of us, admittedly, are more facile with this than others. However, this information can also be
garnered from forms and/or questionnaires provided to patients at their initial visit. Regular updating of this
information can also be helpful. The important part of all of this is that a patient can feel free to express their
answers in a way that is professional, courteous and taken as important by their healthcare practitioner.

Garnering this information in one way or another can also help prevent a bias that can be especially
damaging to the doctor-patient relationship. Through our daily interaction with people, we can often
(though clearly not always) find ourselves coming to assumptions about people. In this sphere, one can
assume a particular person is gay or straight. One can assume a patient is cis or trans. However, experience
for many physicians and practitioners has shown that our assumptions can be wrong just as often - if not
more often - than they are correct. Furthermore, these assumptions can reveal our own internal biases
toward our patients in ways that can be off-putting or even damaging and hurtful to our patients. In cases
such as these, there are references and tools that exist that allow patients to express this information. These
include sexual health questionnaires and organ inventories. These invaluable resources can help guide
counseling as well as curative treatments and preventative strategies.

Turning back to our initial patient, then….. So what do we know? First and foremost, it must be made
exceptionally clear that this invited commentary cannot and will not include an in-depth discussion as to the
particulars of gender-affirming hormonal therapy. A broad but decidedly correct statement to make is that