Transgender can seem different and scary, but it’s not once you understand it & learn about people who identify as Trans. Want to understand it? One place to start is by reading chapter 11 in the book Far From the Tree by Andrew Solomon. (1/many) 
Here’s another story. Not about transgender but about how it is often impossible to assign a sex at birth. Ambiguous genitalia is biological but makes it impossible to easily define a person's sex. Neither can genetic testing make a conclusion about someone’s sex/gender. (2/32)
This story starts with a discussion about a heart condition, and it ends very differently. (3/32)
In the early years of my career, I worked in a maternal-fetal medical center. One family I will never forget. I remember their names, their children, and the details of the diagnosis of their third baby who died soon after birth from an un-repaired hypoplastic left heart. (4/32)
Hypoplastic left heart syndrome is a complex condition requiring a set of 3 heart operations in early childhood. It is often diagnosed prenatally via ultrasound, because of its severity. There are different causes; in some cases genetic and in other cases not. (5/32)
Even with surgical intervention being available for children born with HLHS, survival rate beyond early childhood was about 50-60% then (survival rates have gone up since then). (6/32)
The expectant woman and her husband were sent to our hospital from their regional one because the baby they were expecting (a girl, they were told) was thought to have HLHS. (7/32)
Their visit at our office would include a specialized heart study called a fetal echocardiogram, discussions with a pediatric cardiologist about post-birth surgery options, and genetic testing via amniocentesis. (8/32)
The family chose the amnio so we could try to determine an underlying cause of HLHS which would help with determining prognosis. Amnio would help provide them more information, which is what they wanted. (9/32)
I spoke to them via phone with the results when they came back. The genetic testing included analysis of the numbered chromosomes, plus the sex chromosomes. (10/32)
I informed them there were the typical number and structure of all chromosomes, including X and Y, confirming boy. “But it’s a girl,” the mother informed me over the phone. I was not present when they learned the baby’s sex from the ultrasound tech. (11/32)
I was not expecting that reply, so I told the wife I would speak with my colleagues, have them review saved ultrasound images, and made a call to the laboratory. We’d need a follow up discussion about what it means if all confirmed. (12/32)
Ultrasound image review confirmed 'female' genitals and laboratory confirmed XY chromosomes were present ('male'). Family came back once baby grew bigger. Genitalia appeared ambiguous this time, neither the typical male or female appearance. (13/32)
Still more genetic testing from the sample obtained on amnio would be needed. We would need to order an additional test that looks specifically at a gene called SRY, typically present on the Y chromosome. (14/32)
When SRY is missing/not functioning, typical developmental pathway to male does not occur even if Y chromosome is present. But even with SRY testing, it is still not possible to predict how every person with a difference in sex development will identify as an adult. (15/32)
“But God decides if we are a woman or man, not people.” the wife explained. I remember stumbling over my words. This wasn’t my first ambiguous genitalia discussion, but it was my first time discussing it with someone who was not aware it even existed. (16/32)
It was my first time being the one to introduce the fact that gender and sex are not divided into just male or female and the fact there is no genetic test that can conclusively call someone male or female. Human development is more complex than that. (17/32)
Biology is not binary. (18/32)
I recall explaining that there are some people for whom the ‘inside’ feeling about being a man or woman and the ‘outside’ appearance of their body do not match. (19/32)
I have relived this conversation over in my mind wishing I had done a better job explaining sex development differences, worried that somehow I played a role in their decision-making that followed. (20/32)
By the time we spoke again, the family explained they had decided they would not pursue surgery for their baby’s heart condition after delivery. Not taking any steps to correct the heart condition meant the baby’s life would be limited to a few hours or days after birth. (21/32)
They didn’t volunteer what had been the final deciding factor for them, whether it was because of the genitalia differences or a different reason. Neither did I probe for an explanation. (22/32)
There have been many times in my 13 year genetic counseling career when I have struggled with decisions my patients/families have made. This one is at the top. (23/32)
I have received thank you notes from a number of patients over the years, just for being there for them in a tough time. This family, whom I secretly struggled to help, is included in those numbers. (24/32)
It’s a strange feeling, getting thanked by someone whose decisions you can’t fully understand or agree with. (25/32)
There were times I have wondered whether I could have said something different. What if the baby’s genitalia hadn’t developed ambiguously? Would they have decided to move forward with the heart surgeries then? (26/32)
What if they had known that ambiguous genitalia existed, before it happened to their own child? Maybe they wouldn’t have been as shocked, or scared of the future for their child? (27/32)
Is there a way I could have helped educate them better? Did I somehow fail their baby? (28/32)
I shared my struggle once with a colleague. That person said to me, if it was the genitalia that made the difference, and the parents couldn’t accept it, can you imagine what that baby’s life might have been growing up in that family? (29/32)
I see the definition of gender being proposed by the HHS memo discussed in the Sunday @nytimes, and I’m sickened. How poorly informed, and from our nation’s “Health” department? How embarrassing. (30/32)
Biological sex often is not visible at or prior to birth. Neither can genetic testing determine if a person is male or female, as the memo claims it can. (31/32)
The HHS memo includes a definition of gender that is poorly written...and nonsensical. It will have far-reaching and devastating consequences. nytimes.com/2018/10/21/us/… (32/32)
