Rare genetic mutation KAT6B, led Rachel, a genetic counselor, to decide to terminate her wanted pregnancy PART 1 OF 2

In Part 1 of 2 of this real TFMR story from mother Rachel Polans, we talk about the bad diagnosis that eventually led Rachel to end her wanted pregnancy. After struggles with infertility, IUI treatments, and a chemical pregnancy, Rachel finally got to hear this baby's heartbeat at 6 weeks.

But a later ultrasound scan showed bilateral club feet and led to more testing… 7 weeks of waiting for amniocentesis results… and then the phone call on her husband’s birthday that changed everything: KAT6B gene mutation. A condition so rare there are fewer than 150 cases in the world - and Rachel recognized it because she happened to have a patient with this exact gene.

As a pediatric genetic counselor, Rachel sees families going through these worst-case scenarios every single day. Going through it herself was something else entirely. Rachel's medical knowledge was both a blessing and a curse. It helped her know which tests to ask for, but it also meant she knew what could go awfully, awfully wrong.

If you're waiting for test results right now, if you work in healthcare and this is happening to you, if your body is telling you something's wrong even before the doctors say anything - Rachel's story will help you feel less alone. Thank you, Rachel, for sharing your baby’s story with us 💜

Rachel also wants to share her Instagram profile if you’d like to reach out to her:

https://www.instagram.com/rachel_polans

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📧 Email me, I want to hear from you: sabrina @ the tfmrdoula . com

📅 If you’ve received a devastating diagnosis and want emotional support through deciding what’s next, book a Decision Support call here: https://www.thetfmrdoula.com/decision-support.html

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Music credit:
Pamgaea by Kevin MacLeod
Creative Commons License
Links:https://incompetech.com/music/royalty-free/index.html?isrc=usuan1300036
License: http://creativecommons.org/licenses/by/4.0/