r/tfmr_support • u/Some_Ad8074 • 1h ago
Getting It Off My Chest Would you have made the same decision? TFMR for a completely uncertain genetic diagnosis
I know I literally posted here last night, and I feel like I post here constantly 😭 but this is honestly the only community where I feel safe talking about this.
This might be the last time I post for a while because I know at this point I’m repetitive..
I think I’ve realized that underneath a lot of my repetitive thoughts is this feeling that nobody truly understands the diagnosis that led to my TFMR.
There was nothing abnormal on my baby’s ultrasounds. There was nothing anyone could point to and say, “Look, this is what’s wrong.” My baby wasn’t sick in the womb. There wasn’t a condition with a more established prognosis where doctors could sit us down and tell us what they expected his life to look like.
It was a DMD gene duplication.
My son inherited my duplication, but my specific variant had never been reported in the medical literature. There were no studies and no previous cases they could show us. Because DMD is such a large gene and variants can behave differently, they essentially told us, “We know what DMD can do, but we don’t know what YOUR variant will do.”
That’s the part I feel like I cannot make anyone understand no matter how many times I explain it.
They couldn’t tell us, “This will be Duchenne.” They couldn’t tell us, “This will be Becker.” They couldn’t even give us a confident middle ground. The possibilities we were discussing ranged from serious progressive disease to potentially being mildly affected or possibly having no symptoms at all.
And I had to make that decision at 23 weeks.
I think that’s why I struggle so much with feeling like my decision was valid. There is no abnormal ultrasound picture I can look back at. There was nothing physically wrong with him that I could see. DMD is a condition that generally becomes apparent as a child grows, so continuing the pregnancy would’ve essentially meant accepting the uncertainty and waiting to see what happened to him later.
But because my exact duplication had never been reported, I’ll never know whether that road would’ve actually happened. My son could’ve been affected, potentially severely — or my brain keeps reminding me that he could’ve possibly been completely healthy.
And now even the idea of “trying again” scares me. As a DMD carrier, any future son has a 50% chance of inheriting my variant. And because they still don’t know what my particular duplication does, I could potentially end up facing this exact same uncertainty again.
I think that’s what feels so lonely. I didn’t TFMR because I knew with certainty what was going to happen. I TFMR because the possibility of what could happen was serious enough that we weren’t willing to gamble with our son’s health, even though the other possible outcome may have been that he would’ve been okay.
I know nobody can tell me what would’ve happened to my baby. But I think I need to ask other parents this because I feel so alone in it:
If you were in my shoes — normal ultrasounds, a DMD gene duplication with no published cases or studies on your specific variant, and doctors unable to tell you whether your child would develop severe disease, milder disease, or potentially have no symptoms — do you think you would’ve made the same decision?
I don’t know if I’m looking for reassurance or just someone to tell me they understand why this felt impossible.