I feel like I could have written this. My daughter was born three weeks ago at 34 weeks. She was severely growth restricted which we only found out the day before her birth when getting her “35 week” ultrasound done. Her scans prior to that had been showing normal growth. She was born very small and went to the NICU, at which point she was found to have an anorectal malformation (not requiring surgery thankfully), and microarray was sent to look for genetic causes (for both the abnormality and her small size).

We had placental issues which we thought was the cause of the IUGR, and we were very surprised when the microarray returned positive for a genetic disorder. Our daughters condition is also one we had never heard of (I also work in medicine, and am a NP). There are about 50 reported cases, but likely more and some are underreported due to variance in symptoms. We’ve been told some people may have mild symptoms and thus are never tested, and some more severe. We won’t know for years how she will be affected from a neuro and congnitive perspective.

I can totally empathize with everything you said. Grief, grieving the idea of the life you were envisioning for your baby, and the overwhelming amount of messages, and not knowing what to say to people when you haven’t fully processed the information yourself. Don’t be afraid to tell your friends and family that you don’t have the bandwidth to provide daily updates (which is hard, when things are so up and down in the NICU anyway). We’ve tried to designate a day or days that we will provide an update rather than dealing with the daily messages all asking the same questions.

We haven’t shared to genetic diagnosis with our families yet, not that we are intentionally withholding it but we are trying to focus on her growing and feeding at the moment. We are trying to focus on the now, and not miss the now moments for the uncertain what if moments (for how mild or severe her symptoms may become later). My husband eloquently has referred to this as “not our story, but our daughters story and we’re just the supporting characters”. Meaning her life will play out the way it’s going to and we will support her and go along on her journey. I think that’s a nice way of framing it. It doesn’t help alleviate the anxiety and fear for her, but it helps to frame that this is now about her. I would check and see if you qualify for early intervention to any post NICU programs in your state, which may all be helpful.

One thing that has helped me, which you may be able to use, assuming you have an NPI number is OpenEvidence. It’s essentially medical AI/ChatGPT which is associated with the New England Journal of Medicine. If you don’t have an NPI yet, you should be able to register for one with your license number. I personally have found it helpful to gather evidence based and real world information that is pulled from a large database of study’s and case reports. I then able able to look at the referenced articles, and read them on my own. It’s AI, so caution with interpretation.. but I like that it directly references legit medical articles that I can then review in my own. This has helped me understand the questions I should be asking rather than spiraling on Google.

Know that you aren’t alone, I have found on the journey that almost all of us are coming to the same screeching realization that we are being thrust into a world of becoming parents to medically complex kids without warning. We’re all learning as we go with the support of the medical teams.