I got a question from Joann from my last blog post so I figured I would answer it here. Abby was NOT diagnosed with RS in the womb. She actually didn't get her diagnosis until she was almost two. At 17 weeks gestation I had an ultrasound and it was a horrible experience. The u/s tech found something wrong in Abby's brain and she panicked. She got quiet, searched and searched then stopped to get a doctor. Way to scare the hell out of your patient. The doc came in and took a look and explained to us that "something" looked off in part of her brain. They wanted us to go to the hospital for another u/s which of course left us with days of waiting.
When we finally went for that u/s the perinatologist did the scan, didn't say much during and took us into his office after. When we sat down his exact words were "this is the worst meeting I ever have to have with parents... of wait, second worst", meaning at least our child was not dead. He explained that Abby had a ventriculomegaly, aqueductal stenosis, fluid in the frontal lobe and an oddly shaped cerebellum. At that point we had no idea the cerebellum was fused.
Over the next year she had a CT and an MRI (only a 1.5 tesla) and found those same issues. Again, no mention of the fused cerebellum. It wasn't until we decided to wait the 6 months to get an appointment with our neurogeneticist that the 3 tesla MRI was ordered. So this diagnosis is only a few months old for our family. We always knew something was wrong we just didn't know what.