Why did this happen? Why/How does Rose have this diagnosis...
This question troubles me. I don't think we will ever know.
We met with the genetics team at Boston Children's while we were in the NICU - they were part of the rotation of specialists who came to evaluate Rose. They ordered bloodwork to test for Prader Willi and Angelmans - some combination of the hypotonia, some other features, and the ease of getting results that they started with those. They also sent away for a microarray to test if pieces of chromosomes were missing or added. They said it would take some time to get that result. She was negative for PWS and Angelmans. So far as genetics - that is all we knew by the time we left the NICU. This is early August 19
We had a follow up in Oct. The results of the microarray came back and Rose had one minor change. The next step was to do a microarray on both Arden and I. We got those results in December - Arden also had the same minor change and he has no issues so they said that was not the cause. They said most people likely have some difference with their chromosomes but that we don't normally do this level of testing on people.
We met again with the geneticist in December. The geneticist said the next step was the WES. It will take months to get results. We also had to decide if we wanted to know about incidental findings - they do the WES on both parents and the child and it is possible to find information about future medical issues. We said yes - we thought it would be important to know.
We finally got the results in June - they didn't find anything. Which is both a relief but also difficult. Answers are answers and we didn't get one.