Twenty days ago Anastasia made her dramatic entry into the world; God willing, before the end of today she will depart the hospital and come home to live with her siblings! Twenty days ago we were ready to accept that God might call our new daughter to her eternal home before she reached a week in age; now, in wonder, we’re cautiously optimistic that she could live into adulthood. There are still many, many unknowns and a long, uncertain road ahead but it’s looking more clear that the road will actually extend well into the future.
While there are many unknowns we have received a couple answers. Within a couple hours of Anastasia arriving at Children’s Mercy Hospital one of the doctors said that he was certain that Anastasia had a genetic defect. While his initial guess what that defect might be (a Trisomy condition) was wrong, he was correct in the general statement and this week we received more information: Anastasia has what’s called “7q36 Deletion Syndrome” meaning there a deletion on section 36 of her 7th chromosome. Feel free to Google (with Bing) that syndrome: while Anastasia isn’t the first in the medical literature to be diagnosed with this she might be the only person within 200 miles with it at the moment. As such, what to expect going forward is somewhat unclear. 7q36 deletion isn’t really “a thing” so much as a spectrum and while we believe that Anastasia is on the severe side of the mean on this spectrum that doesn’t really tell us much. Her other symptoms that we’ve covered before — seizures, orofacial cleft, holoprosencephaly, microphthalmia, and a couple other Greek-medical vocabulary terms — are all consistent with 7q36. About the only thing we can say at the moment is that we expect Anastasia to be with us for the next several months so if you like these updates, there will be future reading material!
But the big news, which I mentioned at the top, is that — barring a sudden setback in her condition this morning — our baby girl is coming home today. For that reason I’ll skip the photos this morning and will send some homecoming photos either tonight or tomorrow.
Thank you again for your help, prayers, notes, food, babysitting and other assistance — there is no way to thank you enough and I pray that we never forget to implore God to reward you!
