I'm still here! Don't worry, I didn't jump off a cliff or drink the kool-aid.
We've been so busy since my last update with doctor appointments, PT, OT, ST, traveling, in-laws, and my new obsession with JoAnn fabrics...
We finally got some good news about the genetic test results. It seems that even though Lillian has the rarest of the rare types of PWS (only 1 in over 3,000,000 babies will be born with her genetic imprinting defect) our genetic counselor, the lab that processed the results, and one of the top geneticists for PWS in the country all believe there is a very low chance for recurrence.
There's always the offer of prenatal testing for the next pregnancy, but Phil and I both agreed we aren't really interested in that. If we end up with another baby with Lillian's condition, that baby will bring us just as much joy as she does and they will live a happy life just like she will.
Speaking of living a happy life... We flew to Florida to meet Lillian's new endocrinologist and LOVE her. She filled us with so much hope and positive energy about Lillian's future. She made it very clear that Lillian will have plenty of opportunities in her future to do big things. She will go to school, she can go to college if she chooses, she can ride horses, play soccer, and have sleep overs. For the most part, she will live a pretty typical life. There will always be some things here and there that will be a bit of a challenge, but it all seems so much more manageable. (Did I mention said doctor and I had the same bright neon pink toe nail polish on? She's spunky AND smart.)
She was impressed with Lillian's strength and said she could tell we have a great PT, which we do :). We talked about Lillian's feeding issues (she's still tube fed because she doesn't want anything to do with bottles... but boy does she love her veggies!). There's a wonderful dietitian that will be taking over Lillian's diet once she returns to work after her maternity leave. Luckily she is working with the doctor by email to get us started on the right path to making Lillian a skinny kid... which is not an easy task with a child that has PWS. It's a crazy balance of trying to feed her the minimum amount of calories without taking away her energy or brain growth. Thank God they are professionals.
And here's Lillian modeling the first dress I've attempted sewing her. If you click on the pictures you can see the fabric up close (and my hot pink toe, lol):