Good News Comes Our Way!!!

I decided to call Dr. Wheeler (the girls Geneticist) today to see if the test results on Bree came back. The nurse called me back and let me know that the MECP2 test for Rett Syndrome has come back NEGATIVE !!! The relief was only momentary because there is still another genetic mutation that could come back positive. We will be visiting the office again to have the CDKL5 test performed. We'll have to wait another 4 weeks for those results. The testing will not end there. There will be visits to Shands Hospital in Gainesville to discuss other options.

So far Bree is doing well on her new med. She hasn't been as fussy but is more drowsy than usual. Both girls had their helmets adjusted yesterday and poor Bree's helmet is just too tight. Paige's helmet is still too loose. Hopefully they'll get it right next time. Tomorrow we will take the girls to see their neurosurgeon. He will evaluate whether the helmets are improving the flatness or not. We should only need to have them adjusted every other week now - one less trip to Orlando!

Therapy is going as expected. Paige has met one of her goals so far. She is able to hold a toy in her hand and bang it on a surface. Bree has met one of her goals as well. She is passing a toy from one hand to another. Both girls are rolling over from back to stomach - although Bree is doing it more often. They are also sitting with less help and tracking objects more frequently. They are more vocal as well. They've started to make consonant sound along with vowel sounds (ex: de de de, ge ge ge). Development continues to go as expected.

We've started to prepare for their birthday party. Invitation will be sent out soon. We're also celebrating because they will be cleared to go out in public. They been under quarantine due to their suppressed immune system caused by the ACTH that ended two months ago. So we'll finally be able to have friends and family come to see the girls. There are many people who haven't seen them in almost 4 months. So we're excited to have everyone over!