Bree Alivia was born on September 15, 2010, our perfect baby girl, everything Bree was doing was going as to be expected until it wasn't. She was about 6 months when I feared she was not reaching her milestones when she was supposed to. She was a happy baby never cried hardly slept well, took formula well, held her own bottle, made noises, said Mamma, Dada, clapped, she just never made floor transitions on her own, she would not roll from belly to back nor push up. I addressed my issues with the pediatrician, and I was told she looked fine and would catch up.
At 18 months old she was sent to a neurologist, and placed in physical therapy. Her MRI was normal so I got no answer, with therapy she was able to learn to come to her knees and she hopped every where never really crawled. She developed this repetitive hand to mouth motion and would not stop. Her physical therapist told me she suspected Rett Syndrome, I went home and read all about it and cried, I prayed that was not it, that it was nothing. She started to develop quite a few GI issues, she loved to eat but about 30 mins after she would throw up everything, this continued till she was almost 3, she had numerous tests done. I found out she has extremely delayed gastric emptying, and swallowed an extreme amount of air, and constipation. They tried all different kinds of medicines but nothing helped and all she weighed was 19lbs, so they decided to place a g tube( this process began Jan 2013), that helped a little but she still threw up because of the delayed emptying and air swallowing, Her tube was converted to a g-j tube and she started receiving feedings through the j port and I use the g port to vent her air she swallows. She started to gain weight and she was healthy but still no answer why all of this? I was sent to a geneticists and they wanted to test her for Rett syndrome... On June 4th 2013 I received the phone call, the test for MECP@ was positive, They told me to call her mutation R27ox. I was up set for a while, and I still have sad days, but Bree is Amazing.
Bree now currently goes to physical therapy, occupational therapy, and speech therapy multiple times a week, she participates in the ppcd program at school. She sees a rett specialist in Houston which I love. Bree does not walk, nor stand on her own but That is my goal for her to be able to walk one day, and I know she can do it. She still receives feedings via j tube and her GI dr is now in houston , which specializes in Rett syndrome. She has few words she says, I know what she is saying.
She is my Angel. She is so happy and innocent, she tries so hard at everything. I love her more than I could imagine and we will be on this journey with her to give her everything possible.
My current struggles are dealing with getting medical help with everything the system is not easy but I hope this gets better.