My Honey B

We had an appointment with the geneticist yesterday. We discussed the microarray test she has already had done that came back normal. She explained that it tests for 40-50 syndromes that have chromosomes that are deleted/missing and said that Brooklyn has a "misspelling" of her DNA. Whatever syndrome she has can't be detected at this time but that she was hopeful that eventually ( could be years from now) we would discover what it is. We have to go have more blood drawn because she has two more tests she wanted to run.. One is a carb def trans test which I have no idea what it is and the other test is for Rett Syndrome, or more specifically(MECP2 Sequencing). We went to the lab after her appointment but the tech was unable to find a vein and the blood had to arrive within 24 hours at the lab in PA so we have to wait until next week. The results will take 4-6 weeks. She also said she disagreed with the Neuro saying she had Microcephaly and that although her head growth has definitely slowed she didn't feel it was in the abnormal range. All the more reason to go to Boston for a second opinion.She is attending a seminar in March about children who have not been diagnosed yet and she asked our permission to discuss her and show her pictures. She said that there was a possibility that one Dr. would recognize her symptoms by having treated a patient in his years of practice. And if she ever walks we will need to see a Orthopedist since the difference in lengths of her legs is becoming very apparent. She said she wants to see her every 6 months to see how she is progressing