We just got a call from the geneticists at Primary Children’s. We nailed it! My research efforts were dead on. We are now the proud parents of a 1p36 kid. You would think my feelings would be more bittersweet, and maybe that will come later, but in reality, it’s an enormous relief to have a diagnosis. They are finishing up the FISH test to determine the severity. So the search is over and the work begins.
We have been working with Misha’s walking, balance, and sign language a lot. His balance is improving. He is actually starting to stand unaided for several seconds at a time. His walking is getting more sure. He is slowing starting to catch himself when he loses his balance. Signing is still slow though. He immediately picked up on “more”. In fact, he had it down the day we introduced it to him. “Eat” and “Drink” are coming along. “Eat” he will do with some prompting (he still prefers to point and say “AAAAAAHH!”). “Drink” he will only do if I take his hand and position it. But he is only 19 months.
