More genetic results

I get a letter today with the results of genetic testing for B to exclude Angelman syndrome. The test has come back normal. B is going to be recruited onto the DDD study (Deciphering Developmental Delay) which will be starting in a few months' time.  As usual the news of a condition B doesn't have always comes with mixed reaction. I research the syndrome get myself in a panic and then feel relieved when he doesn't have it and then angry and upset again because we don't know what we're dealing with. I always think forearmed is forewarned. I crave knowledge on every topic. It's frustrating that we can't tell people what's 'wrong' with B.

Developmental review

Back at the paediatrics today for a review of B's progress. The current problems are now history of mild motor delay, non-specific abnormality on MRI brain and social communication difficulties.

B is now walking independently. He still tends to trip and fall easily. Main concern now is his lack of speech. He makes occasional sounds but he communicates in a motoric fashion. He pulls our hands to the area he needs to get something from. We go through the motions of guessing what he needs. Once his need is identified, he quickly takes whatever it is and moves away. He has no imaginative play and needs to be guided to complete new activities. He has had no contact from speech and language recently and this will be chased up. I ask for support with toilet training and will be contacted by a health visitor.

B will get referred to the joint social communication clinic for a review.