Hello mamas. DS is 19 months and finally we have reached some answers. He was born with a cleft soft palate, and had tons of feeding issues the his whole 1st year. He is skinny, barely on the charts. Has had issues gaining weight since he was born. He fell behind developmentally and has been receiving speech therapy since he was 12 months old. He has some low muscle tone and issues with his pincher grasp. He doesnt use words, only sounds. He finally started walking when he was just over 17 months old. He was tested genetically when he was born but passed both of the standard tests. A few months ago we saw the geneticist again and she recommended doing one more test. The test came back and he has a small deletion of 32nd part of the 2nd chromosome - 2q32 microdeletion. Basically tying everything together and giving us the real reason he has had problem after problem - slow growth, developmental delay, the cleft.. He is doing well and making big strides every day. His case is mild compared to what it could be. He is most likely going to have a learning disability and need help in school. Ive been tested to see if I carry the same gene, waiting for the results. The only thing is there is barely any info or support out there. They have only had the technology to detect this since about 2005.
Are there any other mamas going through this? Anybody with similar issues? I would love to find some support and compare experiences.
Really the only place I have to turn to is www.rarechromo.org and its not much! Hoping for some feedback.