Our little girl is 24 days old, had an exompholas (diagnosed @ 20 weeks in utero) macrosomia - 9lb 2ozs @ birth, hypoglycaemic episodes at birth and after surgery, ear pits and creases on the right ear, stork marks on left eyelid and above nose, and enlarged abdominal circumference. She also had a severe tongue tie which was snipped when she was 4 days old, and although tongue overall is a little on the large side, there is no apparent macroglossia (according to her consultant). She also has a heart defect which, hopefully, should improve as she grows.
We also have a 6 year old son - text book pregnancy, birth and no further complications. Any pointers/ things to ask would be invaluable. I had to fight to get her microarray and karyotype tests done and sent off as the hospital initially was treating her for an isolated exomphalos, however, I pointed out BWS markers to the team looking after her in NICU, and after a heated followup discussion - agreed to the testing. Despite having done as much research as I can, I, for once, feel a little out of my depth. Any help would be greatly appreciated.