Our 22mth old daughter has had problems since birth. We were told when she was 6days old it was highly likely that she has a syndrome or condition. We still don't have a diagnosis and feel very frustrated and hurt by this. Can anyone put the symptoms together and suggest what condition she has? Please?
Birth and the first few weeks - Born at full term. Struggled to keep her temperature up. Very floppy. Admitted to Special Care Unit at 5days old - poor suck - low sats - required oxygen for 3weeks. Pale and small optic nerve - eyes not focusing. Described as having hypotonia. CPK levels normal. Tummy button hernia. Described as having genetic markers for a syndrome or condition - wide set eyes - flat nose bridge - high palette.
Since - reflux - vomiting, frequent chest infections, had a bowel intersussection at 13mths corrected by surgery. Eye sight started improving at 3mths and is almost normal now.
Tests - 2 videofluroscopies (1yr apart) shows a poor swallow and slight aspiration but she manages to clear this before it enters her lungs - all fluids are thickened. MRI normal. Chromosome testing showed no deletions or duplication. Various blood n urine tests showed nothing.
Milestones - held head up on her own 7mths - rolling onto side 11mths
Now - if put in the sitting position can sit for a good period of time did this at 19mths - can't push herself into sitting position. Can roll over - clap hands - pincer grab. Can't stand, crawl or walk. Can take weight through legs when supported. Her muscles seem to work fine - she can kick her legs very hard, push me away, pull her sisters hair! However, it doesn't all seem to work together. She can say dada and make noises and do some animal sounds and is learning some sign language very well.
She is a lovely child and we have great support from physio, OT, speech therapist and development pead but we really want answers now - anyone?
Sorry its so long but I wanted to include as much info as possible