Maddisyn

Signs & Symptoms

Birth: - Normal Pregnancy until labour when she had an abnormal heart rate, on delivery she swallowed a lot of amniotic fluid which she had pooed in earlier.
-She was born naturally with forceps. She came out quite blue and with very large blue hands.
-After birth she was in special care with RDS then transferred to NICU.
-She had unstable blood sugars (slightly high insulin and slightly low sugars) that was a mystery to all doctors.
-Fluid in the lungs.
-Episodes where she was turning blue and slowing down her breathing and 'arching her back'. They still don't know why but we suspect it was birth trauma followed by the nurses wrapping her too tightly.
-Feeding issues (not eating) couldn't suck.
-We were told she may be home at the end of the week but then came more news. The doctors came in and told us she 'looks different'. They got a geneticist to come and look at her and they agreed she had some mild dysmorphic features.

Build / Stature: -25th percentile for head, weight, and length

Ears: -Cupped ear; -Abnormal creases on ears
-Ears slightly low-set and posteriorly rotated

Eyes: -Wide set eyes; -Brow bone is also very flat/ she has shallow set eyes

Nose: -Broad/low nasal bridge
-Flatness across the nose

Mouth: -Long philtrum; -Very thin lips; -Down turned mouth
-High Palate

Development: -She is currently 3 1/2 months old
-She has been smiling and cooing for a long time (makes a number of different sounds) Loves to have conversation
-She can laugh
-Follow objects with her eyes and turns her head both ways
-Grab toys and shakes them or pulls them to her mouth and sucks on them
-Takes an interest in books (watches the pages and smiles/reacts to funny words like 'whoosh!' or 'surprise!')
-Hold head and chest up on her tummy
-Rolls to her side
-Rolls from tummy to back
-Plays with feet
-Stands on her feet
-Sits up rather well (with support)
-Has one tooth

Feeding: -She came home after 4 weeks in hospital, still wasn't drinking and she had a nasal gastric tube.3 days after being home she pulled it out and started eating on her own.

Personality: - Very social baby
-Easily upset, when she gets upset she screams a lot and gets into a REAL state (like a 2 year olds tantrum)
-Sometimes is seems like all she does is scream for no reason
-Low pain tolerance
-Gets easily excited
-Scares easily
Laboratory Test and Findings: -Chromosomes - normal
-Karyotype - normal
-FISH test - normal
-Brain monitoring - normal
-Brain ultrasound - normal
-Brain MRI - normal
-Eyes test/ scan of retinas - normal
-Hearing test - normal
-Heart ultrasound - normal
-Kidney ultrasound - normal
-Stomach ultrasound - normal
-Bone x-rays (they thought her bones might be short) - normal
-Spine ultrasound - normal
-Reflexes - normal

Contact: Elyse mom to Maddisyn at elyse@lokiee.com

Any troubles with e-mails send to amy76jo@yahoo.com