Emily

August 8 2000

 
 
Signs & Symptoms
 
Birth
- 33 week, measured by ultrasound at 10 weeks for date of delivery
- In NICU for 23 days, apnea of prematurity, trouble feeding (poor suck and swallow reflex), jaundice umbilical hernia camptadactaly (fine motor issues)
 
Build / Stature
- Slow weight gain  (at 18ths was 20 lbs, 78 inches, 44cm head size)
Head
- Microcephaly (normal at birth)
- Trigoncephaly
Ears
- Low set ears
Eyes
- Optic Nerve Hypoplasia
- Nystagmus
- Strabismus
- Droopy eyelids
Nose
- Unusual Cyst in sinuses
- Polyps
 
Mouth
- Weak mouth muscles (can't stick out her tongue)
 
Teeth
- Delayed teeth development
 
Skin
- Eczema
Upper Limb
- Long tapering fingers
Lower Limb
- Flat feet
Respitory System
- Asthma
Alimentary Tract
- Slow Gastric Emptying
- Reflux
- Gastric ulcer
 
Feeding
- Failed 3 feeding clinic but started to eat at age 8 with Kennedy Krieger.
- Stopped drinking bottle at age 9
 
Neurological
- Seizures
 
Neurological Functional
- PDD NOS/Autism
- Weakness in hands
- Dystonia
- Sensory issues
- Increased tone in ankles, legs, forearms
- Speech delay (makes sounds, no babbling)
- Developmental delay
- Poor tongue movement, horizontal smile
- Possible oral apraxia
- Motor delay
- Decreased ability to supinate arms
- Waves arms when excited
Laboratory Test and Findings
- New testing normal
- Bone survey normal
- CT and MRI at 8 months normal
- Urine organic acids normal
- Normal female karotypes
- Fragile x ---- normal
- FISH --- normal
- Swallow study ordered (cannot eat lumpy food but will eat hard food that will melt in mouth..will pocket food by gums and teeth)

Contact: Jenny mom to Emily at jenrooker@hotmail.com

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