Philip

Dec. 23 1993

 
 

Diagnosed on May 17 2002
"Worster Drought Syndrome"
http://www.wdssg.org.uk
 
Symptoms of the above diagnosis

Features & Characteristics

- Difficulty feeding, couldn’t stay awake to feed, weak suck,
- Completely non-verbal, some meaningful sounds.
- Still requires pureed food aged nearly 8, although able to eat some soft foods
- Drooling, improved from 4 years of age.
- Teeth not properly erupted, delayed teething for both primary and secondary. (Cross bite as well)
- Failure to thrive diagnosed at 5 weeks
- Severe Global Apraxia
- Frequent ear infections (5 sets of tubes)
- Receptive language and Reading ability at age level.
- Normal birth, with 2 apnea’s in first 24 hours
- Birth weight 2 pounds lower than expected given family history etc.
- Sleepy baby, noted to be unusually hyperreactive in neonatal ward.
delayed swallow, with abnormal tongue movements.
- Hypotonic with dystonic spasms
- Once bottle-fed became unusually sleepy, woken for feeds, never cried when he woke.
- Gross motor delays, sat at 10 months, crawled on tummy at 12months, hands and knees at 14 months, walked at 22months.
- Fine motor delays, aged nearly 8 still unable to write name with pencil.
- Velopharyngeal Insufficiency
- Sensory integration Dysfunction
- Low set ears
- Vision difficulties, possible ocular motor apraxia
- Long thin tapered fingers with unusual bent over tips and abnormally formed nails (I’ve never cut them in 8 years, but they don’t grow)
- Low hairline
- Fine Sparse hair
- Hairy stripe on spine, dimple above buttocks.
- Flat feet
- Unusually placid boy
- Friendly and has great Social skills
- Concepts as measured by CELF testing age appropriate

Tests

- MRI (brain)
- CAT (brain)
- Ultrasound (brain and bladder)
- FISH (looking for 22q deletion, Williams syndrome, Angelmans Syndrome) x 2
- Urine testing looking for metabolic disorders
- Muscle biopsy looking for Muscular dystrophy.

Contact: Annemarie mom to Philip at kipperkid@actrix.gen.nz
Website: http://www.fortunecity.com/millennium/redwood/106/philip.html

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