| Signs & Symptoms
- Large head
circumference
- Pyridoxine Dependent Epilepsy (seizures poorly
controlled)
- Awkward gait most noticeable when running
- Hypotonia,
- Sensory issues (mostly under-registration of
pain & pressure)
- Easy bruising
- Late eruption of teeth & discolored spots
on teeth
- 34 week preemie with moderately severe
respiratory issues
- Pregnancy complicated by hyperemesis gravidarum
- HELLP Syndrome & was a twin pregnancy
- Mitral valve prolapse
- Tricuspid valve leak
- Clumsy
- Falls a lot
- Long thin fingers
- Deep set eyes
- Epicanthal folds
- Difficulty maintaining body temperature, often
spikes high fevers of over 104*
- Severe constipation
- Very deep voice
- Unusual word pronunciation ('mum' instead of
'mom')
- No verbalization until after 24 months
- Developmental delay from infancy to about age 2
1/2
- Walked at 15 months
- Joint laxity (easily dislocated &
dislocations easily reduced)
- Asthma
- Recurrent pneumonia
Normal
Tests
- MRI,
- CMP
- Urine Metabolic Screen
- Blood metabolic disorders screen,
- TORCH Titers,
- Urine for organic acids
Abnormal
Tests
- Several EEGs.
Contact: Jenni mom
to Jonah at
momoftwingles@verizon.net
Website:
http://www.angelfire.com/amiga2/jenniz
Any
troubles with e-mails send to
amy76jo@yahoo.com
|