Jonah

May 16 2000

 
 
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 twinmama2000@yahoo.com   

Website: http://www.angelfire.com/amiga2/jenniz

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