Light of our Life

Sunday, January 30, 2011

When things feel too heavy and I get a little down..Sam turns my world around with his sweet smiles.. these were after his bath last night.

He is PURE silly and makes my heart melt. Momma loves you sweet boy!

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Samuel's Health Challenges

Probable Mitochondrial Disease with Complex 1 and 3 Defects in the OxPhos respiratory chain
Major risk for metabolic decline and acidosis with physiologic and sensory stress.
Frequent Bradycardia (low HR) episodes that have proceeded cyanosis/ low oxygen desaturations and required life saving resuscitations and stimulation. Now happening less frequently with stress avoidance.
Exercise intolerance, endurance concerns and muscular weakness.
Significant GI pareisis and decreased motility causing frequent pain and feeding concerns. Much improved recently with addition of gastric neuro-stimulator device implanted in abdomen.
Fiber 1 and 2 atrophy shown with muscle biopsy.
G Tube fed but now also taking in some nutrition by mouth.
Pyridoxal 5 Phosphate (co-enzyme of B6) dificiency
Nissen/ fundoplication created to ensure no reflux or aspiration of stomach contents into lungs.
Autonomic Dysfunction / Vaso vagal instability which is apparent on multiple levels. From temperature intolerance to circulatory irregularities and his Brady events, all related to nervous system malfunctioning.
Transitionary Air Hunger/ Respiratory Distress
Oromotor Dysfunction
Hypotonia of the trunk area.. now far less obvious than as a baby.
Diffused Encephalopathy at birth but now EEGs indicate typical brain waves.. may be transitional with stress.
Tracheomalacia - airway collapses
PFO (small hole) with right to left shunting that never closed on his heart at birth.
Seizures - well controlled by medication
Developmental, Fine and Gross Motor as well as speech delays, missing most of his milestones but currently and rapidly making strides.