Symptoms

Ezra’s Phenotype, Symptoms and Diagnoses- Past and Present

…he looks cute in his genes and other important things.

These are mostly in chronological order. Some of these are considered normal phenotype or symptoms for any child and some are not. Some of the diagnoses have been resolved (marked “resolved”).

  • Most angelic looking newborn known to humankind
  • Absent Palmar grasp reflex at birth
  • Difficulty learning to feed effectively as newborn, partially due to tongue tie(For more see “History“)
  • Difficulty learning to mash food and later, biting down with front teeth to tear.
  • Hand tremors as a newborn
  • Heart murmur – benign
  • Difficulty with sleep from about 2 months to 9 months and then later during toddler-hood specifically during night hours, and during episodic events (would be awake for several hours during late night)
  • Macrocephaly – resolved
  • Torticollis – symptoms first noticed at about 4 months
  • Plagiocephally resulting from Torticollis – mostly resolved
  • Mixed hypertonia and hypotonia – mixed muscle tone. Specifically legs were so stiff that he preferred standing position to sitting position at about 4 months and could stand holding on to furniture. This made it very difficult for him to learn to crawl and walk
  • Global developmental delay
  • Delayed gross motor
    • Rolled over first at 4 months then not until regularly at 8 months
    • Army crawled, dragging left leg, using right arm to pull forward at 10.5 months
    • Cruised along furniture at about 14 months
    • Hands and knees crawled at 15 months
    • Pulled to sitting at 16 months
    • Pulled to stand from floor independently (not holding on to anything) at 26 months
    • Walking independently at 26 months
    • Running at about 3 years
    • Difficulty jumping independently at almost 4 years
  • Delayed fine motor
    • Able to finger feed from 9 months
    • At present still has difficulty with stacking blocks, doing puzzles
    • At present still has difficulty with scribbling, coloring
    • At present still has difficulty self-feeding with cutlery and open cup
    • At present still can’t dress self, although will help
    • Able to do finer movements like fitting straw into juice box hole
  • Soft stool
  • Speech delay – loss and gain of speech since he started babbling at 6 months – currently uses very few words and not consistently.
  • 4 limping, hemiplegic, motor regressive episodes since he started walking at 26 months. Episodes followed or accompanied by viruses – vomiting and/or fevers. Also often accompanied by sleep disruption, inconsolable crying, appearance of general malaise.
    • August, 2014 (reverted to crawling for a few days, limping resolved at about one month post episode),
    • January, 2015 (limping for about one month, lost all speech for 9 months post episode)
    • October, 2015 (limping for about one month)
    • March, 2016 (current episode)
  • Occasional whole body tremor (almost indetectable) lasting up to an hour.
  • Ataxic
  • Unknown speech disorder
  • Sensory Processing Disorder – specifically proprioceptive and vestibular dysfunction. Difficulty with body awareness, hyposensitive – seeks input. However, hypersensitive to vestibular/movements. Seeks tactile input as well.
  • Abnormal EEG (overnight) – (x seizures detected)
  • 3 normal MRIs (read more in History)
  • Dyspraxia – Developmental Coordination Disorder
  • Encephalopathy
  • Low carnitine levels – (x mutations)
  • Hemiplegic Migraine, Alternating Hemiplegia of Childhood – (x mutations)
  • Social Communication Disorder – resolved
  • Autism Spectrum Disorder – ASD
  • ADHD – Attention Deficit, Hyperactivity Disorder
  • Ridiculously handsome
  • Beautiful dimples, gorgeous eyes and lush eyelashes
  • Cuddly and sweet
  • Soulful and gentle