07/04/2017: The many diagnoses of Dax, EDS & then some

Just to recap:


(Date of onset inaccurate)

——

The symptoms that Dax has had so far:

  • Patent ductus arteriosis (at birth)
  • Chronic joint pain (multiple joints)
  • Generalized joint hypermobility (his hypermobility is fairly extreme)
  • Intermittent blurred vision (despite 20/20)
  • Tinnitus/ringing in ears
  • Headaches
  • Weakness
  • Chronic fatigue
  • Low tolerance for sugar, metabolic issues
  • Chronic malaise (daily flu-like feeling)
  • Chronic abdominal pain
  • Constipation
  • Incontinence (bowel and urinary)
  • Hypotonia/low muscle tone
  • Idiopathic allergies (reaction to temp extremes including snow)
  • Fasciculation (twitching, esp of legs and fingers/toes)
  • Inability to keep attention
  • Post-exertional malaise (even up to day’s later after activity)
  • Intolerance to activity/exercise
  • Low endurance 
  • Immune dysfunction (takes a long time to recover/difficult recovery & vaccinations didn’t cover correctly)
  • Easy bruising 
  • Soft stretchy skin with abnormal scarring 
  • CD34+ tumors (surgical removal)
  • Chronic sore throat despite adenoid/tonsil removal
  • Asthma
  • Chest pain worsened upon exertion 
  • Sharp musculoskeletal pains
  • Dizziness (esp after prolonged sitting) aka OI/orthostatic intolerance
  • Tachycardia 
  • Fluctuating appetite 
  • Ineffective local anesthetic 
  • Inability to effectively control body temperature (sleeps with 6 blankets abs a heated throw even in summer)
  • Dystonia (his body will violently shake, almost like a convulsion.. luckily this is rare)

Apparently, this can all be explained by a collagen (COL5A1) mutation. 

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