Asher's Diagnosis & Symptoms

 

Diagnosis

Asher was genetically diagnosed with CHARGE Syndrome around 1 month old while still in Cardiac Critical Care.  It was suspected early on based on his heart defect of Interrupted Aortic Arch Type B, there are only a few Syndromes where this defect presents itself, CHARGE being one of them.
The genetic testing showed he had a mutation on his CDH7 gene.  Jesse & I were tested a couple of months later and the test showed that we do not carry the mutation.

Symptoms

It was several months after Asher's diagnosis that all of the specialists involved were able to determine the list of ways Asher was affected by CHARGE.

This is an extensive list of the symptoms (or CHARGE symptoms that are not present) that Asher presented with as they relate to the CHARGE acronym, some have resolved over the last 1.5 years, either spontaneously or through intervention.

  • Coloboma: 
    • NOT PRESENT

  • Heart Defects and Heart Conditions: 
    • Interrupted Aortic Arch Type B (Repaired at 4 days old)
    • Aortic Valve Stenosis (Repaired with the Ross Partial Kono Procedure at 5 months old)
    • AET - Atrial Ectopic Tachycardia (Medically managed with Sotolol and Flecainide, now only Flecainide)
    • ASD (Repaired at 4 days old and then blew open during a cardiac arrest, healed on its own over time)
    • 2 Cardiac Arrests (4 days old, 5 months old caused from pulmonary hypertension- both in Critical Care post surgery.

  • Choanal Atrestia or Stenosis: 
    • Right Side Choanal Stenosis 
    • nasal passage is not completely closed, but very narrow
    • causes a build up of mucous and then also a constant runny nose on the right side
    • To be repaired September 2012

  • Retardation of Growth or Development:
    • Growth is delayed - sitting around 3% on the growth chart, hasn't dropped off the chart or fallen below his own curve.  Going up slowly but following his own curve nicely, with proportionate growth in height, weight, and head circumference.
    • Developmental delays include(d):
      • Head/neck control - between 9-10 months
      • Sitting - 12 months unassisted
      • Pointing to communicate - 12 months
      • Crawling - still not crawling and doesn't like being on his tummy
      • Scoots on his bottom - 16 months
      • Walking - assisted 14 months to present
      • Self Feeding Purees - 20 months
      • Communication - signs 12+ signs at 20 months, 2 or 3 words at 21 months

  • Genital/Urinary Abnormalities:
    • Nephrocalcinosis - Calcium deposits in kidneys (Resolved around 10 months of age. Was thought to be caused by excessive use of diuretics post cardiac surgeries.
    • Bilateral Reflux (Grade 1 & Grade 3), 2 UTI's - Daily antibiotic to prevent Urinary Tract Infections, 2nd VCUG scan November 2012 to check reflux grade at 2 yrs. of age.
    • Reflux caused by tilted urethra (scope done in September 2011 showed no blockage)
    • Smaller Penis (Micropenis) possibility that it will lead to a delay or absence in puberty.

  • Ears:
    • Vestibular anomalies - the extent of how these anomalies will affect balance is still unknown, it could be a source for the delay in walking.
    • Lower set ears with visible differences in the "look" of the ear.
    • Hearing loss, moderate to severe in the left, moderate in the left - Right hearing aid at 17 months and left hearing aid at 19 months.   ABR test while sedated showed Left "profoundly deaf" and severe loss in the right.  Once in the "booth" for tests it showed much more positive results and the hearing aids are making a noticable difference.
    • Bilateral tubes to drain excess fluid - September 2011.
    • No ear infections to date.
OTHER MAJOR/MINOR CHARGE FEATURES PRESENT:

  • Cranial Nerve Anomalies: 
    • Swallowing difficulties:
      • Modified Barium swallow every 6 months since 2 months old
      • Aspirates on thin liquids
      • NG tube in hospital until 3 months old with some work on oral feed
      • Can tolerate thick liquids with Y cut nipple on bottle until 13 months
      • Can tolerate half thick liquids with Y cut nipple on bottle to present
      • Eats purees with no sign of aspiration (thick or thin purees)
      • Avoids any kind of texture or chunks in purees
      • Slowly mouthing solids with an increased in saliva during this oral development - 19 months to present
    • Right side Facial Palsy:
      • From birth
      • Eye did not close and needed drops every 4 hrs to lubricate
      • 4 months old it switched sides to left side facial palsy
      • Palsy stayed on left side for 2 weeks and then spontaneously resolved
      • Only explanation that was given was palsy was possibly caused by vascular issues related to cardiac condition
  • Submucous Cleft Palate:
    • No thickened fluid goes up into the nasal passage
    • Possible repair after 3 or 4 yrs old depending on speech development and air movement while speaking.
    • As of now the thought it he won't need a repair
  • Hypotonia:
    • Low Muscle tone present and noticed in upper body and legs
  • Sloping Shoulders
  • Hockey Stick Palmar Crease (on hands)


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