Isaac's Diagnosis

Our son, Isaac, was born with Metopic Trigonocephaly Craniosynostosis. At the time of his birth, we had no idea that more than a year later, we would discover a very rare chromosomal deletion on the short arm of his ninth chromosome--also called, Alfie Syndrome, 9p minus, or 9p deletion. 

A brief overview of Isaac's symptoms related to his genetic abnormality include:

  • Craniosynostosis
  • Low muscle tone, specifically in his mouth and trunk
  • He is completely g-tube fed
  • Severe oral aversion
  • Sensory Processing Disorder, specifically tactile, auditory and vestibular
  • Speech delay
  • Gross motor delay
  • Chronic constipation
  • Ear tubes due to chronic fluid in ears
  • Severe obstructive sleep apnea with hypoventilation
  • Growth hormone deficiency
His surgeries include:

  • Major Craniofacial Reconstruction (Rainbow Babies and Children's Hospital, Cleveland, Ohio)
  • Ear tubes and adenoidectomy, turbinate reduction (Cleveland Clinic)
  • PEG placement (Cleveland Clinic)
  • Tonsillectomy (Rainbow Babies and Children's Hospital, Cleveland, Ohio)
  • G-tube button, PEG to mini button (Cleveland Clinic)
  • New ear tubes (Rainbow Babies, April 2013)
If you have any questions about Isaac and his diagnosis, or you are the parent of a child with craniosynostosis and/or 9p minus, please feel free to contact me.

Organizations that may be helpful to you:  

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