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:  

CAAPS KIDS - Craniosynostosis and Positional Plagiocephaly Support 

9p minus Network

Blenderized diet

Feeding Tube Awareness

***2021 Update: Isaac had his g-tube removed three years ago and eats pureed food independently. He is an active fourth grader who runs around, loves to play catch, and has overcome many of the things he struggled with when I was writing in this space regularly. He does still have sleep apnea and sleeps beautifully with a CPAP every night.