Missing part of Chromosome 22…can be a random genetic mutation…first in the family…or a person that has it has a 50% chance of passing it on to their children. Gives rise to a variety of symptoms, ranging in severity.Symptoms:
Growth, heart, kidney, spine, calcium, feeding, developmental, speech, immune issues. ETC.
Testing/Diagnosis:
FISH test
Treatment:
Needs care by a variety of specialists depending on the particular symptoms (cardiologist, immunologist, speech-language pathologist, feeding therapist, geneticist, ETC).
Resources:
Seattle Children’s Hospital, Children’s Hospital of Philadelphia, ETC.
Personal Story:
Tetralogy of Fallot (Congenital Heart Defect), Speech delay/articulation issues, Aspiration of regular liquids (on thickened feeds), Tooth decay.
Contributed by MOM Alycia
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