The 4 “C’s” of CHARGE
After receiving some feedback and comments from those of you who faithfully read “Lesson’s” I though I would take some time now and then to give you a little information about the little known genetic disorder called CHARGE Syndrome that Matthew carries as a diagnosis. CHARGE Syndrome is very complex and has many layers…Matthew’s diagnosis was not immediate and was a little complicated to put the pieces together for the geneticist. It took months to finally arrive at this “CHARGE” thing that Theresa and I immediately started to research and gain information. There are tiers to the diagnosis consisting of the “Major”, “Minor” and “Other” features and characteristics of what CHARGE Syndrome really is. The major features, the four “C’s” refer to Colobomas of the eyes, Choanal atresia or stenosis, Cranial Nerve abnormality and Characteristic ear problems that include the outer, the middle, the inner or all three combined. At this point I will refer you to the CHARGE Syndrome Foundation webpage that describes each of the tiers and a little information about each condition as you scroll down the page. About CHARGE Page (link) Be sure to click on the link in the information section for colobomas…The picture on the site is of Matthew’s eyes! The grouping of these 4 “C’s” are very common to CHARGE and relatively rare in other conditions. What can be tricky about diagnosis and treatment is the severity…it can range from very mild to severe. These four “C’s” are the root cause Matthew’s vision and hearing impairment, the reason Matthew is tube-fed as a result of a weak…
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