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Hi all~CHARGE syndrome here

Posted by on Mar. 28, 2007 at 12:35 AM
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Hi Thought I would introduce myself, my son & CHARGE syndrome.....My name is Bonnie .  I am a divorced mom, nurse & homeschool teacher to my wonderful little 11 year old son Eddie.  Most people have never heard of CHARGE....many doctors have never heard of it even.....so I thought that I would post the explaination that I posted on my myspace profile about CHARGE.  

WHAT IS CHARGE SYNDROME?
Current mood: thankful
Category: Life

Most people look at my son & immediately realize that he is "different"...Yes, he is different, but also perfect!  Most people never say anything, but a few people do ask....And I love it when they do!  I go into a (usually too long~lol)  explaination of CHARGE syndrome and the specific congenital anomalies that Eddie was born with, his struggles, battles and surgeries to survive and end with how wonderful he is doing & how he has exceeded all expectations!  HE IS SUCH AN INCREDIABLE KID!  If you have any questions....PLEASE ASK~I may talk your leg off....but please ask!  I AM SO PROUD OF MY LITTLE CHARGER!

ABOUT CHARGE

CHARGE syndrome is a recognizable (genetic) pattern of birth defects which occurs in about one in every 9-10,000 births worldwide. It is an extremely complex syndrome, involving extensive medical and physical difficulties that differ from child to child. The vast majority of the time, there is no history of CHARGE syndrome or any other similar conditions in the family. Babies with CHARGE syndrome are often born with life-threatening birth defects, including complex heart defects and breathing problems. They spend many months in the hospital and undergo many surgeries and other treatments. Swallowing and breathing problems make life difficult even when they come home. Most have hearing loss, vision loss, and balance problems which delay their development and communication. All are likely to require medical and educational intervention for many years. Despite these seemingly insurmountable obstacles, children with CHARGE syndrome often far surpass their medical, physical, educational, and social expectations.

Continued research is needed to help us understand the medical and developmental challenges facing individuals with CHARGE. Better understanding will lead the way to interventions, therapies and educational strategies which can help people with CHARGE syndrome overcome many of the obstacles in their lives.

One of the hidden features of CHARGE syndrome is the determination and strong character these children display.

History of the name "CHARGE"

The name "CHARGE" was a clever way (in 1981) to refer to a newly recognized cluster of features seen in a number of children. Over the years, it has become clear that CHARGE is indeed a syndrome and at least one gene causing CHARGE syndrome has been discovered (see below). The letters in CHARGE stand for: Coloboma of the eye, Heart defects, Atresia of the choanae, Retardation of growth and/or development, Genital and/or urinary abnormalities, and Ear abnormalities and deafness. Those features are no longer used in making a diagnosis of CHARGE syndrome, but we're not changing the name.

Clinical Diagnostic Criteria (2005)

Even though a gene for CHARGE syndrome has been discovered, the gene test is very expensive and isn't perfect -only about 2/3 of people with CHARGE have a positive gene test. Therefore, the diagnosis of CHARGE syndrome is still clinical - based on the medical features seen in the child. An evaluation for possible CHARGE syndrome should be made by a medical geneticist who is familiar with CHARGE. The clinical diagnosis is made using a combination of Major and Minor features. Major features are characteristics that are quite common in CHARGE syndrome but relatively rare in other conditions, and are, for the most part, diagnosable in the newborn period. Minor features are characteristics which are also common in CHARGE, but not quite as helpful in distinguishing CHARGE from other syndromes. They either are common in other conditions (e.g. heart defects), harder to diagnose consistently (e.g. typical CHARGE face), or may not be diagnosed until later (e.g. growth deficiency). Finally, there are "Other" features - these may be very important in terms of health and management, but are not very helpful in determining if a child has CHARGE syndrome or something else.

THIS AND MORE INFORMATION ON CHARGE SYNDROME CAN BE FOUND AT   www.chargesyndrome.org

I am so glad that I found cafemom & looking forward to friendship with other moms!
Bonnie

by on Mar. 28, 2007 at 12:35 AM
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Replies (1-3):
luvmy002girls
by Group Owner on Mar. 28, 2007 at 1:17 PM
THANK YOU FOR TELLING US ABOUT YOUR ANGEL!! IF YOU'D LIKE TO SHARE MORE ABOUT EDDIE'S PERSONAL STRUGGLES I WOULD LOVE TO HEAR IT. CHILDREN ARE SO RESILIENT AND AMAZING!! CONGRATULATIONS ON BEING SO OPEN!! I AM THE SAME WAY I LOVE TO TELL PEOPLE ALL ABOUT TURNER SYNDROME!! PEOPLE NEED TO BE INFORMED ABOUT THESES RARE GENETIC DISORDERS THAT OUR CHILDREN FACE!! AGAIN I WOULD LOVE TO KNOW MORE ABOUT EDDIE!!
JESSICA
jenbcobernus
by on Mar. 29, 2007 at 12:12 PM
My son is 13 months and I was just awe struck by your email.  I am new to motherhood and new to all his conditions and like you I have become an expert on them but haven't seen someone as proud, loving and open about their child or their conditions.  You are quite an inspiration.  
nikkole84
by New Member on Sep. 27, 2007 at 10:14 AM
hello. i was so happy to see another parent on here with a child who also has charge syndrome. my son christopher who is 4 was diagnosed with this at the age of 2 1/2. we knew that something was wrong with our son but was getting no answers from our local doctors and for some reason the doctors at the childrens hospital werent corresponding with one another until he wound up in the hospital for a week when he was 2. up until this point the only diagnosis that we had was cleft lip/palate, microphalus, and bilateral mild-profound hearing loss due to incomplete cochlear formation and chronic ear infections. after being in the hospital we found out he also had pda and a stills murmur, reflux, optic nerve hypoplasia(open only 3% thank God) and astigmatism of both eyes, asthma, and other things that we had no idea were a medical condition such as dysplastic ears, prominent forehead, deep set eyes, facial asymmetry, and facial hypotonia. on top of that he was severly developmentaly delayed( at this point he had just recently stopped holding his head off to one side and was holding it up as it should, was just now able to sit without support, and was still only crawling on his back using his head and feet to move him.) and very small for his age. he had problems with inguenal hernias and testicular problems which they did surgery for.there were some things that had happened when he was small ( he would turn purple and stop breathing, and after eating would make these high pitch squeel sound) that our pediatrician just dismissed when brought to his attention and made my husband and  myself feel as though we were crazy. later we found out that he wasnt tolerating his heart condition and was asperating. both of which could have ended very badly. (needless to say he is no longer our doctor.). at this time christopher is doing amazing. he still doesnt talk except for a few words which he mimics, he started walking right before his third birthday and though he still has balance issues, he is doing wonderful with it. he is still tiny (36 inches tall and 29 pounds) one answer we have gotten is that his bone age is delayed. they have checked him for growth hormone issues and has tested negative for it every time. he gets frustrated easily and will bang his head into things or throw himself down while screaming. this is mainly due to the fact that he is amazingly smart and wants things but refuses to sign and doesnt express himself in words. we are working with him on this as always and have begun to see some improvement. i was terrified when we finally got an answer but i have realized no matter how bad it may seem it could always be worse and you should just be thankful that your child is here for you to love.  you mentioned earlier that people look at your son as though he is different. i too have noticed that and the worst part is that children accept christopher the way he is, it has been the adults who treat christopher as though he has some disease they could catch if they even look at him. even some family members treated him this way in the beginning. it is heartbreaking that they couldnt see him for the amazing child he is and be blessed that he is even here. we dont know what the future holds, we take it day by day and thank god that he is even here. i have met a few other people who have children with charge syndrome and read on it and realize how blessed we truely are. things could have been much worse.
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