$175 of $2,000
3 donations

This fundraiser ended on 07/27/11

Create a fundraiser like this

The Guthrie family raising money for there plane tickets for their trip to the 10th Annual Charge Syndrome Conference in Orlando Florida.

Hello we are the Guthrie family from Northumberland PA. We had a son Ian who was born on November 10,2010 . He was 8lbs and 4oz and 21 inches long . He was diganosed with the Charge Syndrome. I bet your wondering what in the world is that . Charge is a genetic condition. this syndrome is specific birth defects and medical problems. Charge is usually a sporadic case with no other members of the family affected. Charge is in about 1-10000 births and is the same in males and females.Recent research has shown that many cases of charge are caused by a new mutation or change in the gene CHD7 . This mutation usually happens for the first time in the person with charge . Its usually not inherited from either parent . Charge is not caused by any known exposures during pregnancy. Charge is an acronym stands for C -Colobomas Ians pupils are shaped like teardrops and his corneaa and retina match and may cause him to not be able to see or even limit his sight H-Heart Ians aorta and PDA are on the opposite side of his body He has a narrowing at the lower part of his aorta. A-Antersia of the choanal (throat)- Ian has a deviated septum which makes it harder for him to breath correctly. His larynx didnt fully develop his muscles in throat are not strong enough to swallow all his feedings he has to be feed by feeding tube. and he has a split uvula . R-Retardation of growth and development- Wont know till he is a little older through growing G -Genito urinary- No diagnosis at present time E-Ears admoralities and hearing loss- Ian has alot of excessive fluid behind his ears. Failed both screenings at the hospital. Dont know if he will hear. Outer ears are underdeveloped causes to believe inner ear also underdeveloped unable to determine hearing. not knowing alot about this syndrome i did alot of research on the internet . they have a foundation in Sand Points New York email they are having a conference this year in orlanda florida and we would like to go their are gonna be many doctors their to answer questions regarding ians condition we are excited to learn as much as we can and with your help we are looking forward to going to the conference
View more

Supporter activity

Login to post a comment
or Login