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Saturday 19 September 2009

Could it be linked to cystic fibrosis?

As I continue to do research on Ethan's symptoms, I keep coming across the following diseases: crohn's disease, celiac, chronic pancreatitis, gastric or small bowel resections, fistulas, colitis & biliary obstruction AND CYSTIC FIBROSIS.

Here is an excerpt that just shocked me:

CF is caused by a mutation in the gene cystic fibrosis transmembrane conductance regulator (CFTR). The product of this gene is a chloride ion channel important in creating sweat, digestive juices and mucus. Although most people without CF have two working copies (alleles) of the CFTR gene, only one is needed to prevent cystic fibrosis. CF develops when neither allele can produce a functional CFTR protein. Therefore, CF is considered an autosomal recessive disease.

I have noticed since Ethan was a baby that he just can't seem to sweat and clearly he has issues with digestive issues and more recently sinus issues (assumed it was just allergies). Mind you, he does not have the serious pulmonary issues associated with this condition... but I sure found the info about sweating interesting.

ARGH... that's the scary thing about research... so many symptoms can be common but I literally stopped breathing when I read the comment about sweating. That has always been an issue for Ethan. Keep praying! We'll find the answers, I have no doubt God intends for us to find the answers. Thank you so much for your help!

3 comments:

Anonymous said...

Wow! It sure seems like that little guy is having a time of it. It sounds like you and Duane are doing everything you possibly can. The squeeky wheel gets action, so good for you for continuing to persue answers. I will keep you in my prayers.
Your cousin,
Cindy

Willem Kossen said...

a sweat test can confirm if it,s cf. the concentration of salt in sweat from cf patients is considerably higher. that way you could find out if cf plays a role. if it does, at least you could start treatments.

good luck,
[father of son with cf]

Anonymous said...

My dear sister,

Continue to be open to guidance provided by others, and your heart. You will find the answers you need to help Ethan. You all continue to be in my prayers. I am sending much love your way.

Always,
Diane