Cystinosis is a rare, inherited, metabolic disease that is characterized by the abnormal accumulation of the amino acid cystine in each cell. The build-up of cystine in the cells slowly and eventually destroys all major organs of the body including the kidneys, liver, eyes, muscles, bone marrow, thyroid and brain. Although medication is available to control some of the symptoms of this insidious disease, Cystinosis remains incurable.


Thursday, March 01, 2007

Our journey begins...


One of the real negatives with his condition is that he has zero appetite and an unquenchable thirst; the combination causes him to vomit. As a result, Holt has lost weight to the point that we (and his doctors) have gotten extremely nervous about his ability to thrive.

Today we learned that Holt will have a gastric tube inserted into his stomach (next week) to enble him to get the nourishment that he so desperately needs. I realize that this sounds drastic and to some degree it is, but this will be (in our minds) be the start of his new journey and will ensure that he gets his daily need with regards to caloric intake.

1 comment:

ahappygirl said...

Hello there, I am 23 years old and I also have Cystinosis. I would like to exchange some contact information with you and try to be of some support. Could you email me please? tahnie@gmail.com