For those of you new to the Page here is Chases story: Chase is - TopicsExpress



          

For those of you new to the Page here is Chases story: Chase is just the cutest, sweetest 20 month old little boy you could ever meet who was just diagnosed with the life-threatening disease, Cystinosis. Although we were all praying for the test to come back negative, Danielle and Jason received the most devastating news that no parent ever wants to hear, their baby boy will have a life long battle with this awful disease ahead of him. Cystinosis is an orphan disease with about 500 people, mostly children, stricken with the disease in the United States and approximately 2,000 worldwide. Cystinosis is a metabolic disease in which the amino acid cystine gets into the cells, but has no transporter out. Because of the defect in transportation, the cell crystallizes causing early cell death. Cystinosis slowly destroys the organs in the body including the kidneys, liver, eyes, muscles, central nervous system and the brain. With such a rare disease affecting such a small population, research money is scarce to nonexistent. Cystinosis is an autosomal recessive genetic disease which means that both parents are carriers of the abnormal gene that leads to this condition. The parents do not exhibit any of the symptoms of Cystinosis. There is no cure for Cystinosis, the only available treatment is cysteamine. Cysteamine is the only drug that slows the progression of Cystinosis by removing the cystine from the cells. Cysteamine is a cystine depleting agent that helps to lower cystine levels in the cells. In 1994, the new product in a capsule form, called Cystagon was available for use. Unfortunately Cystagon has a very bad taste, smell and is extremely harsh on the stomach. It must be taken every six hours, every day! It also causes crystals to form in the cornea of the eye. Cysteamine eye drops help to dissolve cystine crystals on the cornea. These drops are used every hour of every day while awake to remove the cystine crystals from the cornea. Chase and his family will need all the love and support through these trying times so please send any help, prayers and encouragement!
Posted on: Tue, 05 Nov 2013 13:01:31 +0000

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