We are the Jenkins family. Stephen, Ashton, Samuel, and Lars. Samuel and Lars have a rare genetic disease called nephropathic cystinosis. We believe that here will be a cure for this devastating disease. Sam's Hope for a Cure is a registered 501(c)3 organization started by Ashton after Sam was diagnosed. Federal Tax ID #45-2705024. We raise money to support research that will lead to a cure. Every penny raised goes to medical research.
Cystinosis is a rare metabolic disease in which the amino acid cystine gets trapped inside cells because of a defective transporter protein. Cystine crystallizes in the cell, causing cell death. This process slowly destroys the organs in the body, including the kidneys, liver, eyes, muscles, thyroid and brain.
Cystinosis is the most common cause of Fanconi syndrome, a kidney disease. Patients are unable to reabsorb electrolytes and minerals from the urine that is filtered in the kidneys. This results in loss of large volumes of urine, salts, minerals and glucose. The first signs of cystinosis are usually severe dehydration from excessive urination, as well as vomiting and growth failure. Patients also develop severe electrolyte abnormalities, including low potassium, which causes muscle weakness, lethargy and can lead to cardiac arrhythmias and death. Loss of phosphorus in the urine leads to rickets.
After one year of age, cystine crystals develop in the cornea and cause a severe sensitivity to light (photophobia). In time, patients can develop problems such as hypothyroidism, severe muscle wasting and central nervous system complications. These children have normal intelligence, but often have problems with short-term visual memory. Many have poor GI motility.
Without specific treatment, children with cystinosis progress to end-stage kidney failure by an average age of nine years. In the past, this meant death. Today most patients can receive kidney dialysis or transplantation, but even with successful transplantation, the disease continues to destroy other organs.
Sam and Lars take a long list of daily medications in order to slow the progression of the disease.
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