Joshua Clarke

Joshua was born on November 14, 2006, a healthy 7.0 lbs. We had no idea that anything was wrong with him. Our tumultuous journey began at his 6 month well baby visit. He had gained 2 ounces, not grown in length and was completely falling off the growth chart. He was not eating well and did not take to eating solid foods.

We tried supplementing with formula, fortifying his baby foods and nothing worked. He would throw up almost everyday but the one thing we could count on was his unquenchable thirst. No matter how much we would give him, he just wanted more. If we gave him too much, he would throw it all up. He was admitted to the hospital in July of 2007 for dehydration. His hospitalization lasted 4 days and the diagnosis came back as acid reflux and “Genetic Rickets”. We began treating him with medication and quickly saw improvement in his strength. He began crawling as a normal 8 month old. However, his eating did not improve. He continued to gag, even when he wasn’t eating, and throwing up was a daily event. We could feel that something still wasn’t right. At one year of age, Joshua weighed just 13 lbs. The day after his 1st birthday, he was once again admitted to the hospital for dehydration.

Cystinosis

Cystinosis is a rare, incurable metabolic disease that afflicts 500 children and young adults in the United States and only 2,000 worldwide. The amino acid cystine accumulates and crystallizes in cells due to abnormal transport of the cystine. This build up eventually destroys all the body’s organs including the kidneys, liver, muscles, white blood cells, eyes, and central nervous system.