Meet Hadley

Hadley was diagnosed with cystinosis in April 2012. Cystinosis is a rare, incurable metabolic disease that afflicts 500 children and young adults in the United States and only 2000 worldwide. Cystinosis causes an amino acid, cystine, to accumulate in various organs of the body.

The build-up of cystine in the cells eventually destroys all major organs of the body including the kidneys, liver, eyes, muscles, bone marrow, thyroid and brain. Individuals with cystinosis experience central nervous system complications, poor GI motility, severe muscle weakness, sensitivity to light (photophobia) due to crystals forming in the eye and end-stage renal failure leading to dialysis and kidney transplantation.

About Cystinosis

Cystinosis is a rare, incurable metabolic disease that afflicts 500 children and young adults in the United States and only 2000 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.

There are three clinical forms of cystinosis. Infantile (nephropathic) cystinosis; late-onset cystinosis; and benign cystinosis. Infantile cystinosis is the most severe and the most common type of cystinosis. Children with nephropathic cystinosis appear normal at birth but by 9-10 months of age, have symptoms that include excessive thirst and urination and failure to thrive. Children often appear pale and thin and have short stature. The abnormally high loss of phosphorous in the urine leads to rickets.

Hearts 4 Hadley Board of Directors

Left to right – Amanda Neill, Sara Astorquia, Scott Alexander, Amber Alexander, JJ Astorquia, Becky Alexander, Mike Alexander, Marcu Alexander, Ben Alexander