Cystinosis is an extremely rare metabolic disease, affecting only 500 children and young adults in the United States and only 2,000 people worldwide. The disease disrupts the normal function of the body's cells and causes an amino acid called cystine to accumulate to dangerous levels in the lysosomes of the cells. The disease first impacts the kidneys resulting in a condition known as renal tubular acidosis (RTA or Fanconi syndrome). While the kidney's are the most susceptible, cystinosis also impacts the eyes with later impacts to the liver, thyroid gland, muscles and central nervous system. While there is treatment that can slow the progression of the disease, there is no cure for cystinosis. Most children with cystinosis require a kidney transplant in their teens.
Despite numerous visits to various medical specialists for over a year, Brooke was not diagnosed until 16 months of age. In Brooke's case her kidney dysfunction has caused poor growth and a degenerative bone condition called hypophosphatemic rickets. Brooke currently takes 22 doses of different medications around the clock, routinely sees several medical specialists and requires routine lab work.
The CRF is dedicated to finding improved treatment and a cure for cystinosis. During the past 12 years the CRF has raised over $39 million that has funded research which has improved the lives of people living with cystinosis and brought a cure within sight.
The CRN advocates for research, and provides family assistance and education for the public and medical community about Cystinosis.