Cystinosis: one family’s journey with a rare disease

This article originally posted 2-7-2013 on

Terri Schleuder serves on the Executive Board of the non-for-profit organisation, Cystinosis Research Network, where she helps raise awareness of this rare disease. Here, she tells her story about how the introduction of the Orphan Drug Act 1983 changed her life, her son’s life and many other patients’ lives for the better.

My husband and I did not notice the passage of the Orphan Drug Act in 1983. We were new parents immersed in the wonder of our first born; five years later that would change.

Steven, our third son, arrived on February 13, 1988. He weighed 3.63 kg had blond hair, blue eyes and was beautiful.

Between six and nine months of age, Steven’s growth stopped and his appetite became non-existent. What little food he did eat was frequently vomited back. The only thing he seemed to crave was water which he drank constantly. Even so, his lips and tongue always looked dry, and his diapers soaked his clothes and sheets daily. After he was hospitalized for the first time at eleven months old, we learned that Steven was anemic and had several electrolyte abnormalities. This was the beginning of a seven month odyssey with various specialists looking for answers. At eighteen months of age, Steve weighed less than 6.8 kg. He had loose, translucent skin that hung in folds, huge blue eyes that peered through sallow skin, and wispy blond hair that fell out in clumps. He suffered with dehydration, severe anemia, metabolic acidosis, electrolyte abnormalities, severe failure to thrive, and renal failure.

Keep reading the full article at


CRN Newsletter Signup - Popup
  1. Stay up-to-date with the latest information from the Cystinosis Research Network by joining our email list.

  2. First Name
    Invalid Input
  3. Last Name
    Invalid Input
  4. You must enter a valid email.