What started as a peculiar and insatiable thirst for water led to a rare disease diagnosis for a Denver family. Although they weren’t expecting this challenge, they’re ready for the fight.
Nick and Angela Kirchhof first sensed something was off with their daughter Hayden, when she was drinking copious amounts of water.
“She was just so thirsty, she would be so upset and the only thing to calm her down was a ton of water,” said her dad Nick. “We just had this feeling that there was something else going on and I am glad that we stuck with that.”
What is Cystinosis?
Cystinosis is an inherited disorder that leads to the build-up and crystallization of the amino acid, cystine, in cells of the body. If left untreated, this crystallization can cause organ damage, kidney failure, or death.
The general umbrella term of “cystinosis” manifests in three clinical types:
- Nephropathic—The most severe form of cystinosis, cystinosis nephropathic is typically diagnosed in late infancy. Early symptoms include excessive thirst, rickets, corneal crystals (crystallization in the eyes), and renal Faconi syndrome (nutrient loss through the urine).
- Intermediate—Intermediate cystinosis is largely the same as nephropathic cystinosis, but it develops later in a person’s life. Kidney damage and corneal crystals remain primary symptoms.
- Non-nephropathic (Ocular)—Non-nephropathic (or ocular) cystinosis is also characterized by corneal crystals. However, unlike their counterparts, individuals with this type of cystinosis tend to lack other severe symptoms. This absence contributes to the large variance in age of diagnosis.
Currently, only 500 people in the US and 2,000 in the world have been diagnosed with cystinosis
“I was absolutely devastated when I heard this just because she seemed so healthy and so full of life,” said Nick. “It was something that we never thought was going to be a possibility.”
Hayden is waiting to start taking a drug called Procysbi that can slow the amount of cystine building in her organs.
Despite this unexpected obstacle so early into Hayden life, the Kirchhofs are braving the battle ahead.