How do you respond when your child/grandchild is diagnosed with what is called an "orphan" disease, one that affects fewer than 200,00 people, or worse yet, one that affects only 2,000 people in the world - and there is no known cure?
That is the news given to members Jim and Karen Gowan and their immediate family some time ago when Grandson Caleb, then only 6 years old, was diagnosed with Cystinosis. Caleb's diagnosis was considered late-onset, as most patients have symptoms as babies or infants. He would suffer from what seemed to be a stomach flu, but wouldn't recover. After being hospitalized with dehydration, nausea, vomiting, and low potassium, a pediatrician suspected Cystinosis, and it was later confirmed.
Cystinosis causes the amino acid cystine to accumulate in the body's cells. Without going into great detail on the specifics, just know that the cystine content in cells will be 50 to 100 times greater than normal, slowly damaging organs including kidneys, liver, throid gland, eyes, muscles and brain.
The cause is genetic, each parent a carrier of the abnormal gene that leads to the condition, although neither will exhibit the symptoms. Genetic and stem cell therapy research are thus one of several focuses by the Cystinosis Research Foundation.
Clearly the consequence is severe, but given the limited spread of the disease, research funds are almost non-existent. Thus, the fund-raiser recently held at Spirit of Hope was designed to go directly to the Foundation.
Watch our blog for more on this story, to be presented in the next several days: Caleb's Story, the impact on Jim and Karen Gowan, and the outreach of Spirit of Hope with member support for the Gowans. It's a story that shows a commitment to one of our core values, "We hunger to serve and respond to those in need."
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