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CARES Foundation Works to Support the Congenital Adrenal Hyperplasia Community

July 3, 2017

(SOURCE)

While the CARES Foundation is completely unknown to many people, there is a small but significant group of the population that heavily relies on the organization.

That group is those affected by CAH — Congenital Adrenal Hyperplasia — a family of rare genetic diseases that can be life-threatening to male and female children and will affect them for the rest of their lives.

The term CAH most often refers to 21-hydroxylase deficiency (21-OHD), the most common form of the disease, which is characterized by an absence of the important 21-hydroxylase enzyme in the body. Without this enzyme, the body’s adrenal glands are unable to produce cortisol, an essential hormone responsible for blood sugar levels, and physical and emotional stress.

“The emotional toll and the feeling of helplessness that this mom had really resonated with me,” Dina Matos, executive director of CARES, said of an exchange with a parent whose child was diagnosed with the disease. “And I realized at that point what an amazing organization this is, and the amount of support we are able to provide these patients.”

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