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Alaskan Boy is Considered to be the Only Patient in State with Menkes

December 4, 2013

November is Menkes Awareness Month in Alaska. However, even though the disease affects thousands of children across the country each year, there is only one known person with Menkes disease in Alaska, and his name is Reyes Aliva of Anchorage. What makes Reyes’ and the Aliva family’s story so heartbreaking is that Reyes will only be turning two years old in December.

Menkes disease is a rare and devastating genetic disorder which affects the metabolism of copper in the human body and deprives the brain and other tissues of this essential mineral. Menkes typically begins in infancy and often accelerates within two to three months. Symptoms include weakened muscles, seizures, coarse or brittle hair, irritability, eating difficulties, low body temperatures, pale skin pigmentation, urinary tract infections and respiratory difficulties.

These symptoms impair physical growth and delay the development of essential mental developmental skills. Weakened bones often result in fractures, and the deterioration of the central nervous system associated with Menkes may lead to arteries becoming ruptured, blocked, or destroyed over time, which inevitably leads to brain degeneration. The disease affects one in every 100,000 newborns.

Read more at the original source.

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