What is Hunter's Syndrome?
"It is a very rare inherited genetic disorder caused by a missing or malfunctioning enzyme (approx 1 in 100,000 to 1 in 170,000 males are affected).
Because the body doesn't have enough of the enzyme to break down certain complex sugar molecules, the molecules build up in harmful amounts. This build up causes permanent, progressive damage affecting appearance, mental development, organ function, and physical abilities.
It mainly occurs in boys, although very rarely it has been observed in girls. There is no cure. Treatment involves management of symptoms and complications. Signs and Symptoms may include: an enlarged head (macrocephaly), thickening of the lips, protruding tongue, broad nose and flared nostrils, deep hoarse voice, abnormal bone size or shape and other skeletal irregularities, a distended abdomen as a result of enlarged internal organs, diarrhea, white skin growths that resemble pebbles, joint stiffness, aggressive behavior, stunted growth, reoccurring ear and respiratory infections and delayed development such as late walking or talking.
How do they manage his symptoms & complications? Can you describe his treatment?
Each week Aiden receives an IV Infusion Enzyme Replacement Therapy aka "Elaprase." This helps keep some of the physical symptoms at bay. However, since it does not cross the blood brain barrier (BBB), neurological regression is bound to appear. Hunter syndrome boys and their parents are waiting for the arrival of a medication that will be able to cross the BBB to relieve these symptoms.
What does Aiden enjoy in life?
Aiden loves anything Disney. That can be movies, cartoons on his iPad, TV, animated Disney toys, his favorite being Mickey Mouse. He will sit beautifully for Disney themed shows such as Disney on Ice and the short shows at the Disney Theme Park at Disney World in Orlando. He loves books of all kinds and loves to be read to!
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