Entries in Pseudohypoparathyroidism (1)


Mystery Diagnosis: Albright's Syndrome

Photo Courtesy - Getty Images(DALLAS) -- Friendly and playful, Carter Hearn from Lufkin, Texas, may act like a regular, happy-go-lucky little boy, but he suffers from a rare condition that sets him apart from other children. At just four years old, Carter stands at nearly four-feet tall and weighs 90 pounds, just a couple inches shorter, but nearly twice as heavy, as his six-year-old sister, Kaylie.

His mother, Deena Hearn, said she first noticed her son's abnormal growth when he weighed almost 30 pounds as an infant. Concerned about her son's health, Hearn took Carter to doctor after doctor, but she said physicians often accused her of simply over-feeding the boy and told her to "get him on a diet." Aside from his unusual girth, Carter suffered from other health problems, including a heart murmur, difficulty breathing and bone deposits under his skin that his mother said felt like pebbles.

It wasn't until Hearn said she watched a Discovery Health special three years ago on an Australian child who had a chubby round face and looked just like Carter, that the concerned mother thought they might have solved the mystery of Carter's strange condition. A visit to a physician in Dallas confirmed her suspicions.

"Carter has a syndrome called Albright's Hereditary Osteodystrophy," Hearn explained. "He has what's called pseudohypoparathyroidism, Type Ia."

According to the National Institute of Health, pseudohypoparathyroidism, or Albright's for short, is a very rare genetic disorder -- affecting only one in 20,000 people -- in which the body has trouble responding to the parathyroid hormone. People with this disorder produce the right amount of the hormone, but the body is "resistant" to its effect. The mutated genes are passed down through one parent, or occur through a spontaneous mutation of the egg or sperm.

In Carter's case, a Type Ia condition causes short stature, round face and short hand bones. Those common traits are often why many Albright's children can look uncannily similar.

After receiving the diagnosis, Hearn was referred to the Kennedy Krieger Children's Institute in Baltimore to be evaluated by Dr. Emily Germain-Lee, the leading authority on Albright's. According to Dr. Germain-Lee, one of the most promising treatments for Albright's currently is growth hormone therapy, which another of her patients has been undergoing for the past seven years.

Hearn said she is hoping to get her son started on growth hormone treatments in the next couple of years, but in the meantime, she also hoped doctors will become more aware of Carter's condition and properly diagnosis other kids dealing with the same thing.

Copyright 2010 ABC News Radio

ABC News Radio