Wish comes true for Newtonville youth

-A A +A
By Vince Luecke

NEWTONVILLE – Corey Richards looks like an all-American boy, bubbly and sometimes fidgety. He shakes your hand dressed in jeans with dirty knees and is quick to flash a big grin that almost reaches from ear to ear.

Corey, a 7-year-old second-grader at Chrisney Elementary School, suffers from a metabolic disorder that keeps his body from being able to break down certain amino acids, causing them to build up in his blood to the point where they become toxic.

“It becomes a poison in his system,” the boy’s mother, Jennifer Richards, said.

The disorder carries an odd name, Maple Syrup Urine Disease, because sufferers’ urine sometimes has the odor of burnt sugar or maple syrup. It’s a rare condition, striking only one in about 225,000 people, but can cause mental retardation, physical disabilities and even death.

Corey was diagnosed at 13 months, after the disease had caused some damage to his brain. He suffered seizures shortly after birth and would cry often and experience what doctors said were hallucinations.

Corey was fortunate not to have more serious problems, thanks in part to the mild nature of his case, but he continues to deal with the effects.

Corey’s mom watches his diet carefully, giving him low-protein foods and custom foods that provide nutrients and amino acids except the three, leucine, isoluecine and valine, those with MSUD have difficulty processing. Those three amino acids are added to his diet but only in controlled amounts to avoid creating toxicity. Thus, Corey eats specially made cheeses, peanut butter and bread. “There’s even a special ice cream,” grandmother Barbara Lane said.

Ordinary childhood illnesses also pose major problems since Corey dehydrates quickly. His blood is tested each month for levels of the amino acids. Sudden imbalances can be life-threatening and require immediate hospitalization.

One of Corey’s physicians recommended him for the Make a Wish Foundation, a program that grants wishes to children facing serious challenges.

Corey wasn’t too wild about taking a trip so a local Make A Wish group presented him with a shopping trip this summer to Evansville. A long white limousine swept him, mom, grandma and a cousin, Tiffany James, to various stores, where he picked up a few toys, including a Huffy Green Machine, a trampoline and computer and to the envy of some boys, a small bow-and-arrow and BB gun.

To top it all of, the group enjoyed  lunch in Evansville.

“He had a fantastic time,” his mom said.

Corey practices spelling words on the computer and his mom is looking forward to a year’s Internet connection from Perry–Spencer Communications, part of the gift to her son.

Access to the Internet will allow Jennifer to join support groups for MSUD. With the disease so rare, it’s difficult to interact in person with parents of other children with the condition. However, online groups allow parents of MSUD-impacted children to share notes and vent their frustrations, regardless of where they live.

“Just having someone to listen to you is worth a lot,” Jennifer said.

Some states automatically screen for MSUD as part of routine tests of infants but some types of the disease aren’t always detected. Many families affected by the disease are pushing for newborn screening programs.