Parenting

Federal committee votes to add the enzyme deficiency disorder to the list of recommended conditions for which states screen newborns

posted on May 17, 2013 - 2:45pm
The Discretionary Advisory Committee on Heritable Disorders in Newborns and Children (DACHDNC) today voted to add Pompe disease (acid maltase deficiency) to a list of diseases that it recommends states screen for in newborns.

Federal committee votes to add the enzyme deficiency disorder to the list of recommended conditions for which states screen newborns

posted on May 17, 2013 - 2:45pm
The Discretionary Advisory Committee on Heritable Disorders in Newborns and Children (DACHDNC) today voted to add Pompe disease (acid maltase deficiency) to a list of diseases that it recommends states screen for in newborns.

Beth and Dan Gore have a most extraordinary family. Over the past dozen years, the Brandon, Fla., couple has adopted six children with disabilities, the youngest being Manny, a 3-year-old with congenital muscular dystrophy.

posted on January 7, 2013 - 9:15am
Quest Vol. 20, No. 1
Meet Manny. He's one of six children with disabilities adopted by Beth and Dan Gore of Brandon, Fla. Three-year-old Manny — who has merosin-deficient congenital muscular dystrophy and has been in and out of the hospital due to gastrointestinal, respiratory and cardiac issues — is the subject of Beth’s fifth published children’s book, Mighty Manny.

Parents of children born in the United States (with or without muscle disease) are encouraged to take a survey about their experiences with newborn screening

posted on August 2, 2012 - 2:07pm
MDA is conducting a survey designed to assess the experiences of parents in the United States whose babies underwent newborn screening at the time of birth, with an eye toward the future possibility of newborn screening tests being recommended for certain neuromuscular diseases in which therapy development is advancing rapidly.

As your child's needs change, so will his or her school experience

posted on July 1, 2012 - 3:03pm
QUEST Vol. 19, No. 3
No matter what grade your child is about to enter this fall, you will have all the concerns of every parent — and a whole lot more because of your child’s neuromuscular disease. There are ways to make the transition to a new school year smoother — and MDA can help. Getting started Before the school year starts, make an appointment to visit your child’s new teacher and scope out the school. Talk...

Students hop to help fight muscle disease, while learning core values of awareness, acceptance and assistance

posted on April 9, 2012 - 12:02pm
QUEST Vol. 19, No. 2
Hopping isn’t just for bunnies. Each year thousands of preschools, day care centers and elementary schools across the country are taken over by swarms of hopping students, all doing their part to help children with neuromuscular disease.

Life-threatening complications at birth and progress in early childhood characterize congenital MMD1

posted on April 9, 2012 - 11:26am
QUEST Vol. 19, No. 2
Concern about Cody Beam started right away. "About 12 minutes after he was born, he quit breathing while my husband was holding him," recalls Cody’s mother, Tina Beam, of Arlington, Wash. Cody, born at Providence Regional Medical Center in Everett, Wash., was "very floppy and couldn't swallow," Tina recalls. He was whisked away to the neonatal intensive care unit, where he was placed on a...
posted on April 9, 2012 - 11:15am
QUEST Vol. 19, No. 2
Ron Hayes didn't get a diagnosis of type 1 myotonic dystrophy (MMD1 or DM1) until he was 54, long after he had enjoyed academic and athletic success in high school and college, had earned a master's degree in public health, had married and had children, and had established himself in a career.