CDG Family Network

http://beaker.sanfordburnham.org/2012/02/cause-metabolic-disease/

We have had a sort of running joke with Joel's geneticist about not liking to see her because every time we do she wants to admit him to the hospital for tests.

When Liam was born, January 30th 2004, he was small, but otherwise healthy.  His delivery was without complication and he was seemingly healthy.  There was nothing found in those first newborn exams that let on to any health problems.  We also had another child, a two-year-old daughter Emma, who was developing typically and another reason not to think that anything but the same was in store for Liam.

Kaydence was born on July 2. 2010 in Austin,Texas (USA). She weighed at 6 lbs. 11oz. and my OBGYN thought she was at least 8lbs. for how big I was!! When Kaydence was born she had meconium aspiration where she stools in her amniotic fluid and inhales it through the birth canal. Right when Kaydence came they took her away from me because she was at high risk for pneumonia.

Birth to age 4.5 years

Joel Whitmire McClain

born 6 July 2007; 7lbs. 6 oz.; 20 inches; 41 weeks

no complications during pregnancy or delivery

Congratulations are in order to Dr. Jaak Jaeken for his induction into the Rare Disease Hall of Fame.  Dr. Jaeken was nominated by BOKS, the Belgian organisation for metabolic diseases, as part of the 2010 International Rare Disease Day, February 28.  

Congenital disorders of glycosylation are a large and rapidly expanding group of autosomal recessive inborn errors of metabolism. Most often, they are severe multi-systemic disorders that affect several organs. Currently prenatal diagnosis for this large group of diverse diseases is only possible when the molecular defect is known in the affected individual that first came to medical attention.