Newborn Screening Family Stories

Sarah's Story (MCAD)

We are the parents of Sarah Ann Hall. She is a beautiful, active two year old. She is learning to go potty and do puzzles. She loves to watch Blues Clues and she can talk like the little puppy. She carries a doll all over the house and worries when she loses their bottles or shoes. She loves to swing in the baby swing in the tree in the backyard. She likes to jump in at the pool and play in the water. She is the most precious thing, next to our other children, that we have ever known.

Sarah died on July 30,2000. She died of a condition called Medium Chain Acyl-Co-enzyme A Dehydrogenase Deficiency, one of the many Fatty Oxidation Disorders that makes it impossible for them to use the fatty stores they have for energy. How can we not have known that Sarah had a fatal condition from birth? Sarah had NO symptoms until the morning of her death. She appeared to be a totally normal, healthy child. She had an acute episode brought on by the common cold or flu. We rushed her to the hospital in the ambulance. We, and the doctors, were completely shocked as we watched her slip away from us. Even when she was gone, the autopsy could not give a cause of death until 3 weeks later, when genetics tests were returned, and we finally knew Sarah died from MCAD.

MCAD usually affects children from the age of birth to 2 years [Note from Deb: we are having more and more older children and adults diagnosed now even though they presented earlier but were mis/undiagnosed]. TEST YOUR CHILD!!! I only wish someone had told us to have Sarah tested. Ask your pediatrician and don't take no for an answer. Refer to www.fodsupport.org. The Supplemental or Comprehensive Newborn Screening (CNBS) test for 50+ metabolic disorders may be completed by several Labs - see more info on FOD website under Medical Info/Diagnostic Labs).

We need your help to educate parents about this disease. We would like for you to make parents aware that screening for metabolic disorders is possible. It is being screened for in many other states. Someone must tell parents to screen for these disorders. We would have if we had known it was important. IT IS IMPORTANT! Parents should have it done in the hospital as a newborn. If you know someone who is having a baby, tell them. IT IS IMPORTANT!!!

We need your help to get the laws in the State of Missouri changed to include all metabolic disorders to be included in the ROUTINE COMPREHENSIVE NEWBORN SCREENING. If Sarah would have been screened as a newborn, her MCAD would have been detected and we could have treated her with medication and diet. She could have lived a normal, healthy life IF she would have been tested. The State of Ohio is beginning this screening now and hopes to help almost 1 in 1,200 newborns by detecting these disorders.

We are asking that Doctors recommend Comprehensive Newborn Screening for the 30+ metabolic disorders. It is the RIGHT THING TO DO to advocate to parents to have their child tested. Please do the RIGHT THING beginning today!!!

We are praying for you,
John and Carol Hall
Paris, MO
homesw@mcmsys.com

[This story was written before all the US states mandated that at least 29 disorders be screened for at birth]