As most parents do, we gave Cole pedialyte for the evening to keep him hydrated. That was not enough for our son to survive. Just 10 hours after Cole indicated an upset stomach, he was dead!
If we'd only known (from a simple blood test at birth), a dextrose IV would have been given until his appetite resumed to normal. This deficiency is so very treatable if detected early in life! These children with MCAD are very healthy with no signs of weakness until it is too late. Please, do not say this is rare and can never happen to you! In most states, this is more common than PKU. Amazingly, MCAD has been traced to misdiagnosis of SIDS due to children slipping into a coma without parents being aware of what is really happening.
WHAT IS MCAD? MCAD (Medium Chain Acyl-Coa dehydrogenase) deficiency is a genetic metabolic disorder in which your body is unable to break down fat when it runs out of its main source of energy, a sugar called glucose.
ARE THERE SIGNS TO LOOK FOR? NO! Children with MCAD are often completely well until they have an illness that causes them not to eat, (such as the flu, ear infections, or colds). Extended fasting should not be allowed to occur.
*OTHER FINDINGS* New studies have shown MCAD may be the cause of 1 out of 100 infant deaths misdiagnosed as SIDS or Reye's Syndrome. Children with MCAD, upon having an episode can stop breathing, have seizures, or their heart will stop, and many die in their sleep.
DIAGNOSIS OF MCAD is very easy! Just a heel prick at birth can detect MCAD (along with 29 other metabolic diseases)! Unfortunately, because this test equipment is so new, not every lab can do this testing. NOT TO WORRY, until the testing is mandatory in your state, you can order a newborn screening kit to take to your doctor for only $25.00 from Baylor University Medical Center, Dallas, TX. What a small price to pay for your child's life!
TREATMENT FOR MCAD: Once diagnosed, it is so very easy to treat. If fasting is unavoidable, MCAD children need IV dextrose immediately until feeding is normal again. Because of this, they may be in the emergency room a bit more than an average child. Also, it is wise to have an MCAD child on a higher carbohydrate diet with lower fat. Some (genetic) specialist recommend a supplement called L-Carnitine which helps them keep from getting low blood sugar when they have infections or don't eat. The L-Carnitine is a wonderful safety net to have until you can get the child to the hospital.
COLE MEADOWS FOUNDATION has been established to provide hospitals with Newborn Screening Kits and information. Contact us here.