Our Family

In January of 2007, Texas began the expanded newborn screening tests. Evangeline’s test came back abnormal so we went to see a geneticist for further testing…same results. She was diagnosed with MCAD Deficiency (medium-chain acyl-coenzyme A dehydrogenase deficiency).

Friday 8/24 we met with a geneticist who specializes in metabolic disorders at Cooks Children’s in Ft. Worth, she also has a nutritionist on staff that met with us. Not sure what I was expecting from this meeting, but I was impressed. They presented us with binder of information and resources and there was an agenda for the meeting.

MCAD is an autosomal recessive disorder of beta-oxidation of fatty acids, which occurs in approximately 1 in 20,000 live births. This is genetic…James and I are both carriers for the recessive gene…so she had a 25% chance of getting both recessive genes. One of each of our parents passed us the recessive gene and so on and so forth.

Basically, it is very difficult for her to processes medium chain fats into energy. To help her with this, she will supplement her diet the rest of her life with L-Carnitine. She will basically have a normal life and shouldn’t have to avoid any activities or foods or anything. She just will overall need to eat a little healthier diet and she will need to make sure she doesn’t go very long without food. When your body goes without food for a certain number of hours, it shifts mode into using stored energy (fats) for energy. Since she has difficulty converting this type of stored energy into glucose, her body would be in a situation where her brain doesn’t have enough to keep functioning.

Websites

http://www.fodsupport.org/mcad.htm

http://www.emedicine.com/ped/topic1392.htm