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

We took our first couple of road trips with Evangeline here recently. One of them was for GrandBob's and Uncle Bradley's birthday down in the Galveston, the other was to visit family in Midland. It was the first time for many of the family members to see the new baby, so it was a good time for everyone.

I made some changes to the commenting...so it should be easier to leave a comment now on blog posts. At first I had settings selected as if it was open to the world...but since we figured out the invite only thing the protection on the commenting is unnecessary.

Have Fun!

Evey is such a blessing. She has a really good temperament and is very patient with me while I get things figured out. She sleeps really well at night usually 5 and 4 hours at a time so I am pretty rested. She like going for rides in the car and does really well while I run errands.

We have been trying to get on a little bit of a schedule...eating every 3 hours, play time and then sleep time. It is going pretty well for the most part...might go better if I was a little stricter. For play time, she loves story time and singing songs (Itsy Bitsy Spider, Jesus loves me and He's got the whole world in His hands).

Here are some of the latest pictures...

So, our little miss Evey is already ONE MONTH old! I can't believe it. I guess this is what "they" mean when "they" say it goes fast. "They" are pretty smart sometimes. I thought a good summary of the last month would be to review some of the faces Evey makes for us. Some of them make Char laugh so much that she has to try to stop laughing so she doesn't hurt her stomach which is still healing from the cesarean surgery. So what I thought I would do is list some possible thoughts going through her mind or captions for each of the faces. Hope you enjoy.

GrandBob came to see me this weekend! For those of you that don't know, that is my Daddy's Dad and some people call him Big Bob. To me he is GrandBob. It was really good to see him and within 5 minutes I was in his arms. We had fun hanging out and playing games. On Sunday we went to Original Pancake House which is a favorite of my parents.