MCADD

As you may know we met with the Genetic Specialists last Friday and here is a summary of what they told us.

Peyton has MCADD (fatty acid oxidation disorder- she can't break down fat into energy)

MCADD can cause bouts of illness called metabolic crises. Which if not treated can cause breathing problems, seizures and coma (sometimes leading to death). If she ever gets sick or has an infection she will need to be hospitalized.

Treatment: Avoid going a long time without food (she needs to eat every 2 hours)

When she gets older she will be able to go longer between meals and has to be on a low fat, high carbohydrate diet. Lots of fruit, veggies, only lean meat and low-fat dairy foods. No hamburgers, pizza or anything greasy for our baby girl. She is currently taking L-carnitine which is a natural substance that helps body cells make energy and helps the body get rid of harmful wastes.

Carriers: Ben and I are both carriers which means we each have a single non working gene of MCADD that we each gave her. Our brothers and sisters have a 50% chance of being carriers and also may be at risk of having children with MCADD.

More Pictures

What do you think?

More Bad News

Yesterday we got some bad news from Peyton's pediatrician. She told us that Peyton has MCADD (Medium Chain Acyl-CoA Dehydrogenase Deficiency). It is an inherited fatty acid oxidation disorder which means that Peyton cannot breakdown fats for energy. Once her body uses up its primary source of energy the body begins to fail because it cannot make energy from fats. Therfore she must eat every 2 hours day and night because people with MCAD cannot go long without food. Symptoms include: episodes of hypoglycemia, lack of energy, vomiting or seizures. These symptoms can progress very quickly to coma, cardiac arrest, brain damage, or even death in children who are not eating well. MCADD is inherited in a autosomal recessive manner. Which means she inherited two non-working copies of the gene one from each parent (we are so sorry little girl). They have her on medication right now and we are meeting with Genetic Specialists on Friday the 25th. Please keep her in your prayers.

She's HOME

After 9 days in the NICU our baby girl is finally home. We couldn't be happier. She has been such a blessing in our lives and we are so grateful that she is healthy and home with us.

Sweet Angel

Sweet Baby

Update: They are increasing her feedings and are trying to get her to breastfeed which means they need me at the hospital around the clock. So I'm moving in with her. They are letting us hold her more and more each day. Surprisingly- Ben is an awesome diaper changer.

Cutest Baby

Today was a wonderful day. I got to hold her for the FIRST time!!!!!! She is so precious. I love this little girl!