A visit with the specialist

The following Tuesday, we left for Children's Medical Center in Dallas to visit with Dr. Lewis Waber - a metabolic specialist. As we entered the hospital, chills ran down my spine - realizing that my 2 week old infant was at another hospital.

The genetic counselor and the doctor sat down with us and immediately calmed my fears about treating her condition. In a nutshell, here's what I learned:

- Until Caroline is 5 months old, she can not go longer than 3-4 hours without eating (which means she'll never get more than 3 1/2 hours sleep in between feedings)
- At 5 months, she can go 5 hours, 6 months, 6 hours. Up until 1 year, the amount of time she can go increases each month - with the max being 12 hours beginning at 1 year of age.
- At one year (and beyond), we will give her a snack at bed time (crackers and milk, etc), and then breakfast once she's awake.

If/when she gets sick, we make sure she avoids any period of fasting. Measuring blood sugar levels is a not a good indicator, because at the point they are low, she may already be in the middle of a metabolic crisis. Our rule of thumb (once she's a year old) is that if she can't keep down two meals (breakfast and lunch) - then she goes to the ER. Prior to a year, we will have to watch even closer, and quite possibly take her if she goes 4 hours and will not eat due to illness.

They provided us with an emergency protocol letter that indicates she will need 10% intravenous glucose upon arrival to the ER.

Bottom Line: If she eats, she will stay healthy, if she won't eat, she needs glucose.

The reassurance I received at the clinic was that as long as you bring her in at the first sign of a fast (due to illness), she will be fine and can avoid any metabolic episodes.

Regarding the genetics associated with her condition, we learned that she's 1 in 20,000 infants. We also learned that we have a 25% chance of having a second child with MCAD. Our siblings all have a 50% chance of also being a carrier, so it may make sense for each of them to have genetic counseling prior to conceiving - just so they are prepared if their spouse is also a carrier. If Caroline marries a carrier, they will have a 50% chance of having a child with the disorder.

We also learned that Texas has only included the MCAD deficiency on the newborn screen for the past 4 years. Given the fact that my husband and have been married for 9 years, it was a blessing that we didn't have children sooner!

And speaking of blessings, I finally have come to terms with the fact that given everything we know, early detection has been and will be a blessing for Caroline. I must not dwell on why, but focus on how we can keep her well with God's help.