Madison - Emory genetics lab

Madison in her braided pigtails is a common thing to see in our household. Not only does she look cute, but she loves having longer hair. Me, not so much.

Madison and Mike visited the Emory Genetics Lab in Decatur, GA today. They spoke with a nurse, then a metabolic nutritionist and then finally to the genetic doctor. The doctor is fairly sure she has a urea cycle disorder, but at this point it is just a guess as to which type. She guessed that it was OTC which is one of the most common types. Now the next step is to monitor her eating to make sure that she is getting enough protein for cell production and growth, while trying to see what proteins her body rejects. For example, she gets sick after eating a lot of chicken or beef. She does okay with eggs, Boost drinks, and ham. We feed her Z-bars which have 5 grams of protein and other healthy stuff. All of our kids actually like these and they don't have a lot of sugar.

The metabolic nutritionist also noted that Madison's brittle hair and rapid change in hair color might be due to low zinc levels. That makes sense because zinc is usually found in meats. With extra calories from 2 Boost drinks a day, she has gained 3 1/2 pounds the last 6 weeks and a shoe size. She is in the 10th percentage for weight and height (got the height deficiency from her mom.)

At this point Emory will petition the insurance company by sending them a notice of medical necessity to do genetic testing. Since it is so expensive, insurance companies make it difficult to get "approved" for testing. They did say they will NOT do a liver biopsy at this point. They are hoping to get her in to do more labs within 30 - 45 days. Then it takes 4 weeks to get results. They are looking for which gene is mutated. If it is inconclusive, they will test Mike and I and possibly the other children. Since our boys haven't shown any signs yet and it is carried by the X chromosome, I want to know if I or Kailyn are carriers and could exhibit symptoms down the road, or Kailyn could pass this on to her children someday. All good information to know. This also makes her Epstein-Barr mono virus come and go. Some days she looks so drained for every day activities. For now she is in good spirits and is looking healthier. She is smiling and starting to understand the need for all the doctor visits.

I know that she is in good hands, that we are not in Georgia for only Mike's job. I do NOT believe in coincidences. The Lord's hand is in our lives everywhere, we just have to look for it.