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.
10 comments:
She is so beautiful! I love her!
she is so ben! i can't wait to see her in person, i'm sure the pictures don't do her justice:)
...also, good luck with the mcadd(?) her diet seems like one i probably should start ;/
so beautiful. HOW are you skinny again already?! Not fair girl.
I've been out of the blog world for a few weeks and got on only because I started thinking Michelle must have had that baby by now. She's beautiful. Straight from heaven! I'm sorry you've been through so much worry, but atleast they had a diagnosis for her and you can move on with it. We're thinking about you and sweet payton. Keep the updates and pictures coming.
She is so beautiful, and HOW do you not have a pound of baby weight???!!!!
I am so sorry about the medical problems, but I'm so glad it can be kept under control. Good luck with things
That's great that you are able to know so much about what Peyton has and how to treat it. Imagine years back when children would die because they didn't know how to treat them or know what was wrong with them. thank goodness for technology and medical advancements!! LOVE YOU GUYS!! Can't wait to see little Peyton!!
She is freaking TINY and cute.
She is to die for! I am loving all of her pics! She is so adorable and I LOVE LOVE LOVE all her outfits! Baby girls are the best! We are thinking of your family and am so glad they were able to diagnose Payton and find a solution. She is BEAUTIFUL! Hope you are having so much fun lovin on that cute babe!
Congratulations! She is adorable. Hopefully we will see you guys sometime soon.
Hi. My name is April Johnson. I am Annie Scoresby's sister. Our little baby boy is waiting on test results to see if he has VLCADD (Very Long Chain...) While waiting for results, we are supposed to treat him as if he already has it. Which means giving him the same meds as your daughter and also feeding him a special formula. This is such a rare thing, I haven't heard of anyone else having it. Maybe we can chat about it. If you'd like, send me an email: johnsoncasa@gmail.com
Hope your little gal is doing well.
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