Just the Facts

So after talking to my sister in law who was visitng last weekend and fielding questions from others over the past few weeks, I realize that many people may realize that Abby has MCAD but do not know what that means. Besides the Grandmas, there are only a handful of people that know many of the details so I thought I would share some of the facts that I know (I am sure there is so much more I don't know but will hopefully learn)
1. It is autosomal recessive. Those of you who do not remember genetics from school, autosomal means that it affects both boys and girls. Recessive means that in order for a child to have it, they get the faulty gene from both parents. Both Jason and I are carriers.
2. Since both of us are carriers, all of our children have a 25% chance of having MCAD, a 50% of being a carrier and a 25% chance of being completely unaffected. We could possibly have 3 more kids, all fine or all have MCAD or any mixture of kids with MCAD and without.
3. Since both of us are carriers, that means there is also a chance that any one of our siblings could also be carriers. The geneticist made sure that all siblings currently live in states that test newborns for MCAD. (Rachel, i'm not sure about Missouri but you guys are moving to Florida before you will have a kid and they do test) The test normally takes a week to get results.
4. It is estimated that one in 50 people with a Northern European heritage is a carrier. Other ethnicities can also be carriers but the percentage isn't as high.
5. The genetic counselor did some math. Abby has a 1% chance of also having an MCAD child.
6. MCAD makes it so her body doesn't properly produce the enzyme to break down medium chain fats for energy so she will mostly rely on carbohydrates for energy.
7. She DOES NOT have a compromised immune system, however if she does get sick with a high fever, vomiting or diarrhea she won't be able to use her fat stores for energy needed to get through the illness thus needing a Dextrose 10 IV.
8. As long as she is fueled properly through food, she is a normal child and can do the things normal children (and adults later in life) can do. Playtime may mean more snacks and longer resting time but she can still play. Some MCAD kids even play sports.
9. When Abby was a newborn she could not go any longer that 3 hours without eating. At this time, she can technically go 8 hours at night without food but still needs to eat frequently during the day. We choose to go 4 hours because there have been cases where a child goes to bed fine, spikes a fever in the middle of the night and become hypoglycemic before morning with bad results.
10. She will eventually be able to go 12 hours at night when well but still need to eat frequent meals throughout the day (5 or 6 small meals or 3 meals and 2 or 3 snacks). When ill, she will most likely need to eat every few hours during the night as well.
11. And the best fact of all!! Children with MCAD who are diagnosed at birth and get proper treatment can live a full, healthy life and do pretty much anything they want!
(Some exceptions, Jason and his brother were talking about Philmont Scout Camp the other day and how fun it was for them. Unfortunately, if we have a boy who has MCAD that type of trip would most likely not be possible. Jason said pretty much all the food they are served there is very high fat. That gives normal boys energy but not MCAD boys)
So sorry for the lesson but I figured I might as well share some of the facts I know since I frequently get questions.