Lexie was born with a metabolic disorder called MCADD, Medium Chain acyl CoA Dehydrogenase Deficiency. It falls under something called an FOD, Fatty Acid Oxidation Disorder. The hubby and I had no idea we were both carriers of this disorder and didn't know we passed MCADD to her, until her Newborn Screening results came back at 3 days old. The newborn screening saved her life, it's scary to think she could have died in those 3 days before we found out and we were educated on how to care for our sweet girl. Early on it was a whirlwind of information, labs, testing, doctors, genetic counselors, nutritionists, more information and telling family. I remember coming home from the very long first appointment with the entire medical team and just sobbing while holding her. I was so upset something was wrong with my brand-new baby and she was going to have this lifelong disorder to deal with.
MCADD is a disorder in which your body is unable to break down fats for energy. Normally, fat is broken down into energy by "enzymes." This energy keeps your body running whenever it runs out of its main source of energy, a sugar called glucose. In MCADD, a very important enzyme for breaking down fat, the medium chain acyl coA dehydrogenase enzyme is missing or doesn't work correctly. This means that people with MCADD can't break down fat for energy when they run out of glucose.
This is how I explain it: a normal person will burn what's in their gut for fuel and then they have glucose as the reserve for backup. Lexie will burn what's in her gut and then would crash because she has no back up or reserve. This means she has to eat more often and has a special diet. She can not go past 4 hours during the day without a snack and at night she is allowed to go 11 hours if she drinks her "shake" before bed. Her shake contains cornstarch mixed in with milk, its a slow release sugar which allows her body to slowly keep fuel through out the night allowing her to sleep with out risking a crash. She started her "shake" at 1 years old. When someone with MCADD is a baby, they have different sleep rules. We didn't get much sleep her first year of life because an MCADD baby has to eat much more often than the average infant. She also takes medicine 3 times a day that helps her body work properly. Since she is missing the medium chain enzyme, she cannot break down medium chain fats. If she were to eat something that was a medium chain fat, it would go directly to her organs which in the long run can build up and risk fatty organs or organ failure. Some kids also don't feel well or throw up if they eat too much fat. We were told coconut and avocado are big no no's on the list because they are medium chain fats. She is also on a heart healthy diet, low fat, high carb. Most of her meals are 4 grams of fat or less. She was also diagnosed with Celiac Disease at 3 years old so is gluten free but that has nothing to do with MCADD.
The biggest concern with MCADD aside from diet is when they become sick. Even if its a cold it can become dangerous quickly. An average child is just fine if they don't want to eat or drink when they are sick. With Lexie she needs to keep her fuel going so if she isn't eating or drinking (juice or Gatorade) enough, things can turn into a life-threatening situation quickly. If we can't get enough in her or if she is throwing up she has to go into the ER/Hospital for a special IV to keep her sugar levels up. Now that she is older (7) she understands that if she isn't getting enough food or drink when sick she has to go into the hospital for her special IV. Sometimes this helps because she will try harder to get some fuel in her body, but sometimes we have to go in no matter what. She doesn't like the ER because they always have a really hard time getting the IV in her but she doesn't mind the hospital once we are up in her room. There are a lot of fun things for her to play with and we have been there many times so we have some favorite nurses.
Since my hubby and I are both carriers of the MCADD gene we will have a 1 in 4 chance of any of our children having MCADD. We have added to the family with Lexie's sister Emmie, she is now 4 months old, and Lexie is so thrilled to be a big sis! Since we knew ahead of time this time, we were able to rush the newborn screening results to make sure we knew faster if Emmie had MCADD like her big sis. We also supplemented with formula until my milk came in to make sure she was getting the proper fuel in case she did have MCADD. It was hard to wait to hear if she did have MCADD and nerve wrecking, but we were also confident in our parenting skills if she did indeed have it since we were already parenting one MCADD child. We found out she does not have it. It was a relief and nice to know we could get a little more sleep this time around, but it was also really hard on Lexie. She feels alone a lot in her MCADD journey, and we discuss it on a regular basis. She is much more aware of it all now that she is in 1st grade and sees how she is different than her classmates. Thankfully there are great resources out there to help us all out. There are great support groups, on-line support groups, and get together's with other MCADD people and FOD people. She has met other kids with MCADD and I am sure as she gets older it will be a great resource for her to talk to them about their struggles in life. Each year brings different challenges we have to sort out and work through but she is one tough kid, loves life and is really great at being aware of her health and what she needs to do to take care of herself. I couldn't be more proud of her! Through her MCADD journey she has decided she wants to be a doctor so she can help other kids! If you would like to read more about MCADD and FOD's a fellow MCADD mother wrote a fantastic article about it. It's called The Challenging World of Fatty Oxidation Disorders. I encourage you all to take a look at it and learn more about it! Thanks for reading! Click HERE for the article
