MCAD Momma

MCAD Momma

When I was thinking about writing again on a blog, one of the main reasons I wanted to write had nothing to do with food. I wanted to write a little bit about Lucy's story and write about Mike and my stresses as parents of a baby with MCAD. Part of the reason I want to write about this is I feel I didn't, and still don't, have a place to go to seek advice. Even our doctor didn't have answers or know what to expect. Don't get me wrong, we have a fabulous doctor at Riley and Lucy is doing wonderfully. It is just difficult when you go to your monthly pediatrician appointment and they are giving you advice, and then telling you not to follow it because they aren't sure for "our case". I guess it is harder to explain, and easier to start at the beginning. My hope is not to complain because we are blessed! Lucy is fantastic and I wouldn't change a thing about her! Our normal pediatrician is fantastic and has been doing her own research for us. My main goal is for other moms and dads who are out there like us, that they may know that there are others dealing with this newly tested deficiency.

*I apologize ahead of time for the length of this post. This is for other MCAD parents out there or anyone interested in our story. 

A week after Lucy was born, Mike had gone back to work and I was at my mom's taking advantage of a sleepy newborn relaxing. I got a phone call from our pediatrician and she was being VERY friendly. I had only met her once before, and she was calling to let me know that the "blood" test had come back positive. I was confused, "What blood test?", "Positive for what?" She kept saying, "You just need to make sure Lucy eats." Thoughts raced through my mind, "I am feeding her! She's a newborn. All she does is eat!" I instantly put the doctor on speaker so my mom could listen,  I was on the verge of hysterics. She told us that she was sending us to Riley and they had already made an appointment for us for the next week. She told us it was called MCAD, and that it could have been a false positive so we had to get more blood tests. She was so kind on the phone, to the point it scared me more. I wanted to know Is she going to die? Is she going to be disabled? How can my perfect 7 pound baby girl have a positive test result. 
After the tears dried some, my mom and I got on the computer and started researching MCAD. (This was after a hysterical voice message I left for my husband at work.) Researching was probably one of the worst things I could have done. Instantly information started popping up about comas, death, liver failure, and seizures. MCAD is short for Medium Chain Acyl-Coenzyme Dehydrogenase deficiency (or disorder depending on who you speak with). Basically Mike and I were both carriers for a MCAD gene, so we had a 25% chance of having a baby with it, and we did. We will have a 25% chance with every pregnancy. Both parents have to have the gene to have a baby with it. You can read more about MCAD here. My family prayed a lot, and we endured a time of waiting until our Riley appointment, where we would get more information on MCAD.  Lucy couldn't break down Medium Chain Fats. What is a medium chain fat? I had to learn a lot. One thing we knew for sure, Lucy needed to eat every 4 hours. Lucy was eating every hour at this point so it didn't seem difficult, other than Mike and I were afraid to sleep just in case, so we set alarms and endured a long week of waiting. Fast forward to our Riley appointment where we met our doctor, who is a geneticist, and he is awesome! My mom joined Mike and I on our first trip to Riley, as I was physically ill thinking about what information may be coming; Mike and I agreed we wanted more ears for listening. Our fears were instantly relieved as the doctor went on to tell us out of all the metabolism disorders out there, this was the one you would want as far as being able to manage it. He also told us that Lucy should grow up to live a long healthy life, as long as she eats. 

Main Things We Learned:

From newborn until 6 months she had to eat every 4 hours, from 6 months to a year she will have to eat every 6 hours, and we are HOPEFUL that we can go 8 hours when she turns a year old. 

 Mike and I set alarms every night. 

We also give Lucy carnotine 3 times a day to help her body rid the extra fat that may have built up in her system. 

She needs to eat a low fat diet. 

If she gets any kind of stomach bug, that is BAD and we may have to take her to the hospital to get an IV. 

She won't ever be able to fast for long periods of time. 

As an adult she will be able to go 12 to 14 hours without food (hopefully not by choice!). 

We keep Gatorade in the house and in our cars just in case Lucy gets ill. We give her a little in a syringe, and if she keeps the gatorade down we don't have to rush to the ER.

We have had a few scares with Lucy getting sick or her refusing to eat because of teething. After giving her a little gatorade we have avoided hospitals so far! When she refuses to eat, it is very extremely stressful, especially if we are at the 6 hour mark. We pray A LOT, and we try nursing, bottles, and if we have to the gatorade. 

We do have a letter from Riley that explains what MCAD is and what the hospitals need to do in case of an ER visit. We keep copies of this in our cars, and digital copies on our phones.  Because this is somewhat new to the newborn screening, many people don't know much about this or how to treat it. 

The Fatty Oxidation Disorder website has been helpful. You can find it here. 

We did find out Lucy has the "Milder" mutation of the MCAD gene. This is good news. Also we have been very lucky and blessed that we haven't had any complications with her deficiency. My goal for this post was to be helpful for all of those out there looking for SOME kind of information on MCAD. I know we are very lucky that our hospital tests for MCAD, as 1% of SIDS deaths were caused by this. We don't know what the future brings, but I pray this is encouraging to parents out there seeking help. 

Thanks for Reading, 

Sarah