My Little Boy with 3-MCC
3-Methylcrotonyl-CoA carboxylase deficiency (3MCC deficiency), also known as 3-Methylcrotonylglycinuria type 1 or BMCC deficiency is an inherited disorder in which the body is unable to process certain proteins properly. People with this disorder have inadequate levels of an enzyme that helps break down proteins containing the amino acid leucine. This condition affects an estimated 1 in 50,000 individuals worldwide and my son has this deficiency.
If you walk up to me on the street and ask me the long name for 3MCC, I couldn't tell you. I can only tell you about our experience.
When Jake was just a few days old, we received a call from the hospital, asking us to come back and have his new born screenings redone. They said occasionally the blood work gets messed up. So, me and baby boy trudged back up to the hospital and had his blood drawn. I wasn't happy about it but I was certain it was just a precaution and there was NO reason to be worried.
Then, a day later, we got a call from his doctors office. They wanted us to come in and explained that one of his new born screenings came back with a positive result and that we would need to come in that very day. I hung up the phone and looked up what they thought might be wrong with my baby. (PKU) Of course, I read the most awful horrible things first. Seizures, brain damage, failure to thrive, etc. and burst into tears, utter and complete pain swept through my body.
We had almost lost our poor baby during delivery and now this! Now, there was something wrong with him? Why had God taken something that was so traumatic days earlier and made everything right resulting in a perfect little baby, only now only to receive these devastating phone calls. I couldn't even take it in so I hit the "denial" button but only after I called my husband at work . He could not understand a single word I said over the phone until I calmed down enough to tell him. Now, I can't imagine how that made his day at work. About most things he's pessimistic and about our children his ever the optimistic. I love him for that.
We then scheduled an immediate appointment with genetics specialist in at the University of Tennessee Genetics Center. With a very numb feeling about the situation, we drove to Knoxville for paper work, blood work, urine samples and counseling. We went home only to return again 2 weeks later for more samples and more counseling. The counseling was for our benefit, to help us understand that if we were to have more children, this could be a reoccurrence .
My poor baby! This is what we had to look forward to according to our doctors. Infants with this disorder appear normal at birth but usually develop signs and symptoms during the first year of life or in early childhood. The characteristic features of this condition, which can range from mild to life-threatening, include feeding difficulties, recurrent episodes of vomiting and diarrhea, excessive tiredness (lethargy), and weak muscle tone (hypotonia). If untreated, this disorder can lead to delayed development, seizures, and coma. Early detection and lifelong management (following a low-protein diet and using appropriate supplements) may prevent many of these complications. In some cases, people with gene mutations that cause 3-methylcrotonyl-CoA carboxylase deficiency never experience any signs or symptoms of the disorder (this last part was HOPE).
On the way home from one of our first few trips, I had a peace sweep over me. The doctors had been having a hard time with this. His levels where significant enough to continue testing and monitoring but they were not high enough to cause alarm. Before this moment, I had been a nervous wreck and in denial at the same time. For the first time in my adult life I was able to lose weight at lighting speed. Stress, no appetite, breastfeeding, stress...no wonder.
Then one day, we took another trip. Jake was now around 4 months old. When we left, we left with a letter in our hands and uncertainty in our hearts. The doctors did not feel further action needed to be taken, Jake was thriving and showing no physical signs of even having 3-MCC. Still, we left with the letter. I was instructed to keep this letter in a safe place and was given several copies. The letter states that Jake has 3-MCC, a description of what it is and what to do for him if his body is ever under any serious stress like high fever which for us means an ER visit at any age.
The only reminder of 3-MCC now, is the letter. It's tucked away in a place that I visit often and occasionally I pull it out and read it. He has never suffered for one single second from this deficiency. Brain damage, seizures, organ failure, are not a part of our world. We are blessed. However, this letter exists like a dark cloud. It's hanging around. I still have a peace. I know our little boy is in God's hands at all times. God works miracles every single day and sometimes, even despite genetics, he works miracles. He does so because he is the maker of all Heaven and Earth and he made my baby's every cell on its molecular level to perfection.
So, now I am at the point in his life where we fill out medical forms for school. Where we fill out registration forms, we have to be open about any conditions our child has that his teachers need to be aware of. How, can I possibly put that he has this condition? Is this truly going to follow him his whole life, will it affect him down the road? Only time will tell, only God knows.