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.
I pray that the letter is ALL he ever has to show for this deficiency! :)
ReplyDeleteI of course have never heard of this condition. He sure is a cutie!
gail
What a beautiful little baby. Glad you stopped by my blog, it's nice to make new mom friends :)
ReplyDeleteJust became a follower, looks like I could learn some craftiness from you.
God is Awesome, and that is all you can say about this...
ReplyDeleteMy son has 3MCC as well -- It's devastating in the beginning isn't it?! Luckily we have only had one problem and required hospitalization that one time. As you know, this condition sort of weakens their immune system and can cause a simple cold to turn into pneumonia in a heartbeat. My son had an ear infection that spread to every organ in his body. We took that ER letter to the hosptial and they immediately admitted him and hooked him up to IVs. He was 8 months old. His fever spiked to 105...then down to normal 3 days later and we were released. He's now 2 and a half and is one of the healthiest boys I've ever seen. Best of luck!! -Mikki
ReplyDeleteAimee,
ReplyDeleteYour sweet Jake, is in our wonderful Lord's hands and so are you! Your faith is amazing. I love your blog. I love how you share you heart. Keep blogging and I'll keep praying for your sweet son!
I found your blog from googling 3mcc. My second child born 3 months ago had an abnormal newborn screen, but we have since learned that she is not affected, but I am (did not know this before now). Apparently the metabolites passed through the placenta during gestation can cause an abnormal NBS result.
ReplyDeleteIn any case, I have gone my entire life without having any significant medical issues, and the geneticist I spoke to said that they are finding more and more people who are affected due to their children having abnormal screens, showing that it is actually a more common condition than once thought, since many people with the condition never have any problems.
So glad your son is doing well!
My son also has 3 mcc and is a stiving 11 month old boy. Your son sounds like a miracle as mine. Two days after brining him home, we received that very same phone call. The screenings were redone and yet again received the same phone call. We have been fortunate enough also, that he has not suffered any of the possible side effects, symptoms of the defficency. I know what you mean by having that dark cloud hanging about and being a constant wonder if something will happen. I tell people what he has that need to know and look at me crazy, because it is not that easy to explaine without going into a long explanation. Good luck and god bless!!
ReplyDeleteThat is amazing. There are times when he is sick that I still panic and the other day he was complaining about his leg hurting, he does this alot, my husband asked if I thought it could be a symptom of the 3MCC. It just comes up every now and then. I hadn't thought about muscle pain or leg pain as being a symptom. There just seems to be so little known about it.
ReplyDeletemy son has symptoms that are wierd and we are testing for this disease and while researching your blog came up. Thank you for the peace your strength and hope in the God who made every cell in my son has given me.
ReplyDeleteI too have a son with 3mcc. He is now 3 yrs old and thank god have never had a problem. We are now down to yearly visits to have his levels tested. Last time they didn't even bother as there had been no problems. But as you've said, i have that letter tucked away also and always seem to come back and remind myself that he has this condition. I just pray that it never rears it's ugly head. But, at least if it does we are aware and prepared.
ReplyDeleteThank you all for your stories. My baby boy born 2 weeks ago was diagnosed with 3MCC like yours'. It is nice to read some positive stories from folks right now.
ReplyDeleteMy almost 6 year old daughter has 3- MCC. She has no problem with protein but gets sick at a rapid pace. She will be fine at bed time and wake up horribly ill. One night I heard her coughing, almost like croup, and ran in to check on her and she was struggling to breathe. We rushed her to the hospital and the Doctor told me, If I had fallen asleep I would have woken up to a dead child. The night rocked my world and I'm paranoid of being around anyone who has been sick. She also has been diagnosed with asthma. She has also spent a week in the hospital with kidney trouble. She just started school and I had to make it a point that she does have this disorder. I'm glad to hear other children that do have this are doing great.
ReplyDeleteMy son born miss Aug was also diagnosed with 3mcc. They said he didn't need a special diet but he is a crabby baby with gas problems n I'm thinking a special diet might calm his digestive system. he also has extra fluid in his right kidney n may need surgery months down the road. I'm very scared hot the possible surgery mixed with this disorder. Doc said it takes longer for one with disorder to heal. plus they will be doing a test in free weeks in which they have to use Anastacia, n I'm really nervous already. Any suggestions what could help his immune system, his gas problems, or prevention of kidney infections. He had been on antibiotics since birth. I'm kinda freaking out inside.
ReplyDeleteMy 3.5yo has 3mcc and at first the diagnosis was quite scary, and now since we have the information - we are armed in case of an emergency. The hard parts are when he is sick and showing early "crisis" signs (fever, vomiting etc.) and you as a parent don't know what to do - do you err on the side of caution and bring him to the ER or do you wait it out?
ReplyDeleteIf Jakes temperature rises quickly and he is very sick I take him to the ER. They now have on record his condition. We have been about once a year and usually in the spring for some reason. One time he had a mild seizure and it freaked me complete out. I've always wondered if the two were related but I'm thankful he has not had any others. I pray for healing and I do believe that is exactly what we have gotten. We have been so blessed.
ReplyDeleteAfter 4 years of dealing with a child with 3MCC....I have just found this. I am thrilled to see so many parents of children with this disorder. Where we live there are only 2 other cases. I read in a thread above about a child complaining about leg pains....has the child been checked for a Carnitine defiency (sp)? Our son had complained about his legs all the time and was diagnosed with a very low carnitine level which is associated with 3MCC. We just had our 1st "major" crisis this past week and were hospitalized for 3 days. Best wishes to all of you and your precious babies!
ReplyDeleteJake is doing amazing these days. How is your baby?
ReplyDeleteHow is your little boy doing now that he's older?
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