Bradley

MMA CBl C

Bradley was born August 2, 2012. He was a week over due and was born a healthy 7lbs 12ozs and 20 ½ inches long. My husband and I were so happy to finally hold our beautiful baby boy. It took us over a year and a half of trying to conceive and one miscarriage before we were blessed with Bradley in our lives. I had the best pregnancy and delivery ever. I had absolutely no morning sickness or any major complications. I did have one overnight stay in the hospital at 25 weeks due to placental leaks, but it did not cause any harm to me or Bradley.

Bradley was examined by his pediatrician, Dr. Sanches, shortly after birth and scored a 10 on his APGAR assessment and passed his hearing test as well. I felt so relieved to know that my beautiful baby boy was completely healthy. I started breastfeeding right away and he did great despite him being tongue-tied. We were sent home after the normal 48 hour stay in the hospital and was told to do a follow up in a few days with our pediatrician due to Bradley having a little bit of jaundice. At the follow up, our pediatrician was concerned that Bradley had not reached his birth weight yet. I was told to supplement with formula and continue to breastfeed and come back in a few days. We continued to do the follow ups every two days and Bradley just wasn’t gaining weight. I eventually gave up on breastfeeding and went to 100% formula, but he still wasn’t gaining weight.

In the middle of Bradley not gaining weight, my husband and I were really concerned with his irregular breathing and the way he choked every time he ate. We were told the irregular breathing was completely normal in newborns, but recommended we see a radiologist and a speech therapist to conduct a swallow test to make sure he wasn’t aspirating the formula. The swallow test showed that he was not aspirating, but just hadn’t learn to swallow properly yet and that him being tongue-tied had nothing to do with his swallowing. They recommended we see a surgeon for him being tongue tied because it would become a speech problem later on in life and to start putting rice cereal in every bottle because the thicker the formula the better it went down. At first I followed their recommendations on the rice cereal, but after only 2 days and no changes in the choking I stopped and realized something else was going on, but just didn’t know what. During all the daily doctor visits, we were also going back and forth to the lab to redo Bradley’s newborn screening test because the first test came back abnormal. We were told that it is normal for the results to come back abnormal and that usually the second test will show that everything is normal. Well, the second test came back abnormal as well, so we were told to do a more extensive testing. And when those results came in I will never forget that phone call because it forever changed our lives.

Bradley was exactly 3 weeks old and it was a Thursday evening around 5:30. My husband and I were playing with Bradley and the phone rang, it was Dr. Sanches, our pediatrician. I just knew something was wrong because it was after office hours and the actual doctor is calling me not his nurse and I could hear in his voice something just wasn’t right. He said the results came in and it showed that Bradley had Methylmalonic Acidemia, MMA. He said we needed to get to the Children’s Hospital in New Orleans immediately where the genetics team is waiting on us. My heart just sank and I started crying hysterically and the whole time my husband is staring at me knowing something is wrong, but I just couldn’t get it out to tell him.
​
When we arrived to Children’s they immediately sent us back to do blood work to confirm that he did in fact have MMA and to start treatment immediately. Being that the hospital is over two hours away from our home we did arrive there late and the Geneticist, Dr. Michael Marble, was already gone for the day to discuss the disorder in detail. In the meantime, lots of teams of doctors came in and out to evaluate Bradley throughout the night and they were all shocked to see him so healthy. By the next morning, Bradley was already eating four ounces of formula instead of two and he had stopped choking when he ate as well. It was so crazy how fast the treatment was working. That morning we met with Dr. Michael Marble and he discussed MMA in detail and went over the treatment with us. Bradley’s treatment consists of Hydroxcobalamin IM injections, Levocarnitine, Folic Acid and Betaine. We also met with Dr. Marie Dalme, the dietician, and she went over Bradley’s diet. He drinks Propimex-1 twice a day along with his regular formula. We were sent home that day due to how great Bradley was responding to treatment.

Today, Bradley is almost six months old and very happy and healthy. He is growing so much and all his doctors are pleased with how well he responds to treatment. Since diagnosis we found out the sub type of MMA was CblC. Bradley is in therapy as a preventative measure and as of right now he seems to be right on track as far as development wise. We are so blessed to have Bradley in our lives. He is definitely our little Hero!

by: Jena JGRodriguez@hotmail.com

From the Spring 2013 OAA Newsletter