Victoria, 7 months
MMA Cbl B
Victoria was born on November 7th of 2012. We live in Tacoma, Washington; it’s about 40 minutes south of Seattle. Brandon and I have been married for almost 8 years and Victoria is our first/only child. We experienced two miscarriages before we welcomed V (as we call her) into this world. The day she born was amazing, she was a perfect little combination of Brandon and I. Once home, we were enjoying being new parents until she was one week old and I got a call from her pediatrician. He didn’t want to alarm us but he said that she tested positive for a Metabolic Disorder on her newborn screen. “A what???’.. I was so confused and upset at the same time. After a healthy pregnancy and uncomplicated birth, it didn’t dawn on us that the test from the hospital would come back with any possible illnesses. V’s pediatrician wanted us to come to his office right away to discuss.
After we arrived as his office, he handed us a print out about Metabolic Disorders, specifically Methylmalonic Academia or MMA. He said he didn’t know a ton of information as they had no patients with this disorder. The handout said that MMA was an inherited disease that doesn’t allow V to break down protein like a normal person. He said he was going to put us in touch with a Geneticist at Mary Bridge (our children’s hospital in Tacoma). Before I heard from Dr. Raff, I researched MMA and completely freaked myself out. We had no idea about her specific case but I couldn’t help but get all worked up from reading other families’ stories. Dr. Raff called and said we need to start her on L- carnitine to help break down her proteins that she wasn’t able to process. We had a face to face meeting the next week and he was able to provide us with a ton of answers and support. We also met with a genetic counselor and a nutritionist to speak about V's health and her future prognosis. For her to have the disorder, Brandon and I both have to be carriers of the mutated gene. We had genetic testing done in December so we could pinpoint exactly which gene is mutated. Victoria has CblB ,Cobalamin B deficiency. All three of us had DNA testing as well to pinpoint the gene that was mutated as well as make sure there was nothing else going on. They did find another gene mutation but it’s benign.
While most new moms spent time at home with their baby, I spent the first three months running to the Mary Bridge Children's Center for checkups that included B12 shots (2x a week) and blood draws. I was exclusively breastfeeding but due to V’ slightly elevated Ammonia levels we had to start her on special formula. We have changed the recipe a few times due to the results of lab work but overall she is responding great to the food and medicine. Since going back to work in February, I have started doing her B12 shots at home. I work from home and I love that it enables me to monitor her daily medicine and formula intake. She is now 7 months old and doing really well. They believe her case is mild but every child is different so the monthly blood works tells us what we need to adjust. We are looking forward to starting swimming lessons in a few weeks and we just love her daily development.
Alison and Brandon
From the Summer 2013 OAA Newsletter