Avery

Malonic Acidemia

About two weeks after we brought our new daughter Avery home from the hospital we received a call from our pediatrician’s office telling us that the state department of health had contacted them and said that something had come back “abnormal” on the newborn screening panel and we needed to take her back to the hospital for additional testing. Initially we were not too concerned about the phone call. During our hospital stay we’d had some issues with Avery’s blood sugar level stabilizing and a mild case of jaundice so we had already been required to make a couple of quick visits back to the hospital for blood draws – all very routine stuff. We assumed this was simply more of the same. I can vividly remember sitting with my husband at the check-in desk while the receptionist got on the phone to call back and figure out exactly what we needed to do. Apparently there had been some kind of a mix-up and we were not on their list of appointments coming for the day. I was in the middle of laughing at a story my husband was telling as we waited when I heard the receptionist, still speaking into the phone, say strange things like “genetic testing” and “biochemical markers.” The smile immediately dropped from my face and I turned to my husband and said, “I don’t think we know why we were here.” I took a moment to scan back in the waiting room to check on my two older children who sat clutching the bags of bread we had put together for our planned outing to feed the ducks. After all, this was just a quick pit stop, a typical blood draw “just to make sure” like all of the others up to this point, right? Wrong. We must have been slightly in shock because we just sat there staring silently for the next several minutes until the nurse called out Avery’s name. Only one of us was allowed to go back with her so I left my husband in the waiting room with our other kids while I hauled Avery back in her car seat. As the nurse was getting things ready she explained to me that these kind of call-backs about abnormal testing happened all the time and she was sure we had nothing to worry about. Any reassurance I may have felt was short-lived because in the next breath she was asking me to sign paperwork that asked questions about things like whether or not, to my knowledge, my husband and I were related. I was then handed a very official-looking list of things that may or may not be revealed by this additional testing and the options were all devastating, to say the least. Our oldest child had been diagnosed with autism a few years before this and we had been so entirely focused on the “what ifs” of being faced with that a second time that we felt utterly blindsided by these other possibilities. How could this not be some kind of fluke mix-up? We were told that the results would take 3-7 days, go home and wait, and that no news was good news.

Two days later, on a Friday, the phone rang and I read our pediatrician’s number on the caller ID. My first thought was “Oh, this is great! They’ve got news already and are calling to put us out of our misery!” Relief turned to dread in the very next instant as I remembered that getting results so soon was very, very bad. It was our pediatrician’s nurse wanting to let us know that we were to go to the local children’s hospital on Monday to meet with the newborn screening people at the genetics clinic. She also wanted to know if we would be home for the next hour because our pediatrician wanted to speak with us himself. She said not to worry, but obviously none of what she had just said could possibly mean that good news was coming. An agonizing hour and fifteen minutes later the doctor called back, beginning the conversation with “What have you been told?” Again, not a good indication. He explained that the test results revealed that Avery had a rare genetic disorder called malonyl-CoA decarboxylase deficiency (also known as malonic acidemia or malonic aciduria) and “you don’t want to have it.” We asked a lot of questions and he was pretty up front with us about not really having any answers given that the condition is so rare (we have read conflicting information but it appears that there have only been somewhere in the ballpark of 20-30 cases diagnosed to date). As any parent can relate to, our biggest concern was simple: was Avery going to be okay? Sometimes it’s not as easy as people might think to trade the uncertainty of not knowing for total reality. When the doctor said that he had no idea about “life expectancy” I immediately broke down crying and shoved the receiver into my husband’s hands to finish the conversation. I could not fathom that we were talking about my perfectly happy and health looking baby girl and life expectancy in the same sentence. I spent several hours that night watching Avery sleep, suddenly terrified that she would stop breathing at any moment. It was extremely difficult for us to be given such life-altering news on a Friday and not be able to speak to someone who could knowledgeably answer questions until Monday. Googling medical information is always risky, but of course in our desperation we did it anyway. It turned out that our pediatrician hadn’t been exaggerating – there was virtually no information at all about malonic acidemia. While the “why us/why not us” debate has crossed our minds many times over the years, in a way it has been very humbling to imagine the magnitude of people on this planet and the incredible odds, for better or worse, of this happening to our family.

Our initial meeting with the geneticist confirmed the diagnosis and from there we spent the next few years figuring out treatment plans and dietary options. Essentially, malonic acidemia (MA) is a condition that prevents the body from converting certain fats to energy and is treated with a combination of a low-fat diet, avoidance of fasting (which can trigger a metabolic crisis), and daily doses of L-carnitine (a medicine that helps break down fats). Untreated, MA can lead to seizures, cardiomyopathy, and a wide range of developmental delays, among other things. In some cases it has even been fatal. It’s our understanding the newborn screening panel in Utah was only updated to detect MA just three years before Avery was born. Thankfully, as one of the fortunate few to have been caught at and treated from birth Avery has only ever had mild issues with low muscle tone and developmental delays. The initial compulsion to run to the emergency room at the tiniest hint of a cold has waned as time has gone on and our confidence and understanding has grown. As cliche as it may sound, we didn’t know at first the life and love and possibilities that would could still come from such a seemingly impossible situation. Today Avery is a happy and active preschooler who, aside from being a little extra “petite” for her age, blends right in with her peers. She is a true testament of the impact newborn testing can have and we are so grateful to OAA for their efforts to support, connect, inform, and empower so many different families.

Sherry
Peoria, AZ
sherrydilworth@gmail.com