This is a personal story shared by a family who child has MCADD.
Our daughter, Rebecca, came into this world on the morning of December 4th, 2005. It was a normal pregnancy and we had no complications from the delivery. She was a beautiful baby weighing in at 6 lbs 10 oz, and 21 inches long. Like any parent who has their first child, you check to see if they have 10 fingers and 10 toes, and that her Apgar scores come back in the normal range. Well they did, and after a 2-day hospital stay, we went home. That’s when our lives changed forever.
After just arriving home, we received a phone call that we will never forget. Someone from the state was telling us that a test had come back abnormal on her expanded newborn screen. They muttered something about MCAD deficiency, and that we needed to get her to the pediatrician asap. So off we went, not knowing what to expect next.
While there, we were blindsided by the news that our daughter had a rare disorder and that we needed to feed her frequently until we were able to see a genetic specialist. Also, they did another heel prick to send out for a second newborn screening.
Upon returning home, we looked online at the website our pediatrician had suggested, and we read things like “brain damage” and “death.” Needless to say, this was devastating. Our appointment with our genetic specialist wasn’t until one week later. So we had to wait for answers, which seemed like forever.
In the meantime, we had this precious little girl to take care of, and so I nursed her around the clock every 1.5 to 2.5 hours. This, along with all of the emotional stress, took it’s toll on both myself and my husband. But our daughter was thriving, and so we endured.
Within a week, we had received word that the second test did come back positive for MCAD deficiency. So there it was in black and white ... she indeed had this disorder. We finally met with a genetic specialist, and she took the time to answer all of our questions and provide us with detailed information on what we needed to do to properly care for our daughter. During the appointment, we were also told that her octanoylcarnitine concentration was 28.6 micromol/L (whatever that means) and that the highest they’ve ever seen was a 30.0. The word “impressive” was used, and not in a good way. We were also told when, not “if,” our daughter gets a fever or is not eating, to call her right away.
That day came on Labor Day in 2006 when Rebecca was 9 months old. She had caught a virus, had a fever of 104, was vomiting and was unable to keep any food down. She was also shaking uncontrollably (we believe now that this is due to both hypoglycemia and muscle breakdown). We called the specialist, and she called ahead to the ER to let them know we were coming. Rebecca spent the next 5 days in the hospital on IV D10. She was poked so many times (because the IV lines kept blowing), that they ran out of spots on her arms and hands for IV placement sites, so they started on her feet. To see your child under these circumstances is a nightmare. We wouldn’t wish this experience on anyone, but we know it’s what we need to do in order to keep her alive.
Our daughter is now 7 years old and in first grade. She has had many hospitalizations over the years, but now it’s become second nature to us. She is also now old enough to understand what MCAD is and how she knows what is needed to keep herself healthy.
Through all of this, we have developed an amazing support system, ranging from her pediatrician and genetic/metabolic specialists, to caring friends and family members. It’s nice to know that they all ‘get it’ and are right there for us when we need them, no matter what time of day or night.
Looking back in time at where we were when we first got the diagnosis, it was a very hard time for us. Now that we’ve learned how to handle this disorder, I feel like we’ve achieved a sense of normalcy. It might not be what others think of as normal, but that’s ok. It works for us.
Sincerely, Karin Cleary Submitted March 16, 2013 by Karin Cleary Mother of Rebecca
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