Our daughter Gabrielle is 3 years old and has MCAD. I would like to call her an ‘MCAD Success Story,’ because Expanded Newborn Screening did its job for her. Thank you to every person who advocates for Expanded Newborn Screening. She is healthy and strong and has had no MCAD related issues. Gabrielle was diagnosed at 8 days old. Here is her story.
We got the phone call at 4:00 PM on a Friday afternoon. Gabrielle was 8 days old, and her sister (age 3 at the time) and I were enjoying a quiet day at home. The pediatrician’s office called, and I didn’t pick up the phone, because I thought it was just a ‘reminder call’ about Gabrielle’s check-up on Monday morning. Then the phone rang again; I answered it but no one was there. Then my cell phone rang. Then the phone rang again; this time I answered it on the first ring. The pediatrician’s medical assistant was on the phone asking us to bring in Gabrielle right away. Her exact words were, “The doctor needs you to come in to see him now. He needs to talk to you about her PKU test.” What? She gave nothing away about the seriousness. Despite the fact that it was 4:00PM on a Friday afternoon, for some reason this didn’t worry me at the time. How could I know that our lives would change forever?
I drove Gabrielle to the doctor’s that afternoon not knowing what to expect. This day cements in my mind that we made the right choice in a pediatrician; he is the kindest pediatrician on the planet. He sat us down in the exam room and told us that Gabrielle tested positive on her newborn screening for something called MCAD. He talked with me for a very long time, and admitted he didn’t know a lot about the ins and outs of MCAD. He explained some of the possible complications from MCAD including that it could be fatal. However, he also was very positive, excited almost that the newborn screening had worked. He stressed at the time – over and over again – that we needed to feed her ever 2-3 hours. This feeding schedule would keep her safe. His office had set-up an appointment for us the following Monday at the Genetics Clinic at our local Children’s hospital. We left the doctor’s office with an order to get blood work done that evening and a prescription for Carnitor®.
Over the weekend, my husband and I talked a lot, and of course we cried. We pulled out a simple travel alarm clock, and I used that to remind me of Gabrielle’s feedings. I used this clock for a year, and then I threw it away. I never wanted to hear that beeping sound again!
On Monday, we went together to the Genetics Clinic. We met with a genetic counselor, a nurse dedicated to the practice, and two different Metabolic Geneticists. We were there for a couple of hours.
At the genetics appointment, the doctors, nurse and genetics counselor were all very kind, straight forward with information and also ‘oddly excited’ that newborn screening had identified the MCAD. My husband and I found it very strange at the time; now we fully understand why they were so excited. At some point, one of the doctors said something like, ‘…this is so wonderful to know about the MCAD now. Because unfortunately in crisis the kids can present in different ways….some even “present as dead”. ’ I wish he could have said it in a different way, but he was being his scientific, clinician self. Unfortunately, he was just being honest. Fortunately, we know about the MCAD, and we can do everything in our power to prevent/treat a crisis.
They explained to us the importance of feeding Gabrielle regularly and treating any illness aggressively. They explained about the importance of a D10 IV during fasting and that we should bring her to the ER if she won’t eat. They explained to us the importance of being decisive and pushy in the event we end up in the ER. We were to call them if the ER staff didn’t treat Gabrielle immediately; no waiting allowed. It helps that these doctors work on staff at hospital where the ER is located. The doctors told us they are on-call 24/7; never be afraid to call. They have proven this. I’ve called them at all different hours; they are on the phone in moments and are never bothered by our calls. It is wonderful knowing that they are readily available. It is great peace of mind.
My husband and I left that appointment exhausted and overwhelmed. The joy of our newborn’s arrival was now tainted with the news that she had a disorder that could kill her. Needless to say I cried a lot. I cried nearly every night I had to wake up to that alarm and feed Gabrielle. I think I never overslept, because there was a lot of motivation to pop out of bed to get her fed on-time.
Gabrielle’s first year was tough only because of her feeding schedule. It was beyond exhausting; I don’t ever want to be that tired again. I was so tired that my legs hurt all the time. I could never think straight. She didn’t get sick, she didn’t have a crisis. We count ourselves very fortunate for that. Newborn screening worked for her and probably saved her life.
At Gabrielle’s 2 month well visit, the pediatrician paraded Gabrielle and I around the office. The pediatrician wanted every staff member to meet her. He wanted them to know her name and to know the importance of newborn screening. He wanted them to understand the importance of reviewing every newborn screening the day it arrived at their office. He wanted the ‘nurse triage’ staff to understand that when I call, that it really is important and that I am not being an ‘over-reactive parent.’
During Gabrielle’s life, one thing has been particularly difficult for me. I am not one to worry. I am not concerned about minor illnesses. I don’t run my kids to the doctor because they have the sniffles or a cough. My 6-year-old daughter, Zoe, has only been to the doctor 4 times in her life for illness. Zoe doesn’t get sick often and I have to remind myself that for her, it’s ok to take a wait and see approach to illnesses. My mindset for Gabrielle has to be very different. I’m always thinking, “Take me seriously. Know that I am not over-reacting.”
We didn’t change our lives much because of Gabrielle’s MCAD. When you have a newborn and a 3 year old at home and you’re a stay at home mom, it’s not like you’re out and about all the time. The only thing we did differently, and I would do it again in a heartbeat, is that we didn’t send Gabrielle’s sister, Zoe, to preschool at age 3. We decided that preschool for Zoe could wait another year. Some people criticized and others understood. It was one of my first lessons in standing up for our family’s approach to life. I don’t like having to remind people about Gabrielle’s MCAD to justify our actions in their minds.
Gabrielle’s life so far has been excellent. She is a real character. She is a happy, curious, mischievous little girl. She’s reached every milestone on-time. She learned to ride her tricycle last summer. She’ll climb anything she can. She can run and jump with the best of them. She is active and always wants to be active.
I expect challenges ahead with Gabrielle. But I’m no longer waiting for the other shoe to drop. I’m not worried about a crisis; if it happens we’ll do what’s necessary. We are forever grateful that Expanded Newborn Screening worked in our case.
Laura and Tony
Parents to Gabrielle, 3 (MCAD) and Zoe, 6