3-methylcrotonyl-CoA carboxylase deficiency (3-MCC)
This is a story shared by a family whose daughter has 3MCC.
Our dreams came true when my husband Pete and I found out we were going to have our second child. We had a fantastic pregnancy and learned we were having a healthy baby girl. We chose the name Isabella Eve to honor her great grandmother and great-great grandmother. Pink items were purchased and we had a warm and cozy nursery set up awaiting our princess’s arrival. On May 11, 2006 Isabella joined our family. The entire family was elated with her arrival, especially her proud big brother, Vincent. During our routine 4-day stay at the hospital in Baltimore the nurses and doctors observed, examined, and tested her. One of the tests done was the newborn screening and I had referred to it as the “heel prick test” or the “PKU screen.” I signed the papers and never gave it a second thought. We had no family history of any illnesses and my 1st born was tested and given a clean bill of health.
It was beyond a shock to receive a call from the Maryland Health Department declaring my daughter to have been flagged through the newborn screening. The woman who called said Isabella may have PKU and we shouldn’t worry ourselves because there are often false positives and to make sure she is rescreened at 2 weeks of age. We promptly made the appointment for the second test and waited anxiously for the results. A week later I received a call from our pediatrician stating Isabella had screened positive again for 3MCC and she was to be seen by a geneticist immediately at the University of Maryland Medical center. The geneticist had already been called and she was awaiting our arrival. At this time I held my 3-week-old daughter in my arms and cried as I frantically called Pete who had since gone back to work. He made arrangements to come home and drive us to the hospital. While waiting for his arrival I called my parents to have them leave work and watch our 19-month-old son.
At this time it felt as if we were handed the worst news in our lives and, especially, in Isabella’s short life. What we would later find out was that these worst moments were truly a gift. We met with the geneticist several times over the next few months for observation, urine analysis, and blood work. Eventually, Isabella had a skin biopsy performed to give us the confirmed diagnosis of 3MCC. Isabella was placed on two medications to prevent proteins from building up in her body to a toxic level. Additionally, she spent some time in the hospital each time she had an intestinal illness to reduce the risk of a metabolic crisis. We had approximately four of these visits during her first year of life. During our first years after diagnosis, we did not know what to expect from Isabella’s life. We scoured the Internet searching for other families, other children who were experiencing the same as us. The only stories I was able to find were those of children who did not have the same fate as our daughter. They had only had diagnosis after several crises leading to severe physical and intellectual disabilities. Our hearts broke as we waited for the day our child would have a crisis that may alter her life completely. But she is one of the lucky children, who were given a simple blood test at birth and have avoided a life of impairment.
Right now, Isabella is truly a princess who is a healthy and thriving 4 year old. She goes to preschool and takes ballet/tap classes, has many friends and is a blessing and a joy. She wears a medical alert bracelet, and I have conferences with her teachers each year to review medical procedures. Next year she will attend kindergarten with all the other children her age. I look at this amazing child who does things “ordinary” children do, and I think how blessed we are to live in a state where they test for rare metabolic disorders. If not for this test, I don’t know if Isabella’s life would have had the same outcome. I take the diagnosis from birth as a blessing and a gift of health and a lifetime of delight. I have now been able over the years to meet many families who also have children with various inborn errors of metabolism. It is my sincerest pleasure to reach out to new parents and share our story and to give hope for a healthy and thriving child. I am grateful to know we are not alone and to share in the worries, hopes and dreams of other families. A special thank you to all who have been in our lives to help us through this process and who continue to be a source of comfort and support.
Beth and Peter DePasquale