A week after she was born her New York state newborn screening came back flagging her for a disorder called medium chain acyl-coenzyme A dehydrogenase deficiency (MCAD). The next day we had an appointment with the medical team in the pediatric genetics metabolic clinic at Golisano Children’s Hospital to evaluate Madelyn. There we learned that MCAD is a rare genetic metabolic disorder with a preval
ence of 1 in 17,000. People with MCAD are deficient in an enzyme needed to convert fat from their body and from food into energy. Signs and symptoms of MCAD only develop during times of fasting or illness. They can include lethargy, low blood sugar, seizure and if left untreated can lead to coma and death. Treatment consists of giving intravenous dextrose (sugar) to supply the body with the energy it needs and treating the acute illness that caused the crisis. You can read more on the National Institute of Health website. After hearing all this we were devastated. Our doctor reassured us as long as Madelyn avoids fasting and is brought to the hospital when sick she would be ok. Madelyn is now an active healthy 3 year old. Whenever Madelyn starts to get sick we are in constant contact with a practitioner from the genetics office. They have been there for us day or night. When it is clear Madelyn can’t or is no longer taking in enough food to sustain her bodies energy needs we head into the emergency department. A practitioner from the genetics office will always call the emergency department to let them know we are coming and to start treatment right away. We are so thankful for the staff in the metobolic clinic for all their support. When we had our other children Abby in June 2010 and Colin in March 2012 the office was in contact with the pediatric doctors in the delivering hospital. Since the disorder is genetic there is a 25% chance each baby would have MCAD. They helped them set up treatment protocols and helped with expediting our children’s newborn screening tests. Abby’s newborn screening came back negative where Colin’s came back positive for MCAD and he is now being followed by the clinic too. We hope to raise awareness about our children’s disorder and give back to the hospital for all the support they have given us.
