Anthony Demarko Maccarelli was born April 28, 2010 with a heart condition called atrial and ventricular premature beats. At two days of age, he was transferred to Children’s Hospital of Pittsburgh where he spent a week. We took him home and tried to put it behind us, being reassured that he was okay and this would go away. But for the first few weeks, he was re-admitted several times. Then in May of 2010, Anthony was diagnosed with “failure to thrive” and a nasogastric (NG) tube was inserted to help him eat. At the same time, he also developed accelerated ventricular tachycardia. He was in the hospital for a month, during which time he had numerous tests that all came back negative. Anthony’s NG tube was removed and he was sent home. One week later he was readmitted; the NG tube was replaced, and MRI and swallow studies were performed.
Within a few days, we were informed that Anthony might have a Mitochondrial Disease, and a muscle biopsy was discussed. Anthony had low tone and was losing weight even with the NG tube in place, so we added formula to the breast milk. Anthony could not eat more than two ounces without getting sick so we started out slowly and got him on acid reflux meds to help keep the fluids from coming back up. He was sent home and early intervention was started the next week. Anthony received physical, speech, and occupational therapies twice a week.
On July 29, 2010, Anthony had his first surgery. A G-Tube (Mic-Key button) was inserted and they took muscle tissue from his thigh for testing. At the end of August 2010, we got the phone call that would be the beginning of a new chapter of our lives. Anthony was positive for Mitochondrial Disease. Anthony has a deficiency in Complexes 1,3,4, & 2-3.
The first question that my husband & I asked was: “Okay, what do we do to treat this?” Being told THERE IS NOTHING WE CAN DO OTHER THAN TREAT THE SYMPTOMS AS THEY COME, and hearing the words THERE IS NOT A CURE YET! was like hitting a cement wall.
Being told that most children do not survive this disease past teen years was unbearable at first. Then we thought, “What can we do to make a difference in the life of our little boy, and in the lives of our other children who are also affected by what they see their little brother go through?” We have to find a CURE — for them and for all the other children that fight every day to survive. Our hope is that Anthony will get a CURE before it is too late. We can deal with the developmental delays that he has. We can handle Anthony’s issues with feeding, walking, balance and sleeping long hours. But we CANNOT handle the thought of having to bury our child, or others having to do the same thing with their own children. That is not an option for us. That is why we decided to establish The Anthony Demarko Maccarelli Family Research Fund.
Every 30 minutes, a child is born who will develop a mitochondrial disease by age 10. Each year, 1000 to 4000 children in the United States are born with a mitochondrial disease. While exact numbers of children and adults suffering from mitochondrial disease are hard to determine because so many people who suffer from mitochondrial disease are frequently misdiagnosed, we now know the disease is approaching the frequency of childhood cancers. This is why we need your support. The United Mitochondrial Disease Foundation is largest non-governmental funder of primary mitochondrial disease research in the world. Please donate to the Maccarelli Family Fund. Bring “Hope. Energy. Life” to everyone affected by mitochondrial disease, by donating today!