Anna's Story
January 1996

Stomach virus - just what we needed with a seven-week old baby in the house. Our oldest daughter, Callie (4.5yrs), had had it. Now our middle child, Anna (1.5yrs), had it. We were concerned that baby Ben would be next.

From the start, Anna had always been our little eater. She had been through ear infections and bronchitis, but never missed a meal or a snack. This time though, she just could not eat. Anna seemed tired and slept most of the day. That night, Dell stayed in the room with Anna. She was up with vomiting and diarrhea several times. The next morning, Dell went to work. I was going to let all the children sleep.

I decided though to check Anna's diaper. She moaned but did not put up the usual fuss over a diaper change. I called the doctor. We went straight to the emergency room.

Emergency. Triage failed. We were told to wait. Anna was moaning and not responding to us. I took her up to a nurse who finally realized that we needed help immediately. Anna's blood sugar was at 15. We were asked several times if there was any way that Anna could have taken an insulin pill. We told them "no!" several times. After dozens of tries, an IV was finally started in her hairline.

After getting Anna stable enough to travel, she was transferred to Cook Children's Hospital in Fort Worth. Once again we were asked if Anna could have gotten into someone's insulin pills. They could not explain what was happening. Anna started doing better after a few days of glucose IV's. Tests were done. She came home from the hospital.

A week later we received a call from our family doctor. He said that a doctor at Baylor in Dallas had been contacted about Anna's test results. Dr. Charles Roe had an explanation for us. Anna had MCAD. DNA testing showed that our other two children were carriers for MCAD. Anna has no lasting complications from her first metabolic crisis.

To help prevent future crises she takes an enzyme supplement, restricts fat intake, and avoids periods of fasting. We keep an emergency protocol sheet with us at all times. Not all doctors and emergency room staff know how to treat MCAD. Awareness and early diagnosis of metabolic diseases can save lives. Supplemental newborn screening can save lives.

Dell & Melanie Ruff
Parents of
Callie - Carrier
Anna - MCAD
Ben - Carrier