Anna R's Story
MCAD
The following is Anna’s story that first appeared in the July 1998 FOD newsletter with a 2013 update following.
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. (Later, hospital notes show that possible diagnoses were 1. Infectious origin, i.e., sepsis or encephalitis or meningitis; 2. Reye’s syndrome possibility; 3. Ingestion of unknown origin; 4. Hepatic encephalopathy or met hemoglobinemia. These were in the typed notes. There was a written note added – 5. Metabolic defect.)
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. Fast forward through sixteen years…
What a long strange trip it has been. We have moved twice since Texas (Tennessee and Georgia). With each move, we have found pediatricians who have been willing to learn about MCAD. We have been fortunate in finding pediatricians that listened to us and educated themselves (and staff) on MCAD. Anna went eleven years without a hospitalization (kindergarten through eleventh grade). She had to go in for an overnight stay due to a virus combined with stress. A month later she came through wisdom teeth extraction with no problems. Activity in the heat has been a concern. Anna tends to melt in really hot weather but with a sharp eye and keeping the fluids in her and a snack at the ready, she has been able to enjoy several days at amusements parks and touring Washington DC, San Antonio, and Charleston in the heat of summer.
Enough about MCAD………. On to Anna.
Anna has blossomed into a phenomenal young lady. She has participated in Girl Scouts rising to the rank of Senior Girl Scout. She passed her driving test on the first try. She graduated high school in May 2012 (ranked in the top ten and with honors, French, Sociology and Physics Awards, Georgia Certificate of Merit). Although she is the most athletic of our kids, she did not go out for sports. It’s just not her thing. She is a bookworm and anime fanatic. She has just finished her first semester as Armstrong Atlantic State University with a 4.0 / Dean’s List (majoring in History). The daily commute has not been a problem although we do worry about her zooming around in her little Civic.
At the Atlanta FOD Conference, Anna participated in the general discussion for MCAD. She was able to talk to parents of the younger children and provide some insight on growing up with this disorder. As parents, we were very proud (and are) very proud of her.
Dell & Melanie Ruff – Richmond Hill, GA
Parents of:
Callie – Carrier
Anna – MCAD
Ben – Carrier