Katie's Story
The First Mother and Child With Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCADD)

Katie was born October 13, 1979, and weighed 5 lbs. 14 oz. and was 20 inches long. She was a little small, but doctors assured us she was healthy. Outside of a few sniffles and a couple of ear infections she remained healthy up to the age of 13 months. Katie developed a stomach virus that her older sister had. It lasted about 24 hours in her sister, but when Katie became sick, the virus lasted for days--so I thought. I would think she was better, but in the middle of the night she would wake up and vomit and go back to sleep. This happened several nights in a row. But on December 3, 1980, she did not wake up in the middle of the night to vomit and I thought, with relief, this virus is finally gone. I thought it was very unusual that she was not awake by 8 am on this particular morning. Then I heard her cry out; it was a funny type cry, almost a scream. I had never heard this type of cry from her before. When I went into the room, Katie was having a seizure. I quickly picked her up and screamed for my husband, and we jumped into the car and took off for the hospital. About 2 blocks from home she had another seizure and stopped breathing. In my panic state, I was frozen and couldn’t remember how to do CPR. GOD was with us that day, however, because we saw my brother-in-law, who is a CPR instructor, and flagged him down. He jumped into our car and, as we drove to the hospital, started CPR on Katie and saved her life.

When we arrived at the hospital, she was resuscitated and admitted to ICU. Her pediatrician was called and had arrived at the hospital and was as puzzled as we were. I had never seen my baby this sick. She had tubes coming out of every part of her little body as well as a machine that was breathing for her. That afternoon we were transferred to Children’s Hospital of Philadelphia, Pennsylvania. Little did I know at that point that the most wonderful doctors in the world would become such a big part of our lives: Dr. Charles Stanley, who still sees Katie today at the age of 28, and a Metabolic Fellow by the name of Dr. Richard Kelly, who is now a Professor of Pediatrics at Johns Hopkins University in Baltimore, Maryland. Both Dr. Stanley and Dr. Kelley have helped pave the way for MCADD diagnosis and treatment with studies done throughout the years on Katie.

My little girl stayed unconscious for about 3 days in the medical ICU in Children’s Hospital of Philadelphia, PA. She started to wake up and was taken off the respirator, and catheters started to be removed. After about 12 hours she again became obtunded and put back on the respirator. At this point the metabolism/endocrine doctors and fellows were called in to evaluate Katie. She was put on this magic IV fluid of 10% glucose, and within a few hours she was awake and alert. After being closely monitored for about 2 weeks with no more episodes, Katie was discharged with a diagnosis of Epilepsy, near SIDS episode vs. Reyes Syndrome (sound familiar to anyone?). We returned to the hospital several times that next year for fasting studies and various diagnostic tests. Katie had skin, liver, fat and muscle biopsies along with many fasting studies that kept us hospitalized each time for a few days.

What was this terrible thing that caused my daughter to have a seizure, respiratory and cardiac arrest? Would it happen again? I had to quit my job and stay home with my daughter, and I couldn’t find a babysitter who wanted the responsibility of caring for her because they were all afraid something would happen to her again. Over the next several years we learned about fatty acid metabolism, short chains, medium chains, long chains and recessive disorders. Finally, something had made sense and put this all into perspective. In 1982 we had a diagnosis of MCADD.

Katie had periodic childhood illnesses, and we got through most of them without having to go to the hospital. These illnesses included ear infections, fevers, colds and even the chicken pox. It was the stomach viruses that seemed to be the culprit of always putting Katie into the hospital for a day or two. As an infant Katie could not go more then 12 hours without food intake, but as she got older she tolerated longer periods of fasting. Now, as an adult, her tolerance without food intake is 16-18 hours before intervention is needed.

Katie got married and then became pregnant in 2002. She was lucky enough to have a great obstetrician whom we educated about MCADD. I worried through the whole pregnancy about her having morning sickness, but she tolerated everything well, including her labor and delivery. Kaylie Marie McVan was born on October 21, 2002, weighing 6 lbs. 6 oz. and measuring 21 inches in length. Kaylie had the advantage of the comprehensive newborn screening that is now done in many of our area hospitals. This wonderful test, as many of you now know, includes MCADD as well as many other inborn errors of metabolism.

We had expected Kaylie’s MCADD test to come back negative, and we were already certain she would be a carrier of MCADD because her Mom is a double carrier. To our surprise Kaylie’s results came back positive for MCADD! This was not supposed to be! What was the answer? Was my son-in-law a carrier? We again called on Dr. Stanley who thought that, being of Irish descent, my son-in-law could be a carrier. He was immediately tested, and the results were conclusive that he is a carrier of MCADD. Katie and Kaylie are the first known mother and daughter to have MCADD.

In Kaylie’s short 5 years of life she has been hospitalized several times with exacerbations of MCADD. She is given 10% IV glucose and bounces back to a healthy state very quickly. Aside from the MCADD, Kaylie is a normal, active, chatty 5 year old.

Katie was blessed with her second child in 2007. Ryan Patrick McVan was born on July 26, 2007, weighing 8 lbs. 6 oz. Both the mother and baby did well during labor and delivery. Ryan was watched carefully as he was suspected of also having MCADD like his sister. Ryan also had the advantage of the newborn screening blood tests, as did his sister. A week later the results were back, and Ryan does not have MCADD! Ryan’s pediatrician, with the help of the Metabolism Department at Children’s Hospital of Philadelphia, conducted more extensive blood tests. Six weeks later the results confirmed that Ryan, indeed, does not have MCADD but is a carrier. So now GrandMom, at least, can rest a little better knowing Ryan does not have MCADD, and getting through those first childhood illnesses won’t be as worrisome.

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