Family Stories

Katie's Story: MCAD mom and MCAD child

 

Katie was born October 13 1979, and weighed 5 lbs 14 oz and was 20” long. She was a little small but doctors assured us she was healthy. Outside of a few sniffles and a couple 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 it 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 3rd 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, because we saw my brother-in-law who is a CPR instructor and flagged him down. He jumped into our car and started CPR on Katie as we drove to the hospital 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. 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 John Hopkins University in Baltimore, Maryland. Both Dr. Stanley and Dr. Kelley have helped pave the way for MCAD 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 of 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 we were discharged to home. Katie was discharged with the diagnosis of Epilepsy, near SIDS episode vs. Ryes 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 couldn’t find a babysitter that 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 MCAD.

Katie had periodic childhood illnesses. 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, and 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 that we educated about MCAD. 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 21 inches long.

Kaylie had the advantage of the newborn screening test that is now done in many areas hospitals. This wonderful test, as many of you now know, includes MCAD as well as many other inborn errors of metabolism. We had expected Kaylie’s MCAD test to come back negative, and we were already certain she would be a carrier of MCAD because her Mom, is a double carrier. To our surprise Kaylie’s results came back positive for MCAD! This was not suppose 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 MCAD. Katie and Kaylie were the first known mother and daughter to have MCAD.

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

Kaylie & Ryan

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

The McVan Family

Please send questions or comments to (gmoon@ptd.net). I would love to hear from you.

Respectfully Submitted by Gail Moonlight: Mother of Katie McVan and grandmother to

Kaylie and Ryan McVan