During Guinevere’s (“Gwynnie’s”) first 3 months of life, she exhibited severe vomiting and gastrointestinal problems. Her eyelids were droopy and her muscle tone was poor. As a toddler, Gwynnie seemed to engage in normal play, however, the trips to the playground often ended up with Gwynnie snuggled in her parent’s arms holding a soft blanket. Unfortunately, her sweet behavior masked her fatigue and underlying condition.
When Gwynnie was 21 months old, she began to have several episodes of vomiting, flu –like symptoms and lethargy. These episodes frequently landed Gwynnie in the ER with dangerously low blood sugar readings and dehydration. In February 2008, Gwynnie was hospitalized and placed on IV fluids for 3 days. Her symptoms improved only briefly, and after several more trips to the ER, her mother took her to Children’s Hospital Los Angeles ER with a blood sugar of 37 (readings in the 30’s can cause coma, multi-system organ failure and sudden death).
At CHLA, specialized tests revealed metabolic abnormalities and a mitochondrial disorder was suspected. After additional testing, including sophisticated DNA sequencing, Gwynnie was confirmed to have a mitochondrial disorder by Dr. Boles. Her hypoglycemia is now under excellent control with dietary and medical therapy. However, Gwynnie continues to suffer from many other symptoms of mitochondrial disease including frequent abdominal pain, severe muscle cramps, gastrointestinal problems and urological problems.
Gwynnie is at risk of multi-system organ failure and sudden death particularly in times of fasting, vomiting or fever- times where her body’s energy demands greatly exceed her diminished energy supply. Because of Dr. Boles’ direct care, his influence educating CHLA ER doctors and his life saving research Gwynnie is here with us today.