Long journey to uncertainty.

Our two-year-old daughter, Taylor, has been diagnosed with a mitochondrial DNA deletion syndrome affecting her digestive tract, kidneys and nervous system. A healthy 6 lbs. 7 oz. at birth, Taylor now weighs only 16 lbs. 14 oz. Blood tests show that 92 percent of her mitochondria have deletions of 50 percent of their genetic material. The journey to obtain this diagnosis was as uncertain as it was long.

At two months, Taylor had viral meningitis. After that, she had difficulty gaining weight. The only explanation we were given was that she wouldn't suck her bottle. At six months, Taylor was hospitalized for failure to thrive and received feedings through an ng-tube 24 hours a day. Taylor hated the tube and constantly tried to pull it out. Oral feeding was unsuccessful, so we agreed to the placement of a g-tube, which had some success, but was accompanied by unexplained bouts of vomiting. By this February, Taylor could no longer tolerate any feeding into her stomach.

LOOKING FOR AN ANSWER

Taylor has had nearly every possible test to determine why she can't tolerate food. Some tests gave us valuable information. Some revealed nothing. After months of testing, waiting and wrong diagnoses, in January 1997 a blood test showed high levels of lactic acid in the blood and we heard the diagnosis "mitochondrial disease."

After a diagnostic work-up, Taylor was put on the experimental drug DCA (dichloroacetate). The drug brought her lactic acids levels down to a normal level. Unfortunately, we had to take her off DCA in April and her lactic acid has crept up again. Though still higher than normal, it is much lower than it had been. We don't plan to put her back on the DCA at this time.

FEEDING DIFFICULTIES INCREASE

Taylor has been hospitalized numerous times for life-threatening viral infections which cause severe dehydration, vomiting and weight loss. Her last hospital stay lasted eight weeks. The doctors performed another surgery to place a central line (an I.V. line placed in the large vein that empties into the heart). The central line was then used to feed Taylor, a procedure called TPN (total parenteral nutrition). What we hoped would be only a short-term solution, has turned out to be the only way Taylor can be fed.

The hospital staff trained us in the care of the I.V. site, how to set up the tubing and how to administer the medications through the central I.V. line. We were overwhelmed! We have had to make many changes in our home to accommodate the problem. The TPN fluid and all the medications require refrigeration. The other supplies must be kept sterile, organized and locked away from our five-year-old son, Josh. We purchased a medical cart with dividers and locks, and locking containers for the refrigerated medications.

The responsibility is staggering. Sterile procedure is an absolute necessity in giving Taylor her TPN and medication. We had to become aware of the germs around us in order to take every precaution against infection in Taylor's central line. Carnitor is added to her daily TPN feedings and Zofran (ondansentron I.V.) is added as needed for vomiting and nausea. She has had several incidents with low blood sugar since beginning the TPN and we now follow more stringent guidelines for regulating her blood sugar levels.

The process of feeding Taylor with the TPN is very time-consuming. She is attached to the machine for 20 hours out of the day. We try to make it as unlimiting as possible but she is most mobile during those four hours off the machine. My husband and I have learned not to worry about her weight. We focus on how she looks and acts instead.

It is difficult to balance Taylor's medical, developmental and emotional needs. After the last hospitalization, she lost most of her strength and motor skills. She was so weak she could not even to lift her head up. With the help of a teacher, physical therapist and speech therapist, Taylor is now walking independently and can say "mama" as well as some other sounds. Unfortunately, her speech is still delayed. Tests show that she has not had any hearing loss, so we remain hopeful. At the same time, however, she does not have many chances to interact with other children, though she has participated in a home-based early intervention program since she was six months old.

A FAMILY TOGETHER

This year will bring new challenges as our son, Josh, starts kindergarten. Last year we limited his pre-school time because of the number of germs he brought home. This year we will struggle with the issue again as we try to keep Taylor out of the hospital and happy at home with all of us.

Our family strives to stay positive and take things one day at a time. Taylor brings a great deal of joy into our lives. She has a determination that just won't stop. Josh has grown beyond his years in love and compassion. He has such a unique bond with his sister and this experience will serve him throughout his lifetime. Our family has grown. We know we are blessed in many ways.