Kelli's Story
Kelli’s story began as a beautiful, healthy baby girl weighing 7 lbs. 7 oz. born exactly on her due date. The only initial concern about her health was her hearing because she failed her first three newborn hearing screenings. However, in October of 2006, she passed a more in depth hearing test. Praise God!!! We were ecstatic that she could hear!
From that point on, Kelli continued to grow, develop and change each day meeting all developmental milestones right on target. She would light up any room that she entered with her beautiful smile, laid back personality, and incredible strong will. She was very determined and was happiest doing things for herself. She began cruising around the house at 9 months so we waited in anticipation for her to be an early walker. It wasn’t until 14 months of age that she was confident enough to take off on her own.
Months passed and around 19 months old, I began to become concerned that Kelli was having difficulty keeping her balance. She would sometimes stumble, stagger, and often fall. By 22 months, it was becoming even more noticeable. At that time, the mornings were the most noticeable for me. When I took her out of her crib and put her on the floor, she would have to hold on to me or something around her. That would improve as the morning went on, however, she would continue to stagger and fall randomly throughout the day.
Kelli’s pediatrician referred us to see a Pediatric Developmental Specialist. On June 14, 2006, Kelli saw a Pediatric Developmental Specialist, an Infant Educator and a physical therapist. It was noted that she did have a little difficulty with her balance and an immature gait, but her language and cognitive skills were doing fine. They would see us again in a month.
On July 17, 2006, the Pediatric Developmental Specialist arranged for another hearing test and an MRI. On July 20, 2006, Kelli had a MRI actually looking for things like fluid, cysts, tumors, etc. The MRI showed that everything looked okay, however, there was a note made that she had a mild delay in myelin development. I was assured by several doctors that this was not a cause for concern. On July 31, 2006, Kelli had her hearing checked again and it was fine.
On Sept. 6, 2006, the Pediatric Developmental Specialist stated that she was mildly ataxic in her follow-up visit. By the end of September, I continued to press the issue that something was wrong. My extremely independent daughter was increasingly wanting to be carried much of the time. Her walking was beginning to be much more labored.
On Oct. 17, 2006, Kelli had an initial visit with a Pediatric Neurologist. In that initial visit, he diagnosed her as having Ataxia (which means unsteady gait, however, it is a symptom of something more serious) and he expressed concern that there was something seriously wrong. He also stated that she had done an impressive job at compensating for her ataxia. Blood testing for diseases/disorders began that day.
Up until that point, her balance and walking were really her only two symptoms. However, by the end of October and beginning of November her eyes began to separately pull inward toward her nose and then reposition themselves to their normal state. It was at this time that she began to have hand tremors which weakened her ability to independently hold her sippy cup. Also, her speech had an evident delay and she was lacking the ability to attempt new words.
On Nov. 6, 2006, Kelli had another brain MRI with additional imaging and contrast, additional blood testing, urine testing, and a lumbar puncture. On Nov. 8, 2006, our world was shattered when the Pediatric Neurologist called us into his office to tell us that he strongly felt that Kelli had some form of Leukodystrophy but needed to do another blood test to confirm which one. After waiting for almost three weeks, on Nov. 27, 2006, Kelli was diagnosed with Metachromatic Leukodystrophy.
In January 2007, balance and walking became much more difficult for Kelli. At times she would walk holding onto a hand or a nearby object which she knew would help her balance. Often she chose not to walk, instead scooting on her bottom, crawling, or wanting to be carried. When she did walk, it was for a short distance before falling down.
On 1/5/07, Kelli began physical therapy at Kluge. Her PT gave her a walker to borrow for the weekend to see if it would help her stay upright and moving. Her eyes continued to move randomly and her hand tremors increased. She had an overall weaker appearance and she continued to struggle with sleeping well at night.
On 1/8/07, my dad and I took Kelli to see Dr. Joanne Kurtzberg at Duke University Medical Center to determine if Kelli would be a candidate for a cord blood transplant. We were there for four days while she had lab work done, a Nerve Conduction Study, an MRI, a BAER (Brain Auditory Evoked Response), a VER (Visual Evoked Response), an EEG, and a Developmental Evaluation done by Dr. Maria Escolar at the University of North Carolina in Chapel Hill. The trip was extremely hard on Kelli. We finally figured out that her dislike of travel was due to the discomfort of being in her carseat. Kelli began to show visual signs of being in pain when she had to sit in that specific position for more than about 15-20 minutes - it was heartbreaking to watch.
While in North Carolina, the only test that physically took a toll on Kelli was the MRI. I requested a different type of sedative for her since she did not respond well to the chloral hydrate when it was administered at UVA. She was given a different mixture of drugs to sedate her; however, before going into the MRI, she stopped breathing. After that scare, she was okay and the MRI was conducted. She was supposed to remain asleep for the EEG and some other testing but she woke up. She was not real happy with me holding her down while 30+ electrodes were attached to her head. Finally, she fell asleep, but when she woke up, she was still fighting the medication so we had to stay in the hospital for several more hours.
When Dr. Kurtzberg called on 1/15/07 to give us the test results, the nerve conduction testing was normal which meant that the nerves coming from her spine had not yet been affected. Her MRI was stable which meant it had not changed since November 2006. These were all PRAISES! They considered her to be a candidate for cord blood transplant. Yet, after much discussion and prayer, Greg and I decided that what Kelli would have to endure the next two years was not in her best interest [no immune system, 13-15 drugs per day, constant side affects from medications, the risks that go with the transplant (the possibility of dying during, right after, or even within two years from complications or a virus), the possible negative outcomes from the chemo on the brain that might cause abilities that she had before the transplant to be gone (not being able to move, communicate, eat, walk), the fact that the disease continues to progress for 6 months after the transplant while the cord blood grafts with the body and the brain, the chance of putting her through it and the cord blood not grafting with her body]. Our desire was that she not suffer anymore than she had to. We made the decision to live each day to the fullest, making her as comfortable as possible and loving her as long as God allowed her to remain here with us.