ABOUT DILLON by Darrile Papier
Our adorable 5 year-old son Dillon loves spending time with his family as much as he loves baseball, music, and gourmet food.
He awakes each morning with his ever present dazzling smile and exhibits his fun, loving personality throughout the day, always spreading joy and inspiration to everyone he meets. He has a zeal for life that is not typical of most children. One has to wonder if he knows that his years are numbered and he has taken it upon himself to live each day to the fullest.
Dillon’s life began as an easy delivery, born on his due date to parents Mark and Darrile. Dillon’s nurses had an immediate affection and attachment with him. They nicknamed him “surfer boy” because of his unusual blond hair.
At six weeks, Dillon was diagnosed with jaundice; blood was drawn for testing. We were familiar with jaundice, increased indirect bilirubin, and the phototherapy treatment – fluorescent blue spectrum light and the fiberoptic light blanket. We were not prepared when the Pediatrician informed us that Dillon’s direct bilirubin was extremely high and required that he be admitted to the hospital for several days. Arrangements had already been made for Dillon’s immediate care. The doctor also explained that she had only seen this twice in 20 years. We were shocked and confused and prayed that the results were inaccurate.
At six weeks of age, Dillon endured multiple tests, some involving 12 hours of painful probing and blood draws. The doctors ruled out cancers, cystic fibrosis, etc, and scheduled Kasai surgery relating to an expected diagnosis of Biliary Atresia, a rare condition in which the common bile duct between the liver and the small intestine is blocked or absent. Finally, a liver biopsy concluded that it was not Biliary Atresia but neonatal hepatitis. Neonatal hepatitis is an inflammation of the liver that no specific virus can be identified as the cause. There is no specific treatment except vitamin supplements, drugs to stimulate the liver, and formulas containing more easily digested fats. Although 20 percent of infants with neonatal hepatitis develop chronic liver disease and require a liver transplant, we were encouraged that Dillon had an 80 percent chance to fully recover with minimal liver damage.
Dillon was placed on seven medications and seen regularly at Johns Hopkins by a wonderful doctor who was involved in her own innovative liver studies. Although Dillon gradually improved and was weaned off the medications, our specialist thought his recovery was unusually slow. Dillon was 2 ½ at his last regularly scheduled visit. He was considered a success story and we were there to celebrate – tears of joy by all. But during the exam, it was discovered that Dillon’s spleen was significantly enlarged. It was a somber moment. I attempted to make light of it by explaining that continuous and severe ear infections had exhausted the spleen. For the next three months Dillon was tested for a variety of cancers and diseases. With each new test that came back negative, we rationalized that our doctor was just being thorough. Dillon was then referred to a Hopkins hematologist who performed a series of tests to rule out all possibilities of another disease. Those test results were also negative. We were confident that they were just being cautious and Dillon’s spleen would reduce with time.
Three days before Dillon’s 3rd birthday, he bravely endured a bone marrow test, liver biopsy, and placement of ear tubes. Within hours it was confirmed Dillon had a “storage” disease. We were naive with the diagnosis and asked about treatment and how quickly it could be scheduled. The hematologist explained there were over 40 lysosomal storage diseases and it could take some time for a specific diagnosis. We were referred to the Hopkins McKusick-Nathans Institute of Genetic Medicine.
They suspected that Dillon had Niemann-Pick Type B, for which he was tested immediately.
Family and friends researched Type B and discovered that it was the most favorable of the three types, with the promise of treatment if an ongoing clinical trial of enzyme replacement therapy succeeded.
After two weeks, the test came back negative. We were relieved and felt that the storage disease diagnosis could still be a big mistake. However, we were informed that our son would be tested for Type C, the rarest of the three. A skin biopsy was taken from his arm which left a scar that Dillon now refers to as his beauty mark. The disease is so rare that there are only three labs in the U.S. that perform the time-consuming test. Skin cells were grown (fibroblasts) for two weeks before being shipped to the lab.
It took another 4 weeks to perform the second and third phase tests, filipin staining and cholesterol esterification.
Waiting for the NPC test results for the 6 week period was agonizing. During that time, family and friends were productive with their research and inquiries for obtaining any available NPC information on treatment as well as obtaining the names of the leading experts were in this field. All research led back to Dr. Patterson who had just completed the first 12-month Zavesca (Miglustat) drug trial. As expected, he was extremely busy with clinical study and traveling engagements. Anticipating the NPC diagnosis, we were fortunate to schedule an appointment with Dr. Patterson for two months later (only available because of a cancellation).
As suspected, the tests concluded that Dillon has Niemann-Pick Type C (NPC), a rare genetic metabolic disorder that is always fatal. The thought of our beautiful son slowly disappearing while having to endure pain before he even had a chance to live, was heart-shattering. We felt completely helpless and the devastation was soul-crushing. The disease is so rare there are only 500 reported cases worldwide. However, it is believed that the number of people affected by this “orphan” disease is higher,
but diagnostic difficulties do not allow an accurate assessment. Symptoms of NPC occur because of a defect in the intracellular transport of cholesterol, which results in abnormal amounts of cholesterol and lipid accumulating in various organs, spleen, liver and brain. NPC affects mostly children who often die before the age of 10 or within 5-10 years of diagnosis. Dillon is in the early stage with symptoms that include an enlarged spleen and liver, clumsiness, upward gaze palsy (inability to look up without moving his head), and speech deterioration. It is a devastating disease that robs NPC children of their ability to walk, talk, and swallow, eventually requiring a feeding tube. Seizures are common with a progressive neurological decline that robs children of the ability to recognize their parents and then steals their lives. NPC has been labeled the childhood Alzheimer Disease, due to similar neurofibrillary tangle formation, and lysosome system dysfunction.
Several weeks after diagnosis we met with Dr. Patterson on December 5, 2005, at Columbia University Medical Center, Center for Human Genetics to understand the quality of life and side effects of a patient taking Zavesca. He was extremely kind and compassionate but realistic when he emphasized that it had already been determined that Zavesca would not cure NPC. The best case scenario would merely slow the progression of the disease. After many baseline tests were performed, Dillon began taking Zavesca on December 24, 2005. The monthly charge for Zavesca is approximately $10,000 without health insurance. Many families are denied coverage since Zavesca is experimental and considered an off-label treatment for NPC disease.
Following Dr. Patterson’s protocol, Dillon visits Hopkins regularly and is seen by multiple doctors to ensure that he is not having adverse side effects. Since Dillon travels with a bat, ball and glove, the doctors are more than eager to play a pick-up game before the examination and tests. Although this tradition began as a process to reduce Dillon’s anxiety and fearfulness, it seems to be a welcome distraction for the doctors, staff and patients, always resulting in laughter, joyfulness and a sense of hope echoing throughout the hospital corridors.
Dillon continued to decline during the first five weeks on Zavesca. During the sixth week, we noticed that Dillon was not falling as often and was maintaining his balance while running. At the present time, Dillon has been taking the drug a little over two years. His significantly enlarged spleen has not been reduced, but more remarkable, it has not increased. We believe the drug has slowed the disease progression, but as Dr. Patterson said, it can not be determined if it’s the drug or Dillon having learned to compensate for his sea legs. NPC has over 250 mutations so it is difficult to prove if it’s the drug slowing the progression or the natural course of this particular mutation; we can only speculate. To test the theory, we would need to stop the administration of Zavesca.
Dillon is enrolled in a research study at the National Institutes of Health (NIH). Its purpose is to evaluate a series of clinical and laboratory tests that might be useful in a subsequent study to determine if an investigational drug is effective in slowing the progression of NPC. The first phase is to collect consistent clinical information on NPC patients to establish the necessary 1 or 2 biomarkers for determining if a drug is working or not during a drug trial. Such biomarkers may lead to FDA approval of a drug for NPC treatment. In January 2008, Dillon completed his second year in the study.
Dillon endures 3 intense days of testing annually. Although we understand the importance and significance of data collection, we cannot contain the emotions that overtake us when we subject our young child to a 3-4 hour sedation to perform the MRI spectroscopy, lumbar puncture, and auditory brainstem evoked response exam. Physically Dillon is quick to recover. However, we have noticed that in the past year he must be reassured regularly that we are not going to the hospital. For example, when going through airport security Dillon quietly said to the gloved security agent that he did not want his blood taken; and, when the car mechanic said that he would need to perform a diagnostic test, - Dillon began to cry. It’s heartbreaking that a child carries such worries. We are so fortunate to have Dr. Porter, Nicole and all the wonderful physicians involved in this study. Dr. Porter seems encouraged with the number of participants and the data collected so far. We hope that each test brings us closer to a treatment.
Dillon is currently unaware of his condition as he goes about his daily routine of elementary school and baseball practice. Family, friends, doctors, and classmates are encouraged that one day soon a cure will be found for this terrible debilitating disease. Unfortunately because the disease is so rare, it receives little attention or funding. Government and private drug companies too often look at such numbers and say no to the funding required to find treatments and cures. No parent should suffer the tremendous heartbreak of the gradual decline and certain death of their child, merely because of grants being denied due to the rarity of the disease. Our hope comes from the National Niemann-Pick Disease Foundation, Ara Parseghian Medical Research Foundation, NPC researchers, NPC families, and our family, friends, neighbors, Dillon’s classmates, and community who refuse to give up the “Fight For A Cure” by promoting NPC awareness to accelerate and encourage research funding . It is astonishing that in 14 months you have raised over $95,000 for the National Niemann-Pick Disease Foundation toward Type C research in honor of Dillon.
Your continued thoughtfulness, kindness and generosity not only provide us strength and encouragement each day, you provide us the greatest gift of all – “The Gift of Hope.”