What is a rare disease (RD)? It might seem to be self-evident, but “rare disease” has a specific definition. The US Food and Drug Administration defines an RD as one that affects fewer than 200,000 people in the United States. As few as 5 people, or as many as 200,000, could have the same RD. Altogether, the National Institutes of Health estimates that more than 7000 RDs exist, and they affect 8% to 10% of the population, more than AIDS and cancer combined. It is a staggering number of people. However, without any kind of centralized reporting system, the number of people affected by RDs can only be estimated, and it could easily be much higher than we think.
When we consider RDs in the newborn, we often think of the rare inherited metabolic disorders such as those on the newborn screening panel. However, metabolic disorders are only 1 category of RDs. RDs also encompass endocrine disorders, neurological disorders, rare cancers, rare infections, chromosomal abnormalities, rare syndromes, isolated birth defects, and many other diagnoses.
Every neonatal nurse has taken care of infants with RDs and will take care of many more in the course of his or her career. You might never see a baby with STAR syndrome or Pentalogy of Cantrell, but you might, even tomorrow, see one with Turner syndrome, congenital adrenal hyperplasia, or a fatty acid oxidation disorder. The core principles of caring for the family of a neonate who might have, or is known to have an RD, are the same, regardless of the type of RD. These principles include a systematic approach to the evaluation of the neonate who presents with symptoms consistent with an RD, and 2 articles in this issue, contributed by authors from Children’s National Medical Center in Washington, District of Columbia, outline such an approach. These authors also emphasize that multidisciplinary teamwork is the foundation of care in RDs. Most families will meet with a long line of specialists and subspecialists while they are in the neonatal intensive care unit (NICU), and their infants will undergo many complicated tests. Clear communication is vital to prevent misunderstanding, confusion, and false hopes on the part of the parents. When an infant is being evaluated for a possible RD, the early involvement of metabolic specialists and/or clinical geneticists is invaluable.
Many RDs are fatal, and still more have no specific treatment or cure. These situations must be handled with skill and sensitivity. The care of children who are living with RDs largely involves management of symptoms and prevention of complications, with the goal of maintaining the highest quality of life possible. It is extremely important for neonatal caregivers to understand that although neonates with RDs might be discharged from the NICU in relatively “good shape,” by our typical criteria, these diseases can worsen and become more complicated as these children grow. Some will undergo frequent hospitalizations; others will require a series of surgeries. Some children will leave the NICU before even receiving a definitive diagnosis, meaning that these families have to cope with a continuation of laboratory tests, imaging studies, biopsies, and other forms of evaluation, all on an outpatient basis. Many families will have to travel great distances at enormous personal expense to consult with experts in their child’s particular RD. As NICU caregivers, we are witnesses to only a tiny fraction of what families will experience with their children with RD. Families are not out of the woods when they leave the NICU, and it is vital for us to have an understanding of what they are likely to face in the future. Two articles in this issue were written or cowritten by parents of children with RD, who generously share a perspective that we are privileged to learn about.
Families are embarking on a long, tough, and frustrating road. Their endurance and faith will be tested daily. We can help by sending them down that road with the best possible information, guidance, and support. Within a relatively short period of time, these families will know far more about their children’s RD than we do. They will become the experts, and rightly so. With thousands of RDs, few healthcare professionals can develop expertise in all but the most frequently encountered of the RDs, so the parents are in the best position to be their child’s advocate, to understand their child’s RD, and to partner with specialists to find the best treatment. They should not only be permitted, but encouraged, and mentored to do so. At the same time, especially during the first days and weeks of life, we must help parents sift through mountains of information and find what does and does not apply to their situation. In this era known as the information age, parents can rapidly become overwhelmed and discouraged by what they read about their child’s RD.
Fortunately, for most RDs, valuable and useful resources exist. Neonatal caregivers should become familiar with NORD (the National Organization for Rare Diseases; www.nord.org), because it is a superb, reliable starting point for both parents and healthcare professionals to learn about RDs. Through NORD, parents can find out about new drugs and treatments, clinical trials, advocacy opportunities, and patient registries, which are the best way for the scientific community to advance treatments for RDs today.
As you read these articles, think about the infants and families you have cared for in the past. No doubt, much of what you read on these pages will prompt memories of babies and families who spent time in your NICU at the start of their journey with an RD. What you read might resonate with your experiences of the past and reinforce what you learned from those experiences. What you read will certainly be of value to you when you go to work tomorrow and admit another newborn who might have an RD.