Last summer, a group of scientists convened to discuss the issue of how families of children with CAH were making decisions about the medical treatment their children receive. We were aware of how hard it can be, in the case of daughters, to make decisions about whether or not genital surgery is needed and, if so, what type, and whether surgery should be done immediately or delayed. Moreover, issues around medical care are a continuing question for all affected children. We wanted to explore whether there were ways families could be helped to make decisions that would ultimately lead to healthier children and less stress for families. The research we conducted is a first step toward that goal. Included in the research team are Laura A. Siminoff, PhD, a public health social scientist who does research in health communications and decision making, David E. Sandberg, PhD, a pediatric psychologist, researcher and expert in the psychological implications of CAH, Barry Kogan, M.D., a pediatric urologist, Phyllis Speiser, MD, a pediatric endocrinologist, and Miriam Schuchman, MD, a psychiatrist and bioethicist. Mary Beth Mercer, MPH later joined the team as the Research Coordinator and has been instrumental in collecting the data and analyzing it.

We decided that we first needed to understand how families are now making health care decisions for their children and to learn what the issues are from their perspectives. We interviewed with 10 family units who were recruited at the 2005 CARES Foundation Conference. The interview was designed to allow parents to tell us about their experiences in their own words. Several issues emerged that are helping to shape the direction of future research.

First, we found that the day-to-day medical management of CAH was paramount to parents. Because CAH is a serious, potentially life-threatening condition that requires medication several times a day and constant monitoring, effective communication with healthcare providers and informed decision making about medical management is key to helping families keep kids healthy and maintain normal activities. Parents reported that information they received from healthcare providers was often incomplete and inadequate for their needs as parent caregivers and decision makers. Therefore, they supplemented their knowledge with books, websites, and organizations (such as CARES) and from speaking with other parents of children with CAH. Parents also underscored the need to be informed consumers of healthcare. This was most evident in their constant quest for comprehensive up-to-date information on monitoring their child’s condition and what medical and surgical treatments of CAH should be pursued. Because of the rarity of CAH, many had difficulty finding a knowledgeable endocrinologist to provide effective on-going medical management of their child. A number of parents reported continually seeking the most qualified endocrinologists and urologists to ensure their children receive state of the art care.

In addition to daily medical management, parents of girls with Classical CAH must also navigate decisions about surgical treatment. Parents reported some problems with healthcare providers including receiving incomplete or contradictory information on a variety of issues including the necessity of surgery on the external genitalia, optimal timing for surgery, surgical procedures and aftercare. Parents are looking for the most experienced surgeons who are also effective communicators of potential risks and benefits associated with different surgical options. This approach allowed parents to be actively involved in decision-making. Some parents reported postponing surgery until they felt comfortable that they were fully informed and until they found the “right” surgeon. Parents’ decisions were usually focused on the timing of surgery (infancy vs. pre-puberty) and which surgeon should perform the procedure. There are also questions as to how much to include older children in decision-making and whether it is better to delay surgery until the child (or teenager) can have input.

The following themes emerged as important and relevant to parents’ experiences:

Partnership: Parents expressed a real desire to be in partnership with their children’s healthcare providers in terms of monitoring their children’s health, communications about managing symptoms and treatment, surgical interventions and overall inclusion in decision making about their children’s care. Many parents expressed the need to be taken seriously by their children’s healthcare providers and stated that they ‘know their children best’. When this occurs, they can work quite effectively with the healthcare providers to ensure that their children are well monitored and treated.

Advocacy: Parents take on the role of advocate for their children in order to ensure that they receive appropriate monitoring and treatment. Parents who are well informed and assertive with their children’s healthcare providers feel empowered in managing their children’s CAH. However, these parents also expressed frustration that they are often more informed than the endocrinologists, surgeons, and pediatricians. Almost uniformly, parents mentioned that their general pediatricians were unable to provide anything more than emotional support. Parents complained that many of the endocrinologists they dealt with really did not understand the illness—that their children were either over— or undertreated. They also felt that symptoms were ignored or misinterpreted. Surgeons were often reported to be noncommunicative and failing to present the full range of options. Finally, parents expressed concerns about their children’s right to privacy and respect during physical examinations and discussions in front of or with the child. Parents expressed ambivalence as to how to advocate for appropriate privacy without insulting healthcare providers or sounding uncooperative.

Credibility and Trust: Many parents reported difficulties finding physicians who were knowledgeable and experienced in effectively managing children with CAH. They expressed a reluctance to fully trust the information they received from the healthcare providers and to fully trust their ability to provide optimal care to their child.

Normalcy: Many parents reported the need for their children to be ‘normal kids.’ Parents want their sons and daughters’ CAH well managed so they can play and learn and live like healthy children and grow up to be well-adjusted healthy adults. They want their daughters to have normal looking genitals, to be able to function sexually and to be able to have children. We asked parents what they would recommend to parents of a newly diagnosed child with CAH. The following recommendations were consistently given:

1. Get all of the information you can from a variety of resources including health care providers, other parents, CARES, books and websites. Parents reported that speaking with other parents of children with CAH and resources at CARES were particularly helpful to them.
2. Parents should trust their intuition when it comes to their child. The parent knows the child best and can sense when something isn’t right. ‘Follow that intuition and be assertive with healthcare providers and don’t stop until you are satisfied’ said many of our interviewees.
3. Do not blindly trust healthcare providers and assume they are doing what they are supposed to be doing. Doctors make mistakes so it’s important to be informed and aware of what they are doing when providing medical care.
4. Find the most knowledgeable and experienced endocrinologists and urologists and make sure you feel comfortable with those healthcare providers.

CAH is a rare condition and the number of physicians and other healthcare providers experienced with caring for CAH is limited. Many children and their families will live in areas of the country where a local expert does not reside and some will not have easy geographic or financial access to such experts. Initially, decisions are made under very emotional and stressful conditions. The need to think of decision making as an ongoing event is especially relevant to the CAH situation because children with CAH need continuous medical care. It is therefore imperative that patients (and children as they get older) become informed decision makers. One way to help is to develop educational tools and decision aids that can help parents and their healthcare providers systematically think through all the issues around treatment that are very important. These issues must be inclusive of the child and family’s quality of life both immediately and in the long-term. We hope to continue our work and develop such tools.

We thank the participants who so generously shared their very personal experiences and valuable time with us and the CARES Foundation for creating this important opportunity.