Learning About Diagnoses

Although the Medical Home Portal is not designed to help with making a diagnosis, it does offer resources for the steps that come after learning your child’s diagnosis. Your child’s primary care physician or Medical Home Provider should be the best resource for determining your child’s diagnosis. When you have a child whose development is delayed or who has chronic medical problems, not knowing the cause or not having a diagnosis can be frustrating, but once your child has a diagnosis, there will be new emotions to deal with, as well as new roles for parents and other family members. The Portal can be useful in navigating available information and resources and the Learning About Diagnoses section should help you get started.

Parents may have questions about how to cope with their child’s diagnosis on an emotional level, and sometimes the emotional impact of a child’s medical problems can be challenging for parents and family members. Talking about reactions and experiences with support groups or professionals can be very helpful, not only for parents, but also for siblings, and even extended family members.

Though each child’s situation is unique and parents’ reactions will vary, some common feelings include anger, sadness, disappointment, fear, denial, rejection, guilt, and sometimes even a feeling of complete lack of control. No matter what emotions family members may experience, it’s important to know that those reactions are normal. Many families have been through those very same emotions, feelings, and reactions.

Each parent and family member may have a different reaction, which is why it’s important to be patient and understanding with spouses, grandparents, and others. Single parents may find it difficult to wade through the emotions surrounding the diagnosis process alone, but it’s important to know that support is available. There are many support groups for parents of children with disabilities, some of which are specifically for single parents.

The initial period of evaluation for a suspected chronic health care condition is often very difficult for parents and family members. It may take weeks or months of testing and subspecialist evaluations before a diagnosis is made. In some cases, testing does not provide a formal diagnosis. When a diagnosis is made, parents and family members often experience shock and disbelief. Most physicians make every attempt to deliver sensitive diagnoses in a compassionate manner, but some styles of communication may lead to misunderstanding of a child’s condition and increase family stress. Caregivers may misinterpret written materials presented to them. Parents should review information they have read with their physician or specialist before making assumptions regarding a potential complication or prognosis. Parents may also realize that the “normal” goals and dreams they have had for their child may never happen – while this may be true, it also represents an opportunity for families to come together to create new goals and dreams.

Mothers often assume the role of primary caretaker for their chronically ill child, which can be exhausting and may create difficulties for both parents. Fathers may not feel included in their child’s daily routine, which can lead to feelings of distance between family members. While parents typically form a strong bond to their child regardless of the diagnosis, they may still struggle with the idea that their child may never experience certain milestones like prom, wedding, or even having a family of their own.

Siblings of a child with chronic or terminal illness often experience much of the same reactions as parents. Siblings have a special bond with one another and when one isn’t well the other(s) may be deeply affected. Siblings also experience a kind of loss when they realize the expectations they have for life with their sibling will have to give way to new expectations.

The first step in accepting a diagnosis of a chronic childhood illness in the family is the realization that parents and family members are not alone in their experiences. The next step is learning how to cope and thrive.

No matter the reaction you and your family may have to your child’s diagnosis, your child is still your child, not just a diagnosis. Never give up hope for your child. While the initial plans you had may change with a diagnosis, that doesn’t mean you can’t have new plans, dreams, and goals for your son or daughter.

There are many mechanisms of coping that involve multiple aspects of life, including the psychological and physical. Good mental coping skills may sound simple, but when faced with a tough diagnosis it can be easy to forget these everyday tools, such as using your imagination and looking for the humor in complicated or overwhelming situations. Approach problems head on, and realize that sometimes you may have the answer but, if you don’t, it’s never a bad idea to seek out help.

Much information is available (see Internet Resources and Information Support sections) on coping with a new diagnosis, but less is written on how to thrive despite the diagnosis. Although life has changed and taken an unexpected direction, there are still positive outcomes to be expected for you and your child. Sometimes positive outcomes can be as simple as recognizing the everyday joys in life and appreciating the love you and your child have for each other.

Caring for a child with a chronic condition or developmental delay can be stressful and may take a toll on a parent’s physical and mental health. Recognizing your own needs for support, help, health, and comfort can be difficult when you’re focused on your child’s needs, but realize that caring for yourself is just as important as caring for your child. Give yourself time for regular physical activity. Listen to your body and don't ignore signs that it might be time for you to contact your doctor. Recognizing your own issues and needs is the first step; learning to ask for help is the next. Your child’s Medical Home may be helpful in identifying common needs and finding help. Let your child’s physician know how you’re feeling and be willing to work with him/her for sources and ways to receive help.

The role of the primary care physician for a child with special health care needs is exceptional. It is important to establish a working relationship with your child’s physician, as she/he will be responsible for providing health care, information on your child’s diagnosis and treatments, coordinating the care provided by others, and supporting you as parent and caregiver. Make sure you are comfortable with your child’s primary care physician as a medical expert and as someone you can communicate with and trust. The Medical Home approach to care involves collaboration among parents, physicians, and other care providers on the child’s behalf.

It’s essential that you take an active role in your child’s healthcare. Ask questions and make it a point to stay informed about your child’s condition and treatment options. It is a good idea to ask your child’s physician about information you’ve read concerning the diagnosis, treatments, and other related problems. Even the most committed physician faces difficulties in keeping up with the latest scientific and practical information, especially about conditions that are uncommon. Give your physician time to review material you bring to their attention before expecting an in-depth discussion. Your physician and other healthcare providers should welcome the information you share and be appreciative of your willingness to help them help your child.

Much information about specific conditions and their care is offered in the Medical Home Portal's "Diagnoses & Conditions" section. Although that section is written primarily for physicians, we hope that families will also take advantage of its information. The menu of the diagnoses for which Modules have been developed can be viewed at Diagnoses & Conditions.

This Learning about Diagnoses section is intended to provide brief answers and explanations about very complex situations and issues. However, there is much more information available, and it’s recommended that parents invest time in learning more about these issues. For more in-depth information on the subjects discussed in this section of the Portal, please consider the resources at the bottom of this page.

The Internet is a great source of up-to-date health statistics and information about treatment options and much more, but the amount of information can be overwhelming and the information you find may not be reliable. To get the most out of the available resources, you need to be a wise consumer and learn to evaluate the reliability of information. The guidelines that follow focus on assessing the reliability of web site information, but the questions may also help you determine the quality of information in books, magazines, and other printed material.

In addition to the Medical Home Portal, the links below can be trusted to offer high quality information on various levels - the first five are best for those just beginning to learn about a diagnosis and the last is for those seeking a more extensive understanding of the condition.

• MedlinePlus
  This site provides authoritative and up-to-date health information from the world's largest medical library, the National Library of Medicine. Click on 'Health Topics' to find an extensive list of valuable links to reliable sources of information on your condition of interest. The 'Medical Encyclopedia' provides a brief summary of relevant information on each condition, and the 'Dictionary' offers definitions of many medical and other health related terms.
  • MedlinePlus Medical Dictionary
    Comprehensive dictionary created by the National Library of Medicine and Merriam-Webster.
  • MedlinePlus Medical Encyclopedia
    From the National Library of Medicine and A.D.A.M.; a comprehensive medical encyclopedia aimed at consumers, with lots of photographs and illustrations
• HealthyChildren.org (AAP)
  From the American Academy of Pediatrics, offers information and advice about child development, health, and parenting.
• Children's Hospital Boston
  To learn more about many pediatric conditions and the treatment options, visit the Children's Hospital Boston home page and click on 'Child's Health A-Z' for user-friendly information.
• National Organization of Rare Disorders (NORD)
  Provides information about many uncommon conditions, including rare "orphan" diseases, and links to organizations that provide services to individuals with rare diseases.
• KidsHealth
  Click on 'Parents', 'Kids' or 'Teens' to use the Nemours web site 'search' box where you can enter the terms you are researching. The results are listed and marked with 'Parents', 'Kids', or 'Parents' to indicate the level at which the information is written.
• healthfinder.gov
  This is an award-winning Federal Web site for consumers, developed by the U.S. Department of Health and Human Services together with other Federal agencies. Enter your term in the search box for easy to use definitions and current information.
• Genetic and Rare Diseases Information Center (GARD)
  Created in 2002 by the National Human Genome Research Institute (NHGRI) and the Office of Rare Diseases Research (ORDR) - two agencies at the National Institutes of Health (NIH) - to help people find useful information about genetic and rare diseases. GARD provides access to experienced information specialists who provide current and accurate information - in both English and Spanish - about genetic and rare diseases.

Parents who are equipped with good information about their child's diagnosis and condition are better able to actively participate in the Medical Home team, ensuring that their child receives the best care possible.