Children who have a a genetic condition are likely to pass through many transitions, including frequent educational transitions, as well health care transitions that occur as they move from pediatric to adult health care.

By transition, we mean a change or passing from one setting/grade/care system, etc., to another. This includes the transitions from early intervention to preschool, preschool to kindergarten, high school to adulthood, and more. Transitions are an "ongoing, collaborative process that involves preparing for, facilitating, and adjusting to a shift" to more and more independence, according to the NCC (National Coordinating Center for the Regional Collaboratives, now National Coordinating Center for the Regional Genetics Networks) health care transition definition. 

The impact of transitions not only affects the child but also the family. Often parents have become accustomed to trusted allies/staff and have to end those relationships and forms new ones.

These topics may be helpful with regard to either educational or health care transitions. 

Definition of transition from the Individuals with Disabilities Education Act (IDEA):
Transition services means a coordinated set of activities for a child with a disability that:  

  • is designed to be within a results-oriented process, that is focused on improving the academic and functional achievement of the child with a disability to facilitate the child’s movement from school to post-school activities, including post-secondary education, vocational education, integrated employment (including supported employment), continuing and adult education, adult services, independent living, or community participation;  
  • is based on the individual child’s needs, taking into account the child’s strengths, preferences, and interests; and includes:
    • Instruction
    • Related services
    • Community experiences
    • The development of employment and other post-school adult living objectives; and  
    • If appropriate, acquisition of daily living skills and provision of a functional vocational evaluation. 

Transition services for children with disabilities may be special education, if provided as specially designed instruction, or a related service, if required to assist a child with a disability to benefit from special education. Some examples of ways to ease academic transitions include bringing your preschooler to the Kindergarten park to play, inviting future classmates for 1:1 play-dates before classes begin, and taking photos of the new classroom environment to create a story book. Turning big transitions into smaller steps can make the process go more smoothly.

Definition from the National Coordinating Center for the Regional Genetic and Newborn Screening Service Collaboratives (NCC), updated 2013

(Created by David N. Entwistle, Psy.D. and Susan E. Waisbren, PhD.; vetted by National Coordinating Center Transition Work Group)

Transition is an ongoing, collaborative process
 that involves preparing for, facilitating, and adjusting to a shift 
from pediatric-centered healthcare to adult-centered healthcare.

This definition emphasizes collaboration in which healthcare professionals support young people and their families in recognizing the benefits and process of moving from pediatric-centered to adult-centered healthcare, encompassing medical care, educational/vocational adjustments, and social adjustment.  Medically, healthcare transition does not always mean transfer of care, but rather a shift in how care is provided.

  • Young people need to gradually assume more responsibility for their healthcare choices and treatment.
  • Families need to negotiate developmental issues as the young person gains independence from parents.
  • Assistance may still be required but may come from roommates, friends, spouses or home health aides.

Successful transition requires conversations with the young person and the family in a developmentally appropriate and culturally sensitive manner. Transition planning must also address educational and vocational plans, taking into account the ability of individuals to exercise independence medically and in terms of their ability to manage finances and activities of daily living. 

  • Individuals should be encouraged and supported in their educational and occupational pursuits and in obtaining accommodations for their medical needs, as appropriate.  
  • Individuals who have cognitive limitations and/or difficulties meeting self-care needs should be supported to obtain long-term planning about living situations, financial support and legal guardianship, as needed.

Socially, healthcare transition involves coming to terms with issues related to friendships, dating, sex, reproduction, and life expectancy, among others. Moreover, parents and healthcare providers need to recognize the age-appropriate task of young people to establish an identity apart from the diagnosis.

  • Providers need to be cognizant that young people may engage in exploration and risk taking before accepting new responsibilities and commitments. 
  • Therefore, the goal for healthcare providers is to establish a safety net and support system, as well as uninterrupted, comprehensive, culturally sensitive, and coordinated care.

Healthcare Transition for Young Adults

Regarding healthcare transition, these concepts are especially important:

  • Transition does not always mean transfer of care, but rather greater autonomy in healthcare decisions and greater independence in caring for one's own medical needs.
  • Healthcare transition is connected to attainment of a sense of identity, separate from one's parents and one's health condition. 
  • Self-advocacy and empowerment facilitate the transition process and can be learned.

There are also special issues to consider, including:

  • Difficulty finding providers beyond the pediatric years, who are willing to take on rare and complex cases
  • Fear of parents to let go 
  • Reluctance of young people to disappoint the parents who have cared for them so well, while at the same time wanting to forget they have a health condition and refusing treatment

  • A successful transition is acknowledged and processed as a transition for everyone, not just the youth.
  • The needed planning is thoughtful and spans from before the transition, through the transition.
  • The whole life of the person should be considered: medical needs, hobbies/interests, family and social life, sexuality, vocational and educational needs, career interests, sports and leisure activities.  
  • It is about stretching into independence on a pathway that makes sense for that individual.
  • Parents remember to make quality time for other children in the family.

  • Think in terms of goals – short term, medium and long term
  • Connect with other families going through the same thing

General medical:

  • Learn to make appointments
  • Learn about using insurance cards, co-payments
  • Be prepared for emergency room visits (what might doctors need to take care of you)
  • Identify who can help when needed
  • Begin to understand funding issues
  • If appropriate, consider the issue of full or partial guardianship

  • For young people, or for people of any age, it means having a feeling that 'I am more than my diagnosis!”
  • This sense of self translates into more confidence later on for things like:
    • asking questions at the doctor’s office
    • making friends/creating social supports
    • making plans for the future
    • choosing to follow medical advice because it ultimately helps with real world goals (relationships, car, apartment, etc.)

For all:

  • Start in the early years by helping children develop their ability to make choices.
    • Ask questions and offer choices, such as “Which of these healthy snacks do you want for recess?”, or “What do you want to tell your doctor at your visit today?” As a young person matures, the questions will have more complexity.
    • Remember that what is important is not only the answer, but also the process of thinking through options and making choices for themselves.
  • Help young people know who they are by encouraging interests in activities, sports, or hobbies.
    • Help them connect to others with similar interests.
  • Understand it is normal development to make mistakes or challenge the “rules”, even if those rules are about following important medical advice.
    • Provide opportunities to help young people learn from their mistakes when they happen.
    • Riding a bike is a good metaphor: children try and fail but learn it eventually.

    Especially for parents:

    • Look for ways for young people to be involved in typical activities.
      • One example, Including Samuel, demonstrates how a young boy is included at home and school, even playing baseball as friends push his wheelchair around the bases.
    • Parents, too, need identities beyond being parents of a child with a condition.
    • Sometimes it's good to ask yourself if you are pushing your child to do something because it is what you want, not necessarily what your child wants.
    • It is good to ask yourself if you could be holding your child back because of your own fears, not your child’s.

      Especially for schools:

      • Support parents as they grapple with their child’s increasing independence.
      • Support greater independence for students in school.

      From a psycho-social standpoint, young people may engage in exploration and risk taking before they are able to accept new responsibilities and commitments. Developmentally, it’s part of growing up!

      • Understand it is normal development to make mistakes or challenge the “rules”, even if those rules are about following important medical advice.
      • Eliminating risk might also eliminate opportunities to learn.
      • Try to identify acceptable parameters for safe risk-taking and getting out of one’s comfort zone. Here’s one example:
        • Some students will want to go away to college but have never been away from home. What steps can they take as children and teens to help them begin to make that break?
          • Overnight camp
          • Overnights with friends
          • Going to a relative’s home for a few days
        • In this example, make sure the children help make a checklist of what they need, and then pack the items. This is teaching them how to plan and how to get organized, important life skills for anyone.
        • Make sure to chat through a few 'what ifs' so they can come up with a Plan B if needed.
          • What if you run out of toothpaste?
          • What if you miss the bus?

      Many of the conditions featured on GEMSS do have important implications for puberty and sexual development. When this applies, you can find the information under the heading of the condition. 

      For additional information, please visit It is a key, federally funded website for insights on successful transitions.