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Frequently Asked Questions

Genetics

I do not see a condition listed. How do I suggest a condition to be included?

We will be adding conditions over time and will depend upon readers' input for which conditions will be included. If you would like to suggest a condition, you can email Karen Smith, New England Regional Genetics Network Project Coordinator.

A child we know is undiagnosed but it is thought that he may have a genetic condition. Can I get help on this site?

See "Undiagnosed Medical/Developmental Conditions” , also found at the bottom of the list of conditions. This page provides general information with examples of supports for children who may have a genetic condition. 

I don't understand very much about genetics in general. Is there a place I can go to learn some very basic information?

You can go to the Genetics Home Reference where you will find the “Help Me Understand Genetics” handbook, a helpful beginner’s guide to genetics.

 

Where did you get your information?

The information included on this website was obtained from various general sources such as the National Library of Medicine, the National Institutes of Health, the Genetic Alliance and genetic texts. 

The process for constructing the information first included content that was researched and compiled by a genetic counselor with a background in education. This was then reviewed and edited by a doctor who is a genetic specialist, by an inclusion specialist, a parent, special education teacher, our entire Education & Outreach Work Group, and finally, by condition-specific advocacy groups.   

Where can I find more information on family health history?

Family health history is important to your health.  It is a collection of information about diseases that run in your family, as well as information about the lifestyle (e.g., eating habits, activities, etc.) and environment that your family shares. Knowing about diseases that run in your family can help you make healthy choices to prevent or lower your disease risk.

National Coalition for Health Professional Education in Genetics (NCHPEG)

Genetic Alliance

Surgeon General's Family Health History Initiative

My Family Health Portrait - a tool from the Surgeon General

What is a genetic counselor, and what happens when I see one?

Genetic counseling is the process of helping people understand and adapt to the medical, psychological and familial implications of genetic contributions to disease. This process integrates the following: interpretation of family and medical histories to assess the chance of disease occurrence or recurrence, education about inheritance, testing, management, prevention, resources and research, and counseling to promote informed choices and adaptation to the risk or condition.

Genetic counselors are health care professionals with specialized graduate training in the areas of medical genetics and counseling. Genetic counselors usually work as members of a healthcare team, providing information and support to families who have members with birth defects or genetic disorders and to families who may be at risk for a variety of inherited conditions.

Here are some common reasons people speak with genetic counselors:

  • I have a family history of a certain health condition, is there a genetic test I can take to find out if I’m at risk?
  • My partner and I are planning a pregnancy, what types of testing are available to us?
  • I have a known genetic mutation in my family, what can I do?
  • I have a medical condition and want to learn whether I could pass it to my children.
  • Can you help me share my genetic information with my relatives, or with my doctors?
  • Genetic counselors can also work with your physicians or other healthcare providers to make sure your genetic information is effectively considered in your overall health care.

What happens when I see a genetic counselor?

Most genetic counseling is provided in-person to an individual, couple, or family, typically in a clinic or doctor’s office.  Depending on the specific reason for your consultation, the genetic counselor may:

  • Review your personal and family medical history
  • Identify possible genetic risks and discuss inheritance patterns
  • Review appropriate testing options
  • Discuss prevention strategies, screening tools, disease management
  • Provide genetics-related information and reliable resources
  • Provide supportive counseling that may help you with topics that arose during the consultation.

National Society of Genetic Counselors

I am really interested in genetics. How do I get involved?

There are many ways to get involved in genetics.  Please check the Resources section on each condition to find links to support groups and sites where you can find additional genetic information.

You may also consider getting involved through your Regional Genectics Network. In New England, it is the New England Regional Genetics Network. Click here to see the other six regions around the country.

What is a Medical Home?

A good medical home is a medical practice that makes a family/person feel that they are being well-cared for in a way that is family-centered and in tune with and respectful of their needs and desires. The medical practice becomes a coordinating force in the care of the individual/family. It is an approach, not an actual home.

Medical Homes are not just for individuals with genetic conditions. 

For more information, see:

Education

Where can I learn more about IFSP, IEP, and 504 Plan?

Click here for in-depth information about Individualized Family Service Plans (birth - age 3), Individual Education Plans (age 3 - 21), and 504 Plans.

Can you help us with ideas for creating a smooth transition from Early Intervention to Preschool and Preschool to Kindergarten?

There are many educational transitions that a child who has a genetic condition may pass through.

  • Early Supports and Services (Early Intervention) to preschool
  • Classroom to classroom at end of year
  • Within one class but to new environments outside the classroom
  • Preschool to Kindergarten
  • Elementary to Middle school
  • Middle to High School
  • High school to secondary, vocational school, workforce
  • New teacher or new paraprofessional mid-year

Sometimes the transitions are as hard on parents as they are on children because it means leaving one trusted source of support and beginning a new relationship with new people who might be unknown. Entrusting one’s child to others is a huge leap of faith for parents, and meetings are one way to help make the transition smoother. Meetings are a way to get to know the team members and build trust.

Since we are focusing most strongly on the early part of the educational journey on this website, here are some examples of how early transitions might go more smoothly. It is all in the planning! And thinking through what the child, teachers, AND parents might need to make this successful. Each child is so different, so plan as much or as little as you need to based on the unique needs of the child, educators, and parents. In GEMSS, the conditions in which there are particular difficulties with transitions, these needs are addressed in more detail.

  • Minimize the impact of a change by turning it into smaller steps.
  • Well before the transition is to take place, take pictures of the new place, new people. Weave them into stories with pictures and use the stories at school and at home.
  • Have the child visit the new place several/many times if you need to.
    • Play in the playground
    • Visit the classroom
    • Use the bathrooms/changing area
    • Have the child take pictures of the new spots and make a story
    • Visit the school nurse
    • Eat and play with people there
  • Enhance relationships
    • Encourage play time with children who are also moving through the transition at home and school
    • Have parents and educators meet before hand, maybe over several sessions.
  • Plan for all the needs of the child: safety, health, communication, therapeutic, social, academic, etc

    The driving question for all the team should be: What supports does (child’s name) need to be successful?Then ask the same question about the parents and classroom teacher!

    What is inclusive education?

    According to a group called “Kids Together, Inc.,

    “Inclusion is part of a much larger picture than just placement in the regular class within school. It is being included in life and participating using one’s abilities in day to day activities as a member of the community. Inclusion is being a part of what everyone else is, being welcomed and embraced as a member who belongs. It is being a part of what everyone else is, and being welcomed and embraced as a member who belongs. Inclusion can occur in schools, churches, playgrounds, work and in recreation.”

    So, for a student who has a genetic condition, inclusion means being part of the life of a typical classroom and receiving any supports or modifications needed to be successful in school. For more information on inclusion, see the resources page.

    What kind of communication supports might be helpful?

    The type of supports needed for each individual child will vary, even within a condition. It is important that the team work together and find out which communication supports will be necessary to help that child communicate in all settings. The child might need access to augmentative and alternative communication. According to the American Speech and hearing Association,“Augmentative and alternative communication (AAC) includes all forms of communication (other than oral speech) that are used to express thoughts, needs, wants, and ideas. We all use AAC when we make facial expressions or gestures, use symbols or pictures, or write.”

    You can learn more about AAC by following the links in the resources section on AAC.

    What is Assistive Technology and how might that be helpful for a child who has a genetic condition?

    Assistive technology is any kind of technology or device that helps a student have better access to their surroundings, whether it be for communication, mobility, or learning, etc. Some examples include a wheelchair, Braille reader, cane for walking, grab bars, hearing aids, or a voice-output device for communication. Assistive technology can be bought new, or be home-made, created by users, teachers, parents, etc.

    What is a Functional Behavior Assessment (FBA)?

    A functional behavioral assessment, when used in the context of positive behavioral supports, is a method of developing an understanding of the function (purpose) of a person’s challenging behavior and identifying positive ways to help the person have more effective and efficient ways of getting their needs met, preventing the occurance  of the behavior and changing other’s responses so the behavior isn’t reinforced.

    Here are some resources related to Functional Behavior Assessments:

    How can I learn more about the policies in my state and about advocating for my child?

    Every state in the USA has at least one Parent Training and Information Center (PTI) to offer families information on your child’s disability, early intervention, school services, therapy, local policies, transportation, and much more. To find your state’s center, go to the Center for Parent Information and Resources.