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 Genetics Collaborative Project Coordinator.
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.
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.
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.
My Family Health Portrait - a tool from the Surgeon General
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.
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 Collaborative. In New England, it is the New England Genetics Collaborative. Click here to see the other six regions around the country.
We are still looking for children and families for the "Meet a Child" pages cooresponding to the conditions below. Perhaps you or someone you know know can help! If so, please contact us and we'll see if it's a good fit.
In our stories, we like to include ways in which families and schools successfully worked together, advice for parents, and advice for teachers.
- Congenital Heart Defects
- Kabuki syndrome
- Klinefelter syndrome
- Marfan syndrome
- MECP2 Duplication
- Rubinstein Taybi syndrome
- Smith Magenis syndrome
- Russell Silver syndrome
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: