Connecting with a Genetics Provider
One of the first and most important steps is connecting families with a genetics provider who can help them understand both conditions together. For example:
- The chance of each condition based on genetic screening results
- Whether and how the conditions may interact with one another
- The range of what can be expected medically and developmentally
Families can find a genetic counselor through the National Society of Genetic Counselors (NSGC) search tool. Additionally, Genetic Support Foundation offers telehealth genetic counseling across all 50 states, which can help fill genetic healthcare access gaps in underserved areas.
Connecting With Other Condition-Specific Organizations
Families need to connect with both Down syndrome organizations and organizations/communities focused on the co-occurring condition. If local resources are limited, national organizations can be an excellent starting point. Helpful directories and information hubs include:
Static Resources
Families may come to you for resources after their baby with Down syndrome is diagnosed with another condition. Families may also come to you because they have another child with a different diagnosis and you are a trusted source of information.
It is always best to look for resources from advocacy and support organizations, which tend to be more balanced and family-centered. Be cautious of purely medical materials that may present a deficit-focused perspective.
Trusted places to find high-quality, family-friendly resources include:
- Lettercase: Offers free, balanced, and medically-reviewed resources on a number of genetic conditions in multiple languages
- Klinefelter syndrome
- Turner syndrome
- Jacobsen syndrome
- Prader-Willi syndrome
- Spina Bifida
- Directory of resources and support groups for other genetic conditions
- Genome.gov (National Institute of Health)
- MedlinePlus (National Library of Medicine)
- National Organization for Rare Disease (NORD)
Supporting Families After Loss
Dual diagnoses may involve more medical complexities and a higher chance of miscarriage or early loss. Providing resources early to families who experience loss can help them feel less isolated and navigate this difficult time.
Helpful supports include:
- Down Syndrome Pregnancy: Coping with Loss (focused on Down syndrome)
- Courageous Parent Network: Coping with Loss
- Postpartum Support International: Mental health support for parents experiencing grief, depression, or anxiety
Dual Diagnosis: Autism
Approximately 8-18% of individuals with Down syndrome are also diagnosed with autism spectrum disorder. Having features of both conditions may cause these families to feel “left out” of both communities, making it especially important to connect them with tailored resources.
Helpful resources include:
- Down Syndrome-Autism Connection: Community and resources specifically for co-occurring Down syndrome and autism.
- When Down Syndrome and Autism Intersect: A Guide to DS-ASD for Parents and Professionals: Book written by Margaret Froehlke, R.N. (mother of a child with DS-ASD and former Executive Director of the Denver Adult Down Syndrome Clinic) and Robin Sattel Zaborek (mother of an adult son with Down syndrome and a daughter with DS-ASD, and co-founder of the Down Syndrome-Autism Connection).
- Down Syndrome Education: Autism and Down Syndrome: Educational article by Sue Buckley addressing the questions “how many children with Down syndrome also have autism and how do we meet their needs?”
