Post-Diagnosis Resources

The following resources are for families that have a child diagnosed with a medical condition after newborn screening.

Below is some information on resources that other families have found useful. Hyperlinks to their website are included if you want to learn more. This list covers resources for learning more about newborn screening, connecting with other families who have similar medical experiences, speaking with a genetic counselor, Birth to Three, and Care Coordination.

Connecticut Newborn Screening Network

The Connecticut Newborn Screening Network (called ‘the Network’ for short) can help to connect you with doctors and specialists for treatment, answer questions you may have about your baby’s newborn screening results, and help you find resources in your area. The Network helps families with questions and concerns while follow up testing is done following the initial newborn screen report (often called pre-diagnosis), and will check in at regular intervals after diagnosis to see how your family is doing and if you could benefit from any additional supports. We can be reached by calling 860-837-7870 or or email CNDTN@connecticutchildrens.org.

The Connecticut Newborn Screening Program at the Connecticut Department of Public Health

The Connecticut Newborn Screening Program (CT NBS) is a public health program that screens all babies born in the state for many serious but treatable metabolic and genetic disorders. Your baby’s newborn screening blood spot card was likely tested here. Learn more about the CT NBS and newborn screening in Connecticut here.

Connecticut Children’s Office for Community Child Health

The Connecticut Newborn Screening Network is part of Connecticut Children’s Office for Community Child Health. Through the Office for Community Child Health, Connecticut Children’s works to build stronger child-serving systems and  community services for children and their families. The Office for Community Child Health has a wide variety of programs that promote optimal child health, development and well-being.

Genetic Counseling

Genetic counselors can work with you and your healthcare providers to understand complex genetic information. They can help explain the genetics of a disorder, learn if genetic testing might be right for you or other family members, and help to explain genetic test results. The Connecticut Newborn Screening Network has a genetic counselor on staff who is available to work with families. Learn more about genetic counseling, including how to schedule a free session, here.

Birth to Three

Many of the conditions screened for with the Connecticut newborn screening panel automatically qualify for early intervention services through Birth to Three. Birth to Three staff can help to assess how your baby is developing. They can help identify your child’s strengths, uncover new milestones to celebrate, and support you and your child, as needed. It is a free service. Learn more about Birth to Three here. Your pediatrician or our genetic counselor can also help to get the referral started for your child.

Sparkler

Sparkler is a smart phone app that can help families ‘spark’ their children’s early growth and development. Families can track their child’s development, connect with experts, and learn fun activities to play with your 0-5 year old. Sparkler is free for Connecticut families. Click here to learn more. Please use the code NBSCT when logging in.

PATH CT

PATH CT offers many programs and services to families of children with special healthcare needs. If you are interested in parent to parent support, a sibling network, help with navigating special education, or other general help finding resources that your family may need, click here for more information.

Center for Care Coordination

Connecticut Children’s Center for Care Coordination addresses the medical, social, developmental, behavioral, educational and financial needs of families to achieve healthy development for children. This can include help with food and other items such as clothes and diapers, housing and transportation. Learn more about the Center for Care Coordination here.

Baby’s First Test

Baby’s First Test is a website that provides education about newborn screening. This site provides information and resources about screening at the local, state and national levels. This is a resource dedicated to educating parents, health professionals, and the public about the newborn screening system. This site also provides many ways for people to connect and share their viewpoints and questions about newborn screening.

Expecting Health’s Newborn Screening Family Education Program

The Newborn Screening Family Education Program is dedicated to developing opportunities for all families to learn about newborn screening and to creating educational and training resources that build confidence in families to become leaders in the newborn screening system.

National Organization for Rare Disorders (NORD)

NORD’s Rare Disease Database provides brief introductions for patients and caregivers to specific rare diseases. You can also learn more about Rare Disease Day and find ways to get involved in events and activities.

Newborn Screening Videos

Take a look at two videos that the Network helped to create to help spread the word about newborn screening.