Medical Genetics

Birth to Three is a free service and can help to assess how your baby is developing, identify your child’s strengths, uncover new milestones to celebrate, and support you and your child, as needed. Your pediatrician or our genetic counselor can also help to get the referral started for your child.

The Cystic Fibrosis Foundation is the world’s leader in the search for a cure for cystic fibrosis.

The Muscular Dystrophy Association (MDA) is dedicated to finding treatments and cures for muscular dystrophy, ALS and related diseases by funding worldwide research. MDA also provides comprehensive health care and support services, advocacy and education.

The National Gaucher Foundation is dedicated to providing leadership, outreach and innovative thinking to meet the ever-increasing needs of individuals and families affected by Gaucher disease.

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.

PATH CT offers many programs and services to families of children with special healthcare needs, including parent-to-parent support, a sibling network, help with navigating special education, or other general help finding resources that your family may need.

The Network 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.