A change in a single gene can cause certain health conditions. Parents pass down these conditions in different ways, depending on how the gene is inherited.

Myotonic Dystrophy
Myotonic dystrophy is autosomal dominant. It causes muscle weakness and myotonia (when muscles fail to relax after use), which worsens over time. But the severity varies from mild to severe.

Other systems of the body can also be impacted. The severity, age of symptoms start and specific symptoms can vary, even within the same family.

Cystic Fibrosis
Cystic fibrosis is an autosomal recessive condition. It affects the lungs and digestive system.

Sickle Cell Anemia
Sickle cell anemia is an autosomal recessive condition. It causes red blood cells to change shape, block blood flow and break down quickly. This leads to too few red blood cells (anemia), pain and a higher risk of infections.

Tay-Sachs Disease
Tay-Sachs disease is an autosomal recessive condition that leads to death, usually by age 5. It occurs because the body lacks an enzyme called hex A. This causes fat to build up in nerve cells, mainly in the brain.

This condition begins before birth but does not usually show until months after. Many with Tay-Sachs come from Ashkenazi Jewish families, where one in 30 people carry the gene.

Red-Green Color Blindness
Red-green color blindness is an X-linked recessive condition. It makes it hard for people to tell the difference between red and green shades. Their overall vision is normal.

This condition doesn’t cause serious problems. It can impact job choices in areas such as driving or working in the military, where they need to see colors.

Hemophilia A
Hemophilia A is an X-linked recessive condition where the blood doesn’t clot properly because it’s missing a certain clotting protein. This can cause people to bleed a lot even from minor cuts, bruise easily or bleed inside their joints and muscles.

Incontinentia Pigmenti
Incontinentia pigmenti (IP) is a rare X-linked dominant condition that main impacts the skin. It causes a blistering rash in newborns. These turn into wart-like lesions, then develop into brown swirls, then light swirls. They create a marble-like look on the skin.

IP can also impact the eyes, central nervous system, teeth, nails and hair. The severity varies from person to person.

We are a leading center for finding, treating and researching genetic conditions in both kids and adults.

Among the best: Children’s Wisconsin has one of the best programs in the United States that uses advanced genetic testing. This helps us uncover the causes of diseases and health problems that are hard to diagnose.

Award-winning: The National Organization of Rare Diseases named us a Rare Disease Center of Excellence. This credits our program for high care standards in research, diagnosis and treatment of rare conditions in kids.

Academic medicine: Our Genetics and Genomics Program experts work with the Medical College of Wisconsin (MCW). MCW is a top medical school and research center. This partnership lets us advance knowledge, drive research and create new treatments.

National leader: We’re the biggest genetics program in Wisconsin. We’re also national leaders in whole-genome sequencing. Our doctors use this to find genetic changes that cause diseases, including rare conditions that are hard to diagnose.

For questions or to schedule a visit, please call (877) 607-5280.

If you’re from out of town, please call (414) 266-6300. Our Access Center will help you set up a visit to Children's Wisconsin. They can also help with lodging and provide other forms of support.

Before

Before your consult, we will ask you to:

• Bring records from other doctors, including test results, scans and diagnoses
• Complete forms about your child's health, symptoms, and family history
• Be ready to discuss your child's symptoms, including when they started

During

When we meet with you and your child:

• A doctor and genetics expert may talk with you to learn about your child’s health.
• Your visit may include several visits, exams and tests.
• A genetic counselor will work with your family. They will guide you through the process and explain the plan for care and testing.

If your family is not able to travel, we may meet with you by phone, email or video. We’ll look over your child’s health records and work with their doctor to plan next steps or get a sample for testing.

After

We’ll share test results and any updates with you. We’ll guide you through the next steps, discuss treatment options we may offer and provide helpful resources.