Based on our population, Wisconsin has an estimated 600,000 individuals living with rare diseases and more than 6,400 new babies are born yearly with rare diseases. 

There are more than 10,000 known rare diseases that affect about 30 million people (or 1 in 10 people) in the U.S. Over 200 new rare diseases continue to be identified each year. Only about 10% have approved treatments.  Yes, that means 90% of rare diseases do not have treatments! This is a public health problem.

Most but not all rare diseases are genetic diseases. Often serious, chronic and progressive, many rare diseases are identified at birth or in childhood.  Two of every three rare disease patients are children. Very few rare diseases have a cure and roughly 30% of children with rare diseases die before age five. 

In addition to the disease itself, those impacted by rare diseases are also more psychologically, socially, economically and culturally vulnerable. Health care costs are estimated to be similar to that of cancer for a person with a rare disease.

Appropriate medical care and treatment can improve the quality of life for those with rare diseases. Science and technology continue to evolve to improve the diagnosis, care and treatment of rare diseases. The knowledge of the natural history of diseases is being improved by the creation of rare disease registries. Early testing for childhood diseases have each shown to save and improve lives.

Three common methods of diagnoses for rare disease include:

• Newborn screening
• Genetic testing
• Biomarker testing

Every baby born in a hospital will have this test done, unless the family chooses to opt out for religious or other reasons. The screening is done within the first 24-48 hours after birth. It consists of three tests; a blood heel stick screening, a hearing screening and a heart screening. The heel stick blood screening involves a prick of the baby’s heel to obtain a small amount of blood which is collected on a card and then sent to the lab. The lab tests for genetic, metabolic, and enzymatic conditions that can be treated when found early. The number of tests completed varies by state.  

Wisconsin Policy 

Here in Wisconsin, the blood screening tests for 48 conditions in addition to the hearing loss and critical congenital heart screenings. You can view the complete list of conditions here.

There are additional tests available that we would like to see on the NBS panel in Wisconsin. Use the links below to see the policy change initiatives in action!

• Senate Bill 962 
• Assembly Bill 1057 

Additional Newborn Screening Resources

• WI DHS Newborn Screening Program 
• American Academy of Pediatrics Newborn Screening Tests 
• Baby’s First Test

Additional Resources and Organization for Genetic Testing in Wisconsin

• American Society of Gene & Cell Therapy Education
• Badgercare and Medicaid Guidelines for Genetic Testing
• Children’s Hospital Undiagnosed and Rare Disease Program
• Prevention Genetics by Exact Science
• UW Genetic Testing Information 
  
• Children’s Hospital Geneticists

• Froedtert & Medical College of Wisconsin
• HSHS St. Vincent Hospital
• Medical College of Wisconsin 
• Versiti Hematology 
• Wisconsin Genetic Counselors Association 

Ethics of Genetic Testing

Genetic testing raises ethical concerns for multiple reasons. One example is that it reveals information about other family members aside from the person being tested. This can cause stress and emotional dilemmas to family members because they could  potentially have the condition as well. Emotional distress can also stem from uncertainty of results, and this is especially true for certain rare diseases. Interpretation of genetic variants can be ambiguous, complicating medical decision-making. It is important to provide complete consent before receiving testing and understand what your results could mean for you. Nevertheless, genetic testing has allowed us to make great strides in diagnosing and understanding rare disease. Decisions surrounding genetic testing are difficult and complicated, but we are here to help and support you on your journey here at the Wisconsin Rare Disease Alliance. 

These substances can provide information about a condition or disease, or indicate whether a process is normal or abnormal. It can help improve diagnosis, predict when a disease will appear, and monitor how a patient responds to treatment. 

Why do we look at these for diagnosis? 

Biomarker testing is beneficial for many reasons: 

• It provides precise information about the disease at a cellular or molecular level that symptoms alone do not reveal
• It helps differentiate between diseases that have overlapping symptoms to ensure the patient receives proper diagnosis and treatment
• It is time effective and helps avoid cycles of misdiagnosis
• This method is non-invasive or minimally invasive which is important for individuals who may undergo many series of invasive tests

Where can I get biomarker testing in Wisconsin?

• Most primary physicians can complete some type of biomarker testing
• All labs do biomarker testing – any doctor can request it 
• Types of biomarker testing 

Examples of rare diseases that use biomarker diagnosis

• Hemophilia – a blood test determines if clotting factors are missing or at low levels and which ones are causing the problem 
• IgA nephropathy (Berger disease) – urine sample at pediatric level could help diagnose this disease because it is characterized by a buildup of antibodies in the kidney 

If someone in your family has been diagnosed with a rare disease, please know that you are not alone. There is a whole rare disease network of families, healthcare providers, nonprofit organizations and others diligently working to support, educate, research treatment for those impacted by rare disease. We are here to connect those impacted by rare disease with a support system to help navigate this difficult journey.  We encourage you to reach out and be a part of our community.