Written by Dawn Laney, MS, CDC, CCRC
The journey to a Fabry disease diagnosis is rarely a clear, straight path. Fabry can mimic more common health issues and lead patients and healthcare providers on a winding odyssey of medical testing and diagnostic dead-ends. However, once Fabry disease enters the scene as a possible diagnosis, free genetic testing and clear patient care guidelines can speed up the identification and treatment for patients. Finding the right support and guidance as early as possible is critical to properly address the short- and long-term health challenges associated with Fabry. In recent years, newborn screening has played an important role in facilitating early diagnosis and connecting patients and families with the resources they need to help ensure positive long-term outcomes.
Newborn screening is a public health program that tests babies for a variety of conditions that can lead to serious health complications. The program strives to detect health issues ranging from hearing impairment and heart defects to rare genetic conditions. The specific rare genetic disorders tested for via newborn screening are determined on a state-by-state basis with guidance from the recommended uniform screening panel (RUSP), a list of conditions that the United States Department of Health and Human Services (HHS) suggests all states include in their newborn screening programs. States are not required to test for all recommended conditions and the conditions they choose are updated based on specific state rules.
Although Fabry disease is not on the RUSP, six states currently include Fabry disease on their newborn screening panel for all babies. In these states, patient advocates and healthcare providers lobbied for the inclusion of Fabry disease given the many benefits of diagnosing the disease early. Although disease-specific treatment as a baby is not required for the best outcomes, newborn screening is the best opportunity to test every baby equally for this life-impacting, childhood-onset disease. After the newborn period, there are limited opportunities for screening that might lead to a Fabry disease diagnosis. Screening the general population for Fabry disease during the newborn period helps patients avoid the diagnostic odyssey, prevents delayed diagnoses for the identified infants and their at-risk family members, and provides time for patients and families to build a strong care team. Once a diagnosis is reached, it is important to consider genetic counseling to identify and test other family members who also might have inherited Fabry disease.
If a specific state does not include Fabry in its newborn screening panel and a healthcare provider finds evidence that a patient may be affected by Fabry disease, free testing is available through sponsored testing programs by the American Association of Kidney Patients, the LANTERN project, broad lysosomal storage disease panels such as the DETECTLSDs program, and other options.
Dedicated advocates continue to highlight the importance of newborn screening and the benefits of early diagnosis of Fabry disease. One key advocacy leader taking on this challenge is Tia Rosenbalm Jones. Channeling her passion for this topic, Tia created “Testing for Tots” as a research grant fund through the Fabry Support & Information Group (FSIG) to gather more data to support newborn screening in Fabry disease. The efforts of dedicated leaders like Tia play a key role in highlighting the value of newborn screening and advancing the mission to transform the standard of care for people affected by Fabry disease. The collective work of all members of the Fabry disease community – from patients and advocacy groups to healthcare providers and researchers – continues to build stronger awareness of the many ways newborn screening can improve outcomes and quality of life.
About Fabry Disease
Fabry disease is a progressive, life-threatening genetic condition that results from the buildup of a particular type of molecule, called globotriaosylceramide, in the body’s cells. Characteristic features of Fabry disease include burning pain in the hands and feet, clusters of small, dark red spots on the skin called angiokeratomas; a decreased ability to sweat; a characteristic whorl in the front part of the eye (cornea); protein in the urine, problems with the gastrointestinal system; ringing in the ears; and hearing loss. Without treatment, Fabry disease progresses into life-threatening complications such as kidney damage, heart issues, and stroke. The condition affects both females and males with symptoms ranging from severe, childhood-onset to life-impacting adult-onset forms. Individuals with Fabry disease are also at a higher risk for psychological challenges, particularly depression and anxiety. In the United States there are two strong patient support and advocacy groups, the National Fabry Disease Foundation and the Fabry Support and Information Group, that provide information, resources, and support for patients and families impacted by Fabry disease.
About The Author
Dawn is a leader in the fields of genetics and education as well as a certified genetic counselor with over 20 years of experience. In 2016, she was formally recognized as a leader in the field of rare genetic diseases by the National Organization for Rare Disorders. She is the author of several children’s books focused on Fabry disease and designed to help children learn about the condition through storytelling. Dawn’s academic roles include Assistant Professor of Human Genetics, Director of the Genetic Clinical Trials Center, and Program Leader of the Lysosomal Storage Disease Center Program at Emory University School of Medicine. She is also Chief Genetic Officer and co-founder of ThinkGenetic, a company focused on locating individuals with diagnosed and undiagnosed genetic diseases using artificial intelligence solutions.