Rare Disease Day: Driving Awareness of Pediatric Diseases

By February 27, 2020 Genetic Counseling
Two boys with a rare disease hugging

Rare Disease Day is a day of raising awareness for rare disease that takes place on the last day of February each year. With Leap Year upon us in 2020, the day is observed on the rarest of dates: Feb. 29.

Odds are, your life is impacted in some way by rare disease. Whether it is someone you know, a family member or your own journey, rare disease makes an impact on our communities. Rare disease is defined as a condition that affects less than 1 in 200,000 people. Remarkably, there are 300 million people living with rare diseases worldwide, and there are more than 6,000 rare diseases. Around 72 percent of these diseases are genetic, and 70 percent of those affect children. When children are impacted by disease, the entire family is in need of support. Where do these families turn to for answers? For many, the first step into the world of rare disease is through a genetics provider, as genetic testing and evaluation often hold the key to an accurate diagnosis.

Understanding Rare Diseases in Children

Genetic diagnosis is often a vital component to accurate medical management for a child with a rare disease. Without a diagnosis, families are left on a diagnostic odyssey searching for an explanation and guide for how best to care for their child. Once a diagnosis is made, medical management or treatment can be personalized to the child and the specific rare disease in many cases. With knowledge of the genetics of rare disease increasing each day, the genetics community has worked to increase genetic testing availability. But unfortunately, wait times to see a genetics specialist continue to increase. Additionally, insurance coverage for genetic testing is often minimal, and the burden of payment can fall on families. Access to genetics providers to facilitate testing and provide expert result interpretation is vitally important to improving outcomes in pediatric rare disease.

Technology has helped to advance medical innovation but has also been crucial in connecting families across the globe who can unite under the banner of rare disease. Relating to each other through the experience of living with or caring for someone with a rare disease can be life-changing. Some rare diseases in children are so rare that a patient organization or website doesn’t exist. For these families, organizations such as the National Organization for Rare Disorders (NORD), Outshine labels and Global Genes practice the power of uniting under the banner of rare disease, rather than a specific diagnosis. Organizations like these are connecting families through not only their genes, but also through the love of their child, grief from a loss, struggles of the everyday and worry of what the future might hold.

Types of Rare Disease Affecting Children

There are thousands of rare diseases in children, with more being discovered every year. Below are four types of pediatric rare diseases.

Chromosomal Disorders

Our chromosomes package our DNA in our cells. There are many rare diseases in children that are caused by differences in the amount of genetic material present in the chromosomes. Some chromosomal abnormalities are caused by extra genetic material, while others are caused by missing genetic material. Chromosomal deletion and duplications are common causes of birth defects, learning differences and autism. These differences can be detected via a test called a chromosomal microarray. Some examples of chromosomal pediatric rare diseases are Down syndrome, 22q11.2 deletion syndrome, Williams syndrome, Turner syndrome and Klinefelter syndrome.

Lysosomal Storage Disorders

Lysosomal storage disorders are a subset of rare diseases in children. They represent more than 40 distinct conditions and are caused by genetic changes that cause the body to be unable to process certain molecules through the lysosomes, a component of every cell. Some lysosomal storage disorders are screened for through a newborn screen. Specifically, Pompe disease and Mucopolysaccharidosis Type 1 are now on the Recommended Uniform Screening Panel as designated by the U.S. Department of Health and Human services. These conditions have gained more attention as some treatments have been developed for these previously untreatable pediatric rare diseases. With treatments available, early genetic diagnosis is more important than ever.

Spinal Muscular Atrophy (SMA)

Spinal muscular atrophy (SMA) is a progressive pediatric rare disease that affects all aspects of the nervous system and muscle movement. There are various types of SMA with variable age of onset, symptoms and rates at which the disease progresses. Some states are also including SMA on their newborn screening panels, as treatment is available for some forms of the condition. Symptoms of SMA can overlap with other forms of muscular dystrophy, so prompt evaluation by a specialist familiar with these conditions is important.

Usher Syndrome

Usher syndrome is a rare genetic disease that is the most common genetic cause of combined deafness and blindness. Worldwide, more than 400,000 people are affected by this condition. The onset of hearing loss, vision loss and balance problems in Usher syndrome vary among the genetic types of the condition as well as from person to person. The first symptom detected is often hearing loss, and over time vision loss caused by retinitis pigmentosa is detected. Genetic testing for genetic etiologies of hearing loss can yield important information regarding an individual’s risk of having other medical issues, such as in Usher syndrome.

Getting Involved: Rare Disease Day

Individuals and families of children with rare diseases are working tirelessly as advocates. We want to increase the knowledge of rare diseases as a whole among the general public while also encouraging researchers and decision-makers to address the impact and needs of those living with rare diseases. So what can we do on this day? We can be open to hearing the story of a friend or family member who has experienced a rare disease; we can share our own stories of rare disease, so that someone else may know that there is someone who can relate to their journey; and we can talk about our family health history so that we can know whether there is an increased risk of rare disease in your family.

Due to the rarity of each individual rare disease, there is limited expertise and funding for research into these conditions. Rare Disease Day allows us a distinct time to reach out to decision-makers in our communities. We can advocate for more time and attention to go toward addressing the needs of those living with rare diseases so that our action can spark further genetic research and treatments. We can also advocate for more equitable social inclusion for people living with rare disease and disabilities. Learn more about how you can get involved through organizations who are working towards these goals, including RareAction Network (RAN), Special Books by Special Kids, Rare Diseases International and March of Dimes.

Genome Medical has partnered with health systems, labs, employers and other organizations to break down some of the barriers for access to genetic evaluation for families with children affected by rare disease. If you think that you or your child may have a concern for a rare disease, you can schedule an appointment with a Genome Medical genetics provider through our nationwide network of genetic experts.