(Pictured above) The Genetics Team at The Children’s Hospital of San Antonio
Blog by Rebecca Okashah Littlejohn, MS, CGC, and Kimberly Nugent, MS, CGC
Certified Genetic Counselors
Department of Genetics
Did you know more than half of Americans affected by rare diseases are children?¹ Or that patients with rare diseases are frequently misdiagnosed or undiagnosed?¹ Or that you probably know or have seen an individual with a diagnosed or undiagnosed rare disease?
So what is a rare disease?
A rare disease is defined as any illness, condition, syndrome, disease, or disorder affecting fewer than 200,000 people in the U.S.¹ More than half of Americans affected by rare diseases are children.¹ These diseases can affect a single organ or multiple organ systems. Most of these rare diseases have an underlying genetic cause. Understanding the underlying genetic cause for a disease can provide an individual with information about how the disease may affect the body, necessary medical management changes or inform other family members if they could have the same disease or a child with the same disease.
February 28 is a day to acknowledge all rare diseases. It is a day to advocate for those affected by these diseases whether it is your child, friend, colleague, coworker, family member, or a person you may have met at your doctor’s office. Depending on your closeness to the individual affected by the rare disease, advocacy will look different for everyone. Listening to an individual’s concerns and the challenges they face is the first step in advocating for those with a rare disease. Here are just a few other ways to advocate for individuals you know with rare diseases and the organizations that work to support them.
Health Care Team
Finding a team of health care providers to treat and manage an individual affected by a rare disease is crucial, but often difficult. Health care providers should include a group of individuals that promote communication and support evidence-based treatment. These providers may include genetic counselors and geneticists who can play a critical role in understanding the underlying cause for a disease and include many other specialists depending on that individual’s medical issues.
Join a disease specific support group. These support groups can be local, state, or national and offer information on how the disease affects the individual’s body and their daily challenges. Understanding these diseases and challenges can create a network of people who have a comprehensive knowledge of the disease. This network can correct misperceptions and shed light on the needs of those affected by the disease.
Research opportunities and clinical trials for individuals affected by rare diseases are often limited. The best way to advance the knowledge surrounding a rare disease is to promote research for it. While these diseases are rare, the understanding of one disease can play an important role in the understanding of another disease. Choosing to participate in a research study, with proper informed consent, is critical to adding to the knowledge and potential development of treatments of these diseases.
Contact your local, state, or national representative! As an advocate for a rare disease, work with support groups, health care organizations, or even as an individual advocate to educate your legislative representative. Education is critical to promote awareness and knowledge of diseases, but it also aids in the understanding of the challenges that individuals with rare diseases face. In some cases, these challenges can only be conquered when society works together to advocate for solutions at the governmental level.
In summary, there are many ways to promote knowledge, understanding, and advocacy of rare diseases. Even you, (yes, you!) can be an advocate! Please join The Children’s Hospital of San Antonio in our advocacy of Rare Disease Day. Don’t forget to spread awareness of Rare Disease Day via social media.
Rebecca Okashah Littlejohn, MS, CGC, and Kimberly Nugent, MS, CGC, are certified genetic counselors with specialized training. Read more about genetic services provided at The Children’s Hospital of San Antonio by visiting http://www.chofsa.org/genetics.