Genetic counseling knows no bounds

By Dana Knutzen, MS, CGC
Kimberly Nugent, MS, GC
Rebecca Littlejohn, MS, CGC

Genetics spans all areas of medicine. It is woven into the very core of who we are and determines how our body grows and develops.  When a baby is born with a birth defect or a child is falling behind in school, sometimes a change in our genetic information is the cause.  If a genetic diagnosis is made, it not only affects that individual but can stretch across the family, suggesting other relatives may also be at risk.

Understanding whether your child or family member’s health concerns are part of a genetic diagnosis can be confusing. Information provided by genetic counselors can help you navigate these unknowns and help you find answers to your questions.

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Rare Disease Day is February 28, 2017

(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.

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