March 21 is World Down Syndrome Day

Blog provided by the Genetics Section at The Children’s Hospital of San Antonio:
Dr. Elizabeth Roeder
Dr. Scott McLean 
Rebecca Littlejohn, MS, CGC
Kimberly Nugent, MS, CGC

Did you know that one in 700 babies has Down syndrome, also called trisomy 21? This means about 6,000 babies with Down syndrome are born in the United States every year. Down syndrome is caused by having three copies of the 21st chromosome rather than two copies. That is why the date March 21 (3-21) was selected for World Down Syndrome Day.

World Down Syndrome Day (WDSD) was first observed in 2006 and has been officially recognized by the United Nations since 2012. When we celebrate WDSD, we raise global awareness about what Down syndrome is, we encourage our friends and relatives to recognize WSDS, and we support those who advocate for the rights, inclusion and well-being of people with Down syndrome. Anyone can be an advocate for a friend or family member with Down syndrome, and raising awareness and sharing correct information is one way to do this. Celebrating WDSD is a great way to recognize the uniqueness and value of every person with Down syndrome in communities all over the world.

The Children’s Hospital of San Antonio has many doctors, nurses, and associates who care for children with Down syndrome and their families. Please join The Children’s Hospital of San Antonio in recognizing this special day!

Check out these local, national, and global websites about Down syndrome:
· http://www.dsastx.org/
· https://www.ndss.org/
· https://worlddownsyndromeday.org/
· https://lejeunefoundation.org/

If you need a physician specializing in Down syndrome or other genetic conditions, please visit our website at www.chofsa.org/findadoc.

Rare Disease Day: One mother’s journey from despair to acceptance

By Abby Loudermilk
Grace’s Mom

Like many first time mothers, I read articles and books on “What to Expect.” Although Grace was smiling, laughing, nursing, and healthy, I began to grow concerned that she wasn’t hitting her developmental milestones. Wasn’t she supposed to be sitting up by now? Shouldn’t she be trying to crawl? Why were my friends’ babies passing her up developmentally? Around six months, I remember looking up when babies were supposed to be sitting independently. The article said that most babies sit on their own between four to seven months. Ok, maybe she’s a late bloomer. What I didn’t grasp as a first-time mom, with no frame of reference was that not only was she not sitting she wasn’t even close to sitting.

I called Grace’s pediatrician about a month later. The nurse asked me “Well can she sit at all? Like in a highchair?” I responded, “Yeah.” She said it’s probably nothing to worry about — she’ll probably catch up.

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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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