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.

5 steps to getting you and your medically fragile child home from the hospital

Complex Corner: This is the first in a series of blogs specifically written for parents of children who have complex conditions that require a variety of medical specialists.

By Ruchi Kaushik, MD, MPH
Assistant Professor, Pediatrics
Director, ComP-CaN (Comprehensive Peds for Complex Needs)
Baylor College of Medicine

Taking a newborn home from the hospital can be anxiety-provoking for most families, so taking a medically fragile infant or child home after being in the hospital for several weeks is obviously daunting.

Families meet a variety of doctors, nurses, physical/occupational/speech therapists, respiratory staff, case managers, and social workers – it is impossible to remember everyone’s names, much less what they just advised you to do before leaving the room.  That said, I often tell caregivers that hospital staff have done a superb job of saving a child’s life; our next task, as a team, is to prepare a child for school.  In simple terms, going home is one transition to a new normal, until the next transition.

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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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Talking to your child about tragedy

Raising three little girls is no easy task, and I spend countless hours preparing them for issues that may arise in their worlds.  By far, one of the most painful things I have ever had to teach my daughter was what to do in the event of an active shooter in her school in the aftermath of the Sandy Hook Elementary School massacre.

As our country reels from yet another school shooting, many families are having difficulty finding the right words to explain what this means for their children. What you tell your children and how much you tell children can be challenging to navigate, particularly because you are likely not the only source of information for them. Depending on their age, they may be processing information from family, friends and neighbors; the news, including TV, newspapers, and magazines; and the internet, which often displays false information that is perpetuated by social media. However, you must remember that you will always be their favored and most trusted source. So what, and how, should you tell your children?

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Seven facts about the flu

By Danielle Roberts, M.D.
Pediatric Resident, PGY2
Baylor College of Medicine
The Children’s Hospital of San Antonio

7 Facts About the Flu

With the holidays just around the corner, many families are looking forward to fun-filled and quality family time. Whether it involves looking for the best deals, organizing elaborate feasts, or festively decorating homes, planning is key for a smooth and enjoyable time for all!

Along with these exciting times, unfortunately, also ‘tis the season for the flu virus. Being sick with this virus can affect precious family time, and you may have questions about how the virus can affect your loved ones. This blog will explain seven facts about the flu.

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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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3 reasons why only 2 hours of screen time is best for your 1 child

By Dr. Allison Wells
The Children’s Hospital of San Antonio
Baylor College of Medicine – Residency Program

Have you ever found yourself at your child’s check up wondering if your child has too much screen time? Have you ever wondered why your pediatrician recommends only two hours of screen time per day for your child? And what exactly does “screen time” mean anyway?

Screen time is defined as the amount of time someone spends in front of any electronic viewing device – this means TV, smart phone, tablet, computer, laptop, and video games. Most children in our society grow up with these devices. In fact, many are tiny experts at using smart phones before they are even potty trained. But is screen time good for them? A lot of research has been done to look for the answer to this question.

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Three ways to relieve a stuffy nose

By Dr. Benjamin Moresco
The Children’s Hospital of San Antonio
Baylor College of Medicine, Third Year Resident (PGY3)

Please note: the model used below is a specially designed manikin used by medical professionals to practice and demonstrate procedures.

Cold and flu season, fall allergies, and children getting settled back into school (and sharing lots of germs with each other) create the perfect combination for little ones to get stuffy noses. Runny noses are one thing, but even worse is the nasal congestion and sinus pain that can accompany a cold. What can parents and caregivers do at home to relieve a stopped-up nose and painful sinus pressure?

What you may not know is that many children who visit the Emergency Room (ER) during the fall and winter could have been cared for at home. In addition to the handy dandy bulb-syringe, there are some newer options available for families to help clear the nose and mouth of mucus. Be sure to remember two very important things: keep your child well hydrated and always use nasal saline before you suction.

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Today’s tobacco not a safe alternative

By Dr. Ruchi Kaushik
General Pediatrics
The Children’s Hospital of San Antonio

Did you know that nine out of ten smokers start smoking before the age of 18? Consequently, tobacco prevention is a pediatrician’s problem to tackle.  Fortunately, over the past several decades, tobacco use has declined, primarily because of regulations put in place to bar the industry from marketing to children and youth.

Enter vaping – the tobacco industry’s latest attempt to hook your child. Overall, tobacco use among teens has declined since the 1970s; however, a recent study published in Pediatrics revealed that 13.7 percent of 12th grade students in Southern California currently smoke cigarettes or e-cigarettes compared to 9.9 percent in 2004 (before e-cigarettes were available).  E-cigarettes are a type of electronic smoking device available in a variety of colors, sizes, and flavors (eg. vanilla, chocolate) and are advertised to be a “safer” form of tobacco.

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Can children thrive on a vegetarian diet?

By Dr. Ruchi Kaushik
General Pediatrics
The Children’s Hospital of San Antonio

Because of the recent increase in obesity incidence and a desire to improve cardiovascular health, many families have developed an interest in vegetarian diets; however, parents often fear that with a diet restriction, they may not be able to meet the nutritional needs of their children. I currently am raising three, young lacto-ovo-vegetarians and assert that, with knowledge and creativity, parents can ensure the normal nourishment and growth of their child. Indeed, studies have shown that with vegetarian diets children may still attain normal weights and heights.

Definitions
Vegetarians do not eat meat, poultry, or fish. Those who do consume eggs and dairy products are lacto-ovo-vegetarians. Lacto-vegetarians eat dairy but not eggs. And vegans only consume plant foods. Although a well-varied diet can be sufficient for all types of vegetarians, without close monitoring of food selection, vegan children may be at risk for a nutritional deficiency.

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