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.

Help your teen cope with stress

Elena Mikalsen, Ph.D.
Pediatric Psychologist
Section Chief of Psychology Department

Is your teen spending too much time on social media and not enough time sleeping? It’s one reason your teen may feel stressed and anxious. According to recent American Psychological Association’s (APA) Stress in America Survey, our younger generation is increasingly more stressed. More than one in four teens and young adults say they do not feel they are doing enough to manage their stress, compared with about one in ten older adults.

The APA’s survey also indicated that teens are more likely to report using passive rather than active coping strategies, which are not always as helpful. Teens rely mainly on taking a nap, listening to music, going online, eating and playing video games to cope with stress and depression. Below are some more active ways of coping which parents can easily discuss and teach to their children.

Physical activity
One in five teens and young adults reports exercising less than once a week or not at all. Exercise is one of the most effective stress and anxiety relievers. Any of these activities are helpful: yoga, hiking, biking, walking, dancing, running, rock climbing, and skateboarding. The best activity is one which involves a social component. It doesn’t need to be a team sport.

Taking a closer look at type 1 and type 2 diabetes

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

Diabetes mellitus is a chronic disease caused by a lack of insulin. Insulin is a hormone produced by the pancreas, is essential to life, and helps in the metabolism of glucose, a simple sugar derived from the carbohydrates (“carbs”) in our diet. It lowers blood glucose (glucose = sugar) levels by helping glucose enter our muscle cells so we can then use it for energy. One analogy describes insulin as the “key” to opening the door to muscle cells for glucose to come in. An absence or deficiency of insulin leads to high blood sugar levels; conversely, an excess of insulin results in hypoglycemia, or low blood sugar levels. Importantly, in diabetes, even though blood sugar levels are high, the glucose cannot enter muscle cells and cannot be used for energy because the “key,” insulin, is missing. This is dangerous because glucose is the only energy source for red blood cells and the brain.

Diabetes mellitus is of two types, type 1 and type 2. In type 1 diabetes, the cells of the pancreas are either absent or destroyed. These individuals have a lifetime dependence on injectable insulin. Type 2 diabetes is more complicated. The body’s cells have become resistant to insulin.  Essentially, the cells have changed their “locks.” Traditionally, type 2 diabetes has been a disease of adults; however, with increased rates of childhood obesity, as many as one-third of all new cases of diabetes in adolescents is of type 2.

Oral health: the gateway to total health

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

Oral health is the most common chronic disease of childhood. Additionally, gum disease has been linked to future heart and lung disease, diabetes, premature and low-birth weight babies, and a number of other conditions.  The 2000 Surgeon General’s report, Oral Health in America, states that, if left untreated, poor oral health is a “silent X-factor promoting the onset of life-threatening diseases which are responsible for the deaths of millions of Americans each year.”

As a result, teaching your child about good oral hygiene from the start can prevent tooth decay and gum disease and their complications.