Abigail was born with a rare medical condition. As a teenager, she now advocates for other children born with a rare disease.
Feburary 28 is Rare Disease Day
Abigail is rare, and she knows it! When she was born in 2006, she had to be transferred to the Neonatal Intensive Care Unit at The Children’s Hospital of San Antonio to receive medical treatment for a condition known as gastroschisis. Gastroschisis is when a baby is born with their intestines on the outside of their body and surgery is typically required to put them back in. In addition to this rare birth defect, Abigail was also found to have a condition known as phenylketonuria (PKU). PKU is a rare disorder that prevents the body from properly breaking down substances called phenylalanine — also known as Phe.
Phe is an amino acid found in foods such as breastmilk, eggs, dairy, meat and soy. The body uses Phe to make protein which is an essential part of a healthy diet. High levels of Phe can permanently damage the nervous system and brain, causing a variety of health problems including seizures, psychiatric problems, and severe intellectual disability.
Abigail was referred to a genetics team to help her and her mom navigate the world of specialty formulas and medications. Through trial and error, they were able to determine how much protein Abigail’s body could handle. After a few years of treatment, they were the first family the clinic staff thought of when a new medication — sapropterin (Kuvan) — became available to treat PKU. The medication worked; Abigail’s Phe levels were low, indicating she has hyperphenylalaninemia, a mild form of PKU. Abigail explains, “Since my blood work is in a good range and I respond to my medication, I now have an unrestricted diet and do not need to eat or drink medical foods or formula for nutrition. My diet allows me to have all the nutrition I need.” She still battles some symptoms related to PKU such as headaches, side effects from medication, and a learning disability. But that has not stopped Abigail from becoming a fierce advocate for others with rare diseases, especially PKU.
While competing for the title of Miss Reina Latina San Antonio Teen 2021, Abigail took the pageant as an opportunity to spread awareness about PKU and other rare diseases. After winning the title, she made rare diseases her platform. “When I have events, I tell everyone about my story. I say my title, and I let people know where they can go to learn more about the rare disease community and how they can support it,” she said.
Abigail has spearheaded an awareness campaign called #LightUpForRare. She has worked hard over the last several weeks to ensure more people in our community know about Rare Disease Day and PKU on February 28. She reached out to San Antonio landmarks and businesses asking if they would illuminate their buildings in pink, green, blue and purple to support families affected by rare diseases. Thanks to Abigail’s efforts, The Children’s Hospital of San Antonio and other downtown buildings will be illuminated in these colors tonight. If you happen to see a building lit up with these colors, take a photo or video and use the tag #LightUpFor Rare on social media.
Halie Reyes discovered she was pregnant in March of 2019. While she and her husband were excited, they couldn’t help but be a little anxious, too. A couple of months earlier, Halie and her husband experienced the pain of miscarriage. This, coupled with the fact that Halie had type 2 diabetes, made them particularly nervous.
Halie immediately set up an appointment to meet with diabetes educators at the Center for Maternal and Fetal Care at The Children’s Hospital of San Antonio. Prior to getting pregnant, Halie had Type 2 diabetes and knew this would put her at high risk for developing gestational diabetes during her pregnancy. The educators would help Halie regularly track her numbers and made sure she stayed on top of her monitoring each time she had a doctor’s appointment.
“I felt so blessed to be able to work alongside the doctors and educators at the Center for Maternal and Fetal Care. They did a really good job of helping me manage everything and stay on top of my logs. The team went the extra mile for me to ensure a safe and healthy pregnancy,” said Halie. “One of the first things they did was enroll my husband and me in a series of cooking classes so that we could develop healthier eating habits.”
The program, called Culinary Health Education for Families* (CHEF), was provided in the Teaching Kitchen at The Children’s Hospital of San Antonio. The program was aimed at teaching men, women and children how to grocery shop, prepare nutritious meals and establish healthier eating habits. Halie found the classes extremely helpful. A chef and dietitian showed Halie and her husband how to prepare various recipes and give them tips on using healthy substitutions.
“The food was amazing and we learned so much in each class. One of our favorites was the healthy version of a fish taco. It has now become a staple in our household,” said Halie.
In addition to helping her establish a healthier eating path, her care team also helped her properly manage her blood sugar and keep track of her glucose numbers. Initially, she was put on insulin and had to do finger pricks every day, but eventually, she was able to use a sensor, called the FreeStyle Libre to track her blood sugar. Halie found the device helpful and easy to use.
“Instead of pricking my fingers eight times a day, I was able to use the sensor that went on the back of my arm,” explains Halie. “It can sync up with either your phone or a tracking device and will give you your glucose levels. This device was a game changer for me.”
Doctors saw Halie every two weeks throughout her pregnancy to monitor the diabetes and as they got closer to her due date, her appointments were weekly. They were most concerned with Halie developing preeclampsia, a complication during pregnancy when blood pressure is too high, impacting the vital organs, most commonly the liver and kidneys. In addition to preeclampsia, they were also worried Halie would gain too much weight and that the baby would get too big during the pregnancy.
Doctors told Halie that she would not carry the baby to full-term due to the gestational diabetes because it could pose a greater risk to her and the baby. The plan was to induce her at 39 weeks. On Nov. 25, 2019, Halie had an excruciating headache and couldn’t sleep. At midnight, she went in for the induction, and Dr. Marisol Garcia-Hodge performed an emergency C-section because Halie’s blood pressure was too high and was not coming down.
After controlling Halie’s blood pressure and managing her pain, they safely delivered her baby, a daughter she named Sarah.
“Due to the gestational diabetes during pregnancy, the doctors had to monitor Sarah’s blood sugar levels,” said Halie. “She had to spend a few days in the neonatal intensive care unit to make sure her body could learn to regulate itself.”
Today, Sarah is a healthy 22-month-old toddler.
Two years later, Halie said she would do it all over again, even though the experience was scary at times.
For other mothers who have diabetes or develop gestational diabetes during pregnancy, Halie tells them it will get better and that they need to do what is necessary to care for themselves and their baby. She said a big part of this is finding the right care team to help you manage every aspect of your diabetes, including how to develop healthier eating habits.
“I will wholeheartedly recommend the care team at Children’s to anyone who will listen,” said Halie. “If any mom is looking for an obstetrician, I always tell them I know the best team!”
One you are diagnosed with gestational diabetes, how can you maintain a healthy pregnancy and reduce your risk of complications?
Q&A with Dr. Shad Deering, maternal fetal medicine specialist
Every year, 2 to 10 percent of pregnancies in the United States are affected by gestational diabetes. What exactly is it, and how can it be managed effectively? We recently sat down with Dr. Shad Deering to talk about gestational diabetes and what women need to know.
Q: Can you explain what gestational diabetes is and how and when it’s diagnosed?
A:Gestational diabetes is a type of diabetes that occurs during pregnancy.It’s usually diagnosed when a woman is between 24 to 28 weeks pregnant with a one-hour glucose tolerance test.
Q: What are some common risk factors associated with gestational diabetes?
A: There are certain risk factors the predispose a woman to develop gestational diabetes. First, if you had it before with another pregnancy and specifically if your baby weighed more than nine pounds, the likelihood of you developing gestational diabetes is greater. Also, if you have polycystic ovarian syndrome (PCOS), you are also at risk. Other risk factors include being Hispanic or Black, having a family member with diabetes, having hypertension, or having a body mass index (BMI) of over 25.
Q: If you have the above risk factors, what are some things you can do to manage gestational diabetes better?
A: You can take some steps to lower your risk profile, including being mindful of what you eat and being active. Getting 30 minutes of exercise – at least three to five times a week – will help. Making changes to your diet and cutting out simple carbohydrates like white bread, for example, also will help. You should aim for 40% complex carbs (multigrain bread and cereals, beans, and vegetables), 20% protein, and 40% fats. In short, a balanced diet and exercise routine coming into pregnancy will significantly decrease your risk.
Q: If a pregnant woman is diagnosed with gestational diabetes, what should she eat? What should she not eat? How should she manage her pregnancy cravings?
A: When women receive a diagnosis of gestational diabetes, they immediately think, “what can I eat” instead of “what should I stop eating,” which is the more important question. Reducing soda intake as well as processed baked goods like crackers and chips can be effective in lowering blood sugar levels. Making dietary changes can be difficult, especially when a woman is experiencing cravings. However, just like lifestyle changes are a big deal in managing diabetes outside of pregnancy, they also play a role in managing gestational diabetes as well.
Q: When a woman is first diagnosed with gestational diabetes, what happens next? What is done to help them so they have a healthy outcome?
A: When it’s determined that a woman has gestational diabetes, they are often only given a handout providing some limited information on what they should or should not eat. But, if we are asking women to make significant changes in their eating habits for the health of their pregnancy, we think they deserve more. When one of our patients receives this type of diagnosis, we take it a couple of steps further and immediately get them set up with one of our diabetic educators. The diabetic educator sits down with the patient, explains how to eat properly and what smart choices look like, and thoroughly answers a patient’s questions.
Q: Why is it important that a woman diagnosed with gestational diabetes take it seriously and follow the prescribed plan as set by either her physician or diabetic educator?
A: A diagnosis of gestational diabetes can cause multiple issues during pregnancy. One of them is having a large baby, which increases the likelihood of needing a C-section. Women with gestational diabetes are also prone to developing preeclampsia, a dangerous pregnancy complication which manifests with high blood pressure and can progress to eclampsia, or seizures. The risk of stillbirth also goes up substantially, especially if you’re not controlling your sugars. But, there is some good news. If you can control your blood sugars and get them within a specific range, then the risks of all of these things are much lower. It’s critical to keep in mind that what you’re dealing with is short-term and, in most cases, resolves after pregnancy.
Q: Besides diet and exercise, what are some other ways women can manage their gestational diabetes?
A:When it comes down to it, diet and exercise are key to managing gestational diabetes. Often, blood sugar levels will improve dramatically, and we won’t have to take any additional measures, like medication. However, if your blood sugars remain high, we’ll have to take further steps regardless of diet and exercise changes.
What is the typical medication for a pregnant woman with gestational diabetes? Is it different from what somebody would take if they have Type 2 diabetes and were pregnant?
A: The medication of choice for women with gestational diabetes is insulin. The recommendations have changed over the years. At first, it was insulin, and then we thought oral medications might be better, but we have come full circle and have settled on insulin as the optimal treatment, which is now recommended by The American College of Obstetricians and Gynecologists (ACOG). If, however, a woman is on Metformin already at the beginning of pregnancy, they might be asked to continue taking it. However, Metformin is used to treat pre-diabetes and not gestational diabetes, so it’s slightly different.
Q: How often does a woman with gestational diabetes need an insulin shot, and when?
A:It all depends on what time of day women are experiencing high blood sugars. Often women struggle first thing in the morning. In this case, they will take one dose of long-acting insulin before bed and hopefully, when they wake up, their levels will be in an acceptable range. On the other hand, if a woman experiences high blood sugar at dinner, one dose of short-acting insulin may be adequate. It is not only dependent on when a woman eats but what she eats as well. And all of this can change throughout pregnancy. You might start off not needing any insulin because the adjustments in your diet and exercise plan are working; however, you might need to start on a low dose the next trimester and even increase it later in pregnancy.
Q: Does a patient with gestational diabetes need to see her doctors more frequently?
A: If your diet is well controlled and you aren’t on medication, you will most likely be seeing your physician at almost the same intervals you would otherwise. Regardless, if you are on medication or not, you will need to track your blood sugar numbers and send them to your physician. This is especially important if you’re on medication because we’ll want to check those numbers weekly. After about 32 weeks, patients should plan on coming into the office so we can do fetal monitoring of the baby, which usually consists of an ultrasound where we are looking at fluid and movement and the size of the baby, or it can mean putting the patient on a monitor to watch the baby’s heart rate.
Q: So, throughout a woman’s pregnancy, can her gestational diabetes get worse? Why?
A:Yes, because the placenta makes hormones that predispose pregnant women to become diabetic. The human placental or lactogen HPL reduces the effectiveness of the insulin in your body when you are pregnant. As your pregnancy progresses, it’s not uncommon for women to require more insulin.
Q: What happens when a woman with gestational diabetes delivers? Does diabetes go away?
A: When you deliver, many things that would cause diabetes do go away. In other words, if you’re on insulin before having your baby, in many cases you won’t need it after you deliver. Your body will go back to a non-pregnant state. When this happens, you may not have gestational diabetes anymore, but you can still have diabetes. So, we highly recommend a two-hour 75-gram glucose test 4-12 weeks after you deliver to determine if you still have diabetes. If you have gestational diabetes, you have a 50 to 70 percent lifetime risk of developing Type 2 diabetes, which is why it’s so crucial for women to get checked and receive treatment if they need it.
Q: Is there a timeframe when a woman could develop Type 2 diabetes after having gestational diabetes? Is the risk higher right after she gives birth or later in life?
A:It depends a lot on the person because gestational diabetes has a lot to do with genetics and lifestyle. It’s a little hard to define an exact timeframe. The bottom line is if you have gestational diabetes, you should be checked for Type 2 diabetes regularly.
Q: Let’s say a woman leads a healthy lifestyle, exercises all the time, eats right, etc., and still develops gestational diabetes. What could be the reason?
A: It’s always a shock when women who don’t fit the profile are diagnosed with gestational diabetes. When someone comes in and their BMI is high, you’re going to expect some insulin resistance, but if they are the perfect picture of health, it’s a difficult pill to swallow. These women likely just have a genetic predisposition to developing gestational diabetes.
Q: Do you have any advice for women planning to get pregnant and how to avoid a diagnosis of gestational diabetes?
A: If you’re planning to get pregnant, there are some things you can start doing right away, like taking prenatal vitamins, folic acid, looking at your diet, and getting into an exercise routine. By the time you have that first appointment with your obstetrician, it’s too late. Your baby has already started forming, and you’re well into your pregnancy journey. So, making lifestyle adjustments before getting pregnant is my No. 1 piece of advice.
If you have received a diagnosis of gestational diabetes and would like to make an appointment with a maternal fetal medicine specialist at The Children’s Hospital of San Antonio, please contact us at one of our three Centers for Maternal and Fetal Care:
By Olivia Lehane, M.D., Baylor College of Medicine Resident,
What is Every Kid Healthy Week? Every Kid Healthy Week, April 22 – 26, is an event held every year at the end of April to encourage health and wellness in schools. It celebrates all of the great efforts your child’s school makes to improve the lives of their students through healthier lifestyles. Since Every Kid Healthy Week started in 2013, more than 7,000 schools across the country have participated in the event. The goal of these events is to reinforce a healthy lifestyle, such as proper eating habits and the importance of physical activity, through fun and interactive events.
Why is a healthy lifestyle important for my child? About one out of every three children in
America is overweight or obese. In order
to change this, it is important to teach our children how to live healthy
lives. Additionally, healthier lifestyles will lead to better performance in
school. What better way to promote healthy habits than with a week of fun
activities at school that you and your child can both participate in?
How can I encourage a healthy lifestyle?
Include a rainbow in your meal with plenty of
fruits and vegetables (the more color the better!)
Limit sugary beverages like sodas, juice, fruit
Place limits on screen entertainment such as TV, video games and tablets
Avoid skipping meals or restrictive diets
Involve the entire family in fun physical
Be a good role model for your child with healthy
eating and activity habits
Ruchi Kaushik, MD, MPH, FAAP
Assistant Professor, Pediatrics
Baylor College of Medicine
Medical Director, ComP-CaN (Comprehensive Peds for Complex Needs)
Medical Director, Children’s Hospital of San Antonio Blog
The Children’s Hospital of San Antonio
National School Breakfast Week is March 4-8
Do your school-aged children get a healthy start to every morning? Is your teen sleeping past the alarm and dashing out the door with an empty belly? You have likely heard that breakfast is the most important meal of the day, but why? Children who chow down on the first meal of the day have been found to have:
Better test scores
Better attention span
Healthier body weights
Improved overall nutrition
But, oh my word, rushed mornings are tough! So how can you set them up for caloric success and make sure they slide into their seats before the bell?
Stick to a Routine Plan your morning minutes to include enough time to sit and eat as a family so children do not feel rushed. This may mean setting the alarm 10-15 minutes earlier.
Dine and Dash Although ideally pediatricians recommend that families share meal time together, we also realize this is not always possible. If time is limited, plan quick or grab-n-go meals such as cold cereal with fat-free or low-fat milk, bagels with reduced fat cream cheese, homemade muffins, fruit and yogurt, or hard-boiled eggs. Cereal bars and granola bars are also good options, but be sure to read labels and avoid excessive sugars and corn syrup. If you have time the night before, consider making your own granola. Teens should not use coffee or energy drinks to replace meals.
Sleep Older children and teens often do not stick to a scheduled bedtime and will wake up cranky or too nauseous to eat. Stick to a routine and be sure to encourage sufficient sleep time in your home. For more information, keep your eye out for our sleep blog on World Sleep Day, March 15.
School Breakfast! March 4-8 is National School Breakfast Week and schools make it a point to craft healthy, nutrient-dense menus for your child. Plan for your child to have breakfast at school and they will always be on time!
If you need some quick and easy recipe ideas for breakfast, check out the CHEF program website. Find healthy recipes online by visiting www.chefsa.org/recipes-for-life.
By Rebecca Okashah Littlejohn, MS, CGC
Certified Genetic Counselor
The Children’s Hospital of San Antonio
January is National Birth Defects Prevention Month and the week of January 7-12 is Folic Acid Awareness Week.
According to the Centers for Disease Control and Prevention (CDC),¹ one in every 33 babies in the United States is born with a major birth defect, which is about 120,000 babies each year. Birth defects affect different parts of the body, such as the heart, brain, kidneys, eyes, arms or legs and change how that body part typically looks, works, or both. Some babies may only have one birth defect, while others may have many birth defects. Sometimes we know exactly why these birth defects happen, but often the cause is a mystery. Most occur in the first three months of pregnancy, when these body parts or organs are forming. The March of Dimes has excellent resources about birth defects and birth defects prevention.
One serious birth defect that can happen during pregnancy is called a neural tube defect, which can affect the spinal cord or brain of the developing baby. To help prevent neural tubes defects, the American College of Obstetricians and Gynecologists (ACOG) recommends that all women take a prenatal vitamin that contains 400 micrograms of folic acid beginning at least one month prior to getting pregnant and all throughout the pregnancy.² A woman who is not sure when she plans to get pregnant should take a vitamin with 400 micrograms of folic acid every day.
A woman can increase her chances of having a healthy baby by:
Visiting with her health care provider as soon as she realizes she is pregnant
Talking to her health care provider about any medications she is taking
Talking to her health care provider about any current medical condition
Not drinking alcohol, smoking cigarettes, chewing tobacco, or using street drugs
Talking to her health care provider about any illnesses or infections
Taking prenatal vitamins prior to getting pregnant and during pregnancy
Talking to her health care provider about diet and exercise during pregnancy
One common medical condition that is linked to birth defects is diabetes. In 2014, approximately 15 percent, or one in seven adults, in San Antonio were diagnosed with type 1 or type 2 diabetes.5 Babies born to women who have diabetes have an increased chance of having a baby with birth defects of the skeleton, kidneys, heart, gastrointestinal system, and genitalia.³ Women with diabetes should seek medical care prior to getting pregnant and immediately after they think they might be pregnant.4
There are many other reasons why a baby might be born with one or more birth defects. Genetics professionals specialize in figuring out these reasons and helping families understand what happened, what might happen in the future, and what we can do to make the future as bright as possible. Genetic specialists also can help families understand if birth defects might happen again in another pregnancy.
If your baby has a major birth defect, if you have a family history of birth defects, or if you are currently pregnant and concerned about your risk for a birth defect, consider getting an appointment with a Genetics Specialist in Pediatric Genetics or Maternal Fetal Medicine.
We, the genetics professionals at The Children’s Hospital of San Antonio, encourage you to ask your health care providers about birth defects, folic acid and other vitamins, and diabetes – questions that will help you discover what is best for you and your children. We are ready to support you on your current or future pregnancy journey.
Talk to your doctor or your child’s pediatrician if you need a referral to consult with the Genetics team at The Children’s Hospital of San Antonio. Referrals can be made by calling 210.704.4708.
By Elissa Gonzalez, MD
Baylor College of Medicine
What is constipation?
Constipation is when a child does not poop more than a few times a week, has pain when pooping, or passes large or hard poop. Constipation can lead to encopresis, which is leaking of poop in the underwear which can lead to embarrassment and other psycho-social issues. Common times for constipation to occur are introduction of solids, toilet training and school entry.
How do we, as parents, prevent constipation?
Sit on the toilet Remind your child to use the restroom after every meal to make room for more food. Sitting up straight can also aid in pooping.
Fiber Introduce high fiber foods children will enjoy.
Hydration Give them plenty of opportunity throughout the day to drink water.
Seven high fiber child-friendly foods:
Popcorn An easy on-the-go snack. Avoid extra butter and sugar.
Almonds Another easy snack.
Dark Chocolate Look for cocoa content of between 70-95 percent or higher
Oats Oatmeal is a quick breakfast. Add fruit such as raspberries.
Lentils Cook them like your favorite beans.
Avocados Mix into any dish such as eggs, brown rice, or tuna salad.
Raspberries Pack these for an on-the-go snack.
How does constipation happen?
When a child eats food it goes from the mouth to the stomach then to the intestines. The body begins pulling water from stool so it becomes solid and waits in the rectum. Signals in the body tell the child there is poop in the rectum and they can decide to relax the muscle and go or hold on to it. Many children are embarrassed by the urge to poop and will hold it.
When the child decides to hold his poop it will sit in the rectum and the body will continue to pull water. It will become dry and hard and difficult to push out. Poop will continue to collect and stretch out the colon making the child lose the urge to use the restroom. The rectum is like a balloon and will go back to its original shape the first time it is stretched out, but if it continues to stretch, then it will be flabby and weak and the poop will build up. It may take a year for some children to return to normal after treatment.
Visit with your pediatrician. They may suggest prune juice, medications or even a bowel clean out depending on the severity of the constipation.
Ruchi Kaushik, MD, MPH, FAAP
Assistant Professor, Pediatrics
Medical Director, ComP-CaN (Comprehensive Peds for Complex Needs)
Medical Director, The Children’s Hospital of San Antonio Blog
Baylor College of Medicine
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 lowers blood sugar levels by allowing it to be taken up by our cells so we can use it for energy. One analogy describes insulin as the “key” to opening the door to cells for sugar 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 sugar cannot enter cells and cannot be used for energy because the “key,” insulin, is missing. This is dangerous because sugar is the most important source of energy for our body. There are two types of diabetes–type 1 and type 2.
By Dr. Ruchi Kaushik General Pediatrics The Children’s Hospital of San Antonio
Autumn is my absolute favorite season. The cool, crisp air, warmer-colored foliage, and quickly-approaching holidays energize me to decorate my home and fill the house with scents of baked goods. What mom doesn’t love to fill their little ones’ tummies with apple crisp and pecan pie? So, how do we ensure that our children still get all the nutrients they need through the winter holidays? Recently, several well-reputed physicians in media and health-related websites have compiled a list of “superfoods” that have been known for ages to have health benefits: beans, blueberries, broccoli, oranges, oats, pumpkin, salmon, soy, spinach, tea (green and black), tomatoes, turkey, walnuts, yogurt.
by Lindsay Lambarth, DO
Baylor College of Medicine, PGY-2
The Children’s Hospital of San Antonio
Did you know that almost 40 percent of children with food allergies have experienced severe reactions? And that in the United States, 170 different foods and ingredients have been identified as the cause of allergic reactions?
Halloween can be a difficult time for children with food allergies due to the high risk of reaction when ingredients are not monitored closely. To help keep trick-or-treating safe for children with food allergies, the Teal Pumpkin Project was created. Teal pumpkins serve as a symbol of safety during Halloween for children with food allergies and indicate that non-food items are available.
How can you participate?
Place a teal pumpkin in front of your home (classroom, office, or wherever treats are provided this season) to show that you have non-food items available.
Provide non-food treats such as pencils or stickers for trick-or-treaters.
Display a flyer or poster to inform others of what the teal pumpkin stands for. Follow the link below for free resources and flyers to print.