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.
The Children’s Hospital of San Antonio has three emergency departments dedicated to caring for children experiencing a medical emergency.
Jendi Haug, M.D., Emergency Services Physician
Sometimes it is easy to know when to go to the ER – a broken bone or a cut that needs stitches. But often parents struggle with the decision of whether to take their child to the ER for other reasons.
The Children’s Hospital of San Antonio now has three emergency centers just for children. They are open 24 hours a day, seven days a week, all weekends and all holidays.
Pediatric ERs are special emergency rooms that treat children from birth until age 17. The nursing staff, advanced practice providers such as nurse practitioners and physician associates, and physicians understand that children are not just little adults. Children have their own unique physiology that is different from adults. Their illnesses and injuries are oftentimes not treated in the same manner as an adult with similar symptoms. In a medical emergency, your child needs to see a doctor who only specializes in treating children.
Here are some examples of major and minor instances when you should go directly to your nearest pediatric emergency room:
Newborn with a fever: Any infant 30 days old or younger with a temperature of 100.4 degrees or higher needs medical attention. No matter how you take the baby’s temperature (armpit, forehead, frontal sensors, or rectally), a temperature of 100.4 warrants an assessment by a physician or APP. Infants born premature or with underlying medical conditions are at an even higher risk of serious infection and should continue to come in even at older ages.
Difficulty breathing: Abnormal breath sounds like wheezing or stridor can be associated with bronchiolitis or croup or pneumonia. They can be scary and cause kids to breathe fast. Kids may start working to breath- belly breathing, sucking in the skin between their ribs or refusing to lie down. These are worrisome symptoms and need to be immediately evaluated.
Extremity or bony deformity: When there is an obvious deformity along with swelling or pain, they should be seen that same day for assessment of any possible fracture or dislocation.
Abnormal/unusual behavior or altered mental status: You know your child and are the best gauge of your child’s behavior and their typical baseline. If something is not quite right, they need to see a medical provider for a complete evaluation.
Open wounds not healing on their own: Wounds can be common for kids after a fall or other injury. Wounds that are large enough to be considered lacerations should be repaired soon in order to obtain better wound healing and less scarring. In addition, good cleaning and irrigation will help to prevent infections.
Prolonged vomiting and diarrhea: Infants and young toddlers can rapidly become dehydrated, so even a few hours of symptoms can make them sick. Lack of a good amount of wet diapers or failure to urinate for a prolonged amount of time is a worrisome sign of dehydration for any child.
Fainting or seizure activity: These symptoms should be assessed by a physician or advanced practice provider to determine why these episodes might be happening, especially if they are frequent or prolonged occurrences. A trip to the ER is warranted if your child has not been previously evaluated for fainting or seizures by a pediatric cardiologist or neurologist. Sometimes these symptoms are harmless, but they could also be related to serious medical conditions.
While this list is not exhaustive, these are just a few reasons why your child might require a visit to one of our emergency rooms. When available, discuss any questions you might have regarding the need for emergency care with your child’s pediatrician.
To better meet the needs of our community, The Children’s Hospital of San Antonio recently opened a freestanding emergency center in north-central San Antonio at 1434 E. Sonterra Boulevard, near Highway 281.
In 2015, we opened the city’s first freestanding children’s ER at Westover Hills located at 11130 CHRISTUS Hills, Medical Plaza 3 (located off Highway 151).
The main campus of The Children’s Hospital of San Antonio is one of the largest pediatric emergency rooms in the city. It is located at 333 North Santa Rosa Avenue in the heart of downtown San Antonio.
At The Children’s Hospital of San Antonio, we care deeply about the children in our community and want to help your child during a medical emergency. Please visit our website to learn more about our three emergency department locations.
After being diagnosed with PCOS, Rebekah knew having a child of her own was unlikely. Despite the odds, she gave birth to Paisleigh. But the newborn would have to overcome her very own health challenges.
For as long as she can remember, Rebekah Jowers knew it would be difficult to get pregnant. In 2017, she was diagnosed with Polycystic Ovary Syndrome (PCOS), a hormone imbalance disorder that causes small cysts to form on the ovaries. It was normal for Rebekah to skip her periods for several months or even years. If she was pregnant, a missed period wouldn’t be a clear indicator.
While Rebekah and her fiancé, Logan, were eager to start a family, they knew their dream may not happen, but they clung to hope even though they were hanging by a thread. Rebekah’s biggest dream was becoming a mom. Little did she know, things happen when least expected.
“A few days after my fiancé and I went out for dinner, I started feeling very ill,” said Rebekah. “I couldn’t keep anything down. At first, I thought I had food poisoning. When my symptoms persisted for several days, I went to the emergency room. They gave me IV fluids and a pregnancy test which I didn’t think much about. To my surprise, the nurse told me my test came back positive! I was like, ‘What? Are you sure this is right?’ And she said, ‘Yes, you are pregnant. Congratulations!’ It took me a few minutes to process what I just heard. It was a jaw dropping moment for me because I thought I could never conceive a baby. I have PCOS and the chances of me getting pregnant were slim to none. When I told Logan the news, he was as surprised as I was! It was an amazing moment for us.”
While Rebekah had frequent bouts of morning sickness during the first three months, her baby was growing and developing normally. Her obstetrician, Dr. George Cajas at the Women’s Center at Westover Hills, requested weekly ultrasound visits and her baby was very active and loved to stand up and dance in her belly.
“I love dancing so my baby picked up on that,” said Rebekah. “During my second trimester, Logan and I found out we were expecting a girl. As my pregnancy progressed, I noticed she wasn’t as active, so I went to the ER to make sure she was still breathing. And sure enough, when we saw and heard her heartbeat on the ultrasound monitor, we knew our baby was fine. Since I’m a physically active person, the doctors told me I basically rocked my baby to sleep in my belly. I put her in a deep sleep and that is why she wasn’t moving as much. They told me to lay down in a dark room and drink lots of cold water to wake her up. Sure enough, it worked. She started moving again.”
When Rebekah was 37 weeks pregnant, she began having Braxton Hicks contractions. She was doing everything possible to alleviate the contractions. She’d walk, perform breathing exercises, and move back and forth on a bouncing ball. While it seemed to calm down the contractions, she began having more frequent contractions several days later. At 39 weeks, she was put into the hospital and labor was induced. Her nurses evaluated her progress and noticed the baby’s heart rate was dropping. Whenever Rebekah rolled over to her left side, the baby’s heart rate would go down and so would Rebekah’s blood pressure. But, when Rebekah rolled over to her right side, the baby’s heart rate would go up again, and Rebekah’s blood pressure would return to normal. Her nurses were a bit concerned and monitored Rebekah and her baby more frequently.
“My labor wasn’t progressing well,” said Rebekah. “At that point, I was given medicine to speed up my contractions. As I was going through labor, my nurses checked the ultrasound monitor and they noticed that my baby had ingested meconium (her first stool) which can lead to serious breathing problems after birth. As a result, my obstetrician determined it was best to deliver my baby right away. As I was being prepped for an emergency C-section, my fiancé and I were so nervous. Up until this point, I had an uneventful pregnancy. We tried to stay positive and basically roll with the punches.”
On November 12, the couple welcomed their daughter, Paisleigh, who was born at 39 weeks, and weighed 8 pounds, 4 ounces. Immediately after she was born, Paisleigh was transferred to The Children’s Hospital of San Antonio (CHofSA) since they had a level IV neonatal intensive care unit (NICU).
“As a new mother, it was heart-breaking to see my baby in an incubator hooked up to everything you could imagine,” said Rebekah. “She was on oxygen and connected to different machines. My daughter wasn’t moving, and it was hard to see her in this condition. I was glad she made it here.”
When Paisleigh arrived, she was put under the care of neonatologist Dr. Cheryl Motta and Dr. Maria Pierce, a neonatal medicine physician who provides care for infants with persistent pulmonary hypertension and those in need of extracorporeal membrane oxygenation (ECMO). CHofSA is one of the only children’s hospitals in the region providing this advanced life-saving treatment for infants.
Paisleigh was treated for meconium aspiration, which occurs when a baby ingests amniotic fluid containing meconium (baby’s first stool) into their lungs. When these particles stick to the lungs, it can prevent a baby from breathing properly resulting in respiratory distress. In Paisleigh’s case, she developed persistent pulmonary hypertension, or high blood pressure in her lungs, due to the meconium build-up which restricted the flow of blood into her lungs where it normally picks up oxygen.
“When treating pulmonary hypertension, our primary goal is to increase oxygen flow to the baby’s organs to prevent further complications,” said Pierce. “Severe meconium aspiration and pulmonary hypertension can be fatal. Our team responded quickly and gave Paisleigh the care she needed. To help her lungs recover and heal, we placed her on ECMO for several days, which is a heart-lung bypass machine that takes over the baby’s heart and lung functions and delivers oxygen to the brain and other parts of the body. ECMO is the highest form of life support that can be provided to a critically ill infant. We are fortunate to have the resources available to be able to offer it here at CHofSA.”
After 18 days in the NICU, Paisleigh was discharged on November 30, just weeks before Christmas, which is what Rebekah and Logan had hoped for. Rebekah says if it weren’t for the wonderful doctors and nurses who took such great care of her baby, her outcome could have been completely different.
“I had the greatest team of doctors and nurses,” said Rebekah. “They were amazing since the first day my daughter was transported to the NICU. If I had a question or concern, it was never hard to reach them. As a first-time mother, I had so many questions to ask them. I credit the NICU care team, including Dr. Pierce and Dr. Motta who were Pasleigh’s primary physicians, for saving my daughter’s life. Despite everything we’ve been through, I am grateful my baby is alive and with us.”
Today, 2-month-old Paisleigh is doing remarkably well. She can breathe on her own and acts like any other healthy baby. She is a miracle to her parents, and her personality is beginning to show.
Rebekah credits the ECMO program at The Children’s Hospital of San Antonio for helping her daughter survive during a critical period. The ECMO program at CHofSA is the most active, comprehensive, and experienced neonatal, pediatric, and cardiac ECMO center in South-Central Texas since 1989, providing ECMO treatment to critically ill infants and pediatric patients. Additionally, the program has been internationally recognized as an Extracorporeal Life Support Organization designated “Center of Excellence.” Click here for more information about the ECMO program at our children’s hospital.
When Emily became pregnant with her fourth child, she and her baby needed the comprehensive care offered at The Children’s Hospital of San Antonio. Her high-risk pregnancy was managed at CHRISTUS Women’s Health and her son received outstanding care in the neonatal intensive care unit.
Emily Garcia and her husband were surprised and excited about adding a fourth child to their growing family. They wanted to pick a unique name for this child and decided to name him River upon learning they would be having a boy.
“One day, I was going through a list of names and stumbled upon ‘River,'” said Emily. “I thought it was different, and it just stuck.”
No stranger to high-risk pregnancies due to her high blood pressure and gestational diabetes, Emily made an appointment with her obstetrician, Dr. Tracy Lyon at CHRISTUS Women’s Health associated with The Children’s Hospital of San Antonio (CHofSA). When Emily was about 12 weeks along, Dr. Lyon detected on the ultrasound that River’s chin was tiny and pushed back. And at the 20-week mark, they also discovered that River had a clubfoot, a birth defect that affects muscles and bones in a baby’s feet, making their foot (or both feet) point down and in.
“I was super emotional because I had never dealt with anything like that with my previous pregnancies,” said Emily. “But my husband and I decided to take it one day at a time and deal with whatever came our way.”
Doctors recommended that Emily undergo an amniocentesis, a procedure where a small sample of amniotic fluid is taken to be tested for any abnormalities that might have caused River’s small chin and clubfoot. Everything came back negative.
Doctors wanted to keep a close eye on River and scheduled weekly ultrasounds for Emily to check on his progress.
The remainder of Emily’s pregnancy was uneventful until she hit 35 weeks and started feeling a little “off” and suspected that her blood pressure was high. She decided to take it, and sure enough, it was. She waited an hour or so to see if her medicine made a difference and when it didn’t, she called her doctor.
After doctors put her on a different medication and placed an IV, Emily’s blood pressure was still elevated. So, the doctors prepared her for a C-section.
Once they delivered River, doctors discovered that in addition to the small chin and clubfoot, he also had a cleft palate, a condition where the roof of the mouth does not fuse completely during pregnancy.
“The doctors attending River’s delivery were super concerned about him, so they took him to the neonatal intensive care unit (NICU) immediately after he was born,” said Emily.
Because Emily was given magnesium to help her recover from her C-section, she could not see River right away.
When she finally did get to see River, he was doing well. He could breathe on his own, which was a good sign. Dr. Maria Pierce, River’s primary physician in the NICU, told Emily that as he grew, River’s need for supplemental oxygen may increase, which it eventually did.
As with most NICU babies, River’s journey in the NICU was somewhat of a rollercoaster, but through it all, the team at CHofSA kept Emily, and her husband updated every step of the way.
“I had a lot of communication with Dr. Pierce and some of the other physicians. They were always so helpful and understanding. It was a constant ‘two steps forward, one step backward’ scenario,” said Emily.
River was having some issues eating and, as a result, had trouble gaining weight. When he would try to eat, his heart rate would drop, which was somewhat concerning. After the speech pathologist conducting a swallow test, together with River’s doctors they pinpointed precisely what he needed to help him eat.
When he was about six weeks old and after he had gained some weight, River reached the point where he could have his jaw distraction surgery. Dr. Alejandra Garcia de Mitchell, his plastic surgeon, and her team carefully positioned plates in his jaw and little pins behind his ears. Every day, the doctors would turn the pins to help push his jaw forward.
“In a side-by-side comparison of what River looked like before surgery and what he looked like afterward, it was an amazing transformation,” said Emily. “He looks like a completely different baby.”
In total, River spent 70 days in the NICU at CHofSA.
As for his clubfoot, Dr. Elizabeth Magnabosco, an orthopedic surgeon with Baylor College of Medicine at CHofSA, is treating it with ‘casting’ and his foot has slowly started to turn in the correct position. Dr. Magnabosco is also using the “boots and bars” mechanism, where boots and bars are used to stabilize the muscles and ligaments and prevent them from tightening up.
When River finally was able to go home, Emily and her husband were excited but also a bit overwhelmed. Before they left the hospital, they needed to know everything necessary to care for River at home. And they needed to be prepared to keep track of his many doctor’s appointments, including setting up physical therapy for his foot and face. He also needed to have the distractors removed, a procedure he recently had done.
Emily and her family are immensely grateful to the team at CHofSA for taking such great care of River, especially the plastic surgery team.
“The plastic surgery team made my life 10 times better. He’s able to do so much more than I ever thought he’d be able to do because of them,” said Emily. “They brightened the outlook for my son and increased his quality of life.”
The nursing team also made a significant impact on River and his family. There are two in particular that come to mind – Kim and Alison.
“Kim went above and beyond for us as far as River was concerned. She always took care of us and made sure we always knew what was going on,” said Emily. “And Alison took care of River during the night and was super helpful in making sure he was always fed, which could be complicated at times.”
The only surgery ahead of him is the procedures to correct his cleft palate. When he is a little older, Dr. Garcia de Mitchell will perform the surgery to repair his cleft palate in two stages. The first stage will be to correct his soft palate when he is about a year old, and the second phase to correct his hard palate will occur when he’s between 15 and 18 months old.
In the meantime, River is reaching some key milestones. He loves to be held, enjoys his swing, and has started to smile and even talk a little.
“There were times when I wasn’t sure we would ever see him smile,” said Emily. “Now, when he does, it means the world to me.”