A Prayerful Journey for Jonah

Sylvia and Matt Arismendez were thrilled when they heard they were pregnant with their fifth child. They were looking forward to a new bundle of joy to love.

All of Sylvia’s other pregnancies were normal in that neither she nor her babies experienced any major complications. But this pregnancy was shaping up a little differently. Not only did Sylvia have gestational diabetes, but she had an excess amount of amniotic fluid, which can lead to pre-term labor and other issues. In addition, they also learned that their unborn baby had a condition known as right-sided congenital diaphragmatic hernia or R-CDH.

CDH occurs when the diaphragm, the muscle that separates the chest from the abdomen, doesn’t close during prenatal development. The baby’s abdominal organs push (herniate) through the defect into the chest cavity impacting the baby’s developing lungs.

“Along with learning all the aspects of this condition, we also discovered that it’s extremely rare,” said Sylvia. “And the chances of survival, especially for a right-sided diaphragmatic hernia, are extremely low.”

CDH has a prevalence of about 1-4 per 10,000 births, of which approximately 85% are left-sided (L-CDH), 13% are right-sided (R-CDH), and 2% are both sides. At first, Sylvia and Matt were told that their baby – who they would eventually name Jonah – had a 30 – 40% chance of survival. But, as they met with more specialists, that survival rate dwindled to only 5% – something Sylvia and Matt were not prepared to hear.

“At this point in our journey, we were being told that Jonah’s only option would be palliative care and that there was nothing that doctors could do to save his life,” said Sylvia.

They were determined to find another way to help Jonah and weren’t going down without a fight. So, they prayed and began exploring other possibilities.

 When they learned about a hospital in Houston that delivered CDH babies, they decided they would pursue that route and then discovered that The Children’s Hospital of San Antonio (CHofSA) provided the same services. It was right in their own backyard.

“I had a 2-year-old, 4-year-old, 6-year-old, and 8-year-old enrolled in homeschooling, and my husband was working full time. So, it was not ideal for us to pick up and go to Houston,” said Sylvia. “At the same time, we wanted to give Jonah a fighting chance and decided to inquire about what CHofSA could do to help him.”

As soon as she made the call to CHofSA, Sylvia knew they had made the right decision. That was on a Friday. On Monday, she met with Dr. Cody Henderson, neonatologist, and Dr. Katherine Barsness, Jonah’s surgeon.

Dr. Cody Henderson was among the first doctors to meet with the Arismendez family to discuss Jonah’s condition before he was even born.

The minute they walked into the hospital, Sylvia said she and Matt felt a sense of peace. Since they were devoted Catholics, the couple was comforted by all the images of Mary, Joseph, and Jesus surrounding them. 

Once again, they heard the odds were not in their favor and that Jonah had a slim chance of survival. So, they and the doctors both relied on the power of prayer. Sylvia remembers Dr. Barsness telling them the care team would pray before Jonah’s procedure, during and after. She also told Sylvia that they would do everything in their power to keep Jonah alive.

The Arismendez family were relieved to know that the expertise of surgeons like Dr. Katherine Barsness are available in San Antonio. They thought they needed to uproot their family and move to Houston to be closer to the kind of care he would need.

At this point, Sylvia was about 35 weeks into her pregnancy. To help Jonah have the best possible outcome and allow his little lungs to grow, they decided it would be best to try and get Sylvia as close to 40 weeks as possible.

Doctors scheduled Sylvia to have her C-section at 38 weeks on November 2, 2021. To the surprise of her physicians, her level of amniotic fluid reduced and went back to normal right before Jonah was born. It rarely happens and perhaps would help Jonah have a positive outcome.

“I remember the room was full of nurses and specialists ready to assist as soon as Jonah was born,” said Sylvia. “I had prepared myself for the idea that they would not give him a chance to cry. They needed to get him intubated as quickly as possible.”

Sylvia and Matt had a minister on hand to baptize Jonah right away, just in case things took a wrong turn. It was not until that evening that she was able to visit Jonah in the Neonatal Intensive Care Unit (NICU) and lay eyes on her newborn baby. She learned that he had been immediately intubated and placed on extracorporeal membrane oxygenation (ECMO). The ECMO machine is similar to the heart-lung by-pass machine used in open-heart surgery. It pumps and oxygenates a patient’s blood outside the body, allowing the heart and lungs to rest.

Jonah stayed on ECMO for six days. Sylvia and Matt later found out that it’s a regular practice for CHofSA to keep babies on ECMO for a maximum of two to three weeks because it thins their blood and increases the risk of having a seizure or stroke. Jonah did experience over 30 seizures and had a significant stroke while he was on ECMO. He wouldn’t have survived if the doctors had taken him off too early.

Jonah was off ECMO and had reached a major milestone. His next milestone would be surviving surgery.

When he was seven days old, Jonah had surgery to repair the CDH. Dr. Barsness explained to Sylvia and Matt that there was a chance that when they moved Jonah’s organs to the right cavities that his intestines may not fit, and they would have to create a pocket outside of his body until everything settled into place.

“It sounded scary, but the doctors assured us that it was normal,” said Sylvia.

Sylvia and Matt once again turned to prayer and asked everyone they knew to pray for baby Jonah. At one point, thousands of people were lifting Jonah in prayer. People from all across the world – people Sylvia and Matt didn’t even know – were praying for their baby.

Matt held his son Jonah as he recovered from surgery in the Neonatal Intensive Care Unit at The Children’s Hospital of San Antonio. The family relied heavily on their faith in God and confidence in the medical staff who cared for Jonah.

Once again, Jonah defied the odds. Doctors were able to make sure all of his organs and intestines fit. It was yet another miracle, and another prayer answered.

 “We felt God’s presence every step of the way. We knew that He was taking care of us, and we needed to trust that He was providing all the resources we needed. He had guided us to the right people when we needed them, and he helped us make the right decision for Jonah,” said Sylvia.

Jonah was turning a corner but had a couple of challenges ahead of him. First, he needed to be weaned off morphine, something Sylvia said was tough on him. After all, Jonah had been on the drug for the first two and half months of his life. He also would need a tracheostomy, a small, surgical opening through the neck into his windpipe to help him breathe better. He also was going to need a gastrostomy tube to help him eat. Despite developing multiple infections, including a bout with pneumonia, Jonah recovered and eventually was able to go home.

After four months in the NICU, Jonah was finally ready to go home with his parents Sylvia and Matt.

In total, Jonah spent four months in the NICU.

Sylvia and Matt were grateful for the physicians: Drs. Pratik Parikh, who became his main neonatologist, Dr. Barsness along with a team of other neonatologists, our occupational therapist, physical therapist, respiratory therapist and the nurses who took such great care of Jonah every step of the way.

Dr. Pratik Parikh was Jonah’s primary neonatologist during the four months that he spent in the NICU.

“Our two main nurses were Madison and Rachel. They were so wonderful with Jonah and became familiar faces to him. You could tell they cared a lot about him, which meant a lot to me,” said Sylvia.

Every time they hit a bump in the road with Jonah’s care, everyone prayed: Sylvia, Matt, the doctors, and the nurses. Sylvia said everyone on the care team was so compassionate and caring, but what impressed her the most was how they relied on God to lead them.

Now that he is at home, Jonah has progressed quickly. Sylvia says he’s active, and when he goes to physical, occupational or speech therapy, they are blown away by his development.

“They can’t believe that he was in the NICU for so long and yet is so strong and is picking up on many things,” said Sylvia. “Overall, he’s doing exceptionally well, and the doctors expect him to be a normal functioning child as he continues to grow.”

After leaving the hospital, Jonah has continued to thrive with the help of physical therapy.

It was believed that Jonah’s right lung may never function. But, once again, Jonah has defied the odds – his left lung is completely inflated, and his right one is functioning. Sylvia believes it’s the result of fervent prayer and the care he received at CHofSA.

“My hope for Jonah is that he will become a strong man physically, mentally and emotionally,” said Sylvia. “I want him to be able to share his story and serve as a beacon of hope to others.”

To learn more about the general surgery department at CHofSA, please see: https://www.christushealth.org/childrens/services-treatments/surgery/pediatric-general-surgery. To learn more about the NICU, please see: https://www.christushealth.org/childrens/services-treatments/nicu

Small But Mighty

When Josefina Betancourt learned she was pregnant for the fourth time, it came as shocking news. It was not a planned pregnancy, and she had her hands full with three other children, including an 8-month-old. But as time progressed, she and her husband became increasingly excited about the arrival of a new addition to their growing family.

With this pregnancy, Josefina decided to try a different obstetrician, one that was a bit more convenient and closer to home. After studying some online reviews and doing some research, Josefina selected Dr. Mallory Thompson at The Women’s Center at Westover Hills. 

Her first trimester was uneventful, and Josefina was feeling blessed that she was not experiencing any symptoms. Everything was going well until she had her first anatomy scan.

During her appointment, Dr. Thompson and her team noticed that Josefina’s baby had some extra skin and fluid behind its neck. At the time, Dr. Thompson suspected that the baby had Turner’s Syndrome, a condition that occurs only in females when one of the X chromosomes is partially or entirely missing. It can cause a variety of medical and developmental problems, including short height, failure of the ovaries to develop, as well as heart defects. But because Josefina and her husband were soon going to have a gender reveal party, Dr. Thompson suggested not researching Turner Syndrome until after the party. She reassured Josefina they would further discuss the findings at the next appointment and that for the time being she wanted Josefina to enjoy her gender reveal party.

Shortly before holding a gender reveal party, the Betancourts learned their baby daughter might be born with a rare condition known as Turner’s Syndrome.

Josefina and her husband went forward with the gender reveal party and were excited they would be having a girl. In the back of her mind, though, Josefina couldn’t help but worry. She decided to arm herself with knowledge, so she and her husband read everything they could about Turner Syndrome to learn more about the condition and what to expect. 

About a month after the initial anatomy scan, Josefina had another appointment with Dr. Thompson. This time, now that Josefina knew the gender of her child, Dr. Thompson discussed Turner Syndrome and what it would mean for Josefina’s baby, who she would eventually name Diana. Dr. Thompson referred Josefina to Dr. Emma Rodriguez, a maternal-fetal specialist with the Center for Maternal and Fetal Care at The Children’s Hospital of San Antonio. During the first appointment at the specialty center, Dr. Rodriguez noticed an issue with Diana’s heart.

Josefina was referred to Dr. Emma Rodriguez with the Center for Maternal and Fetal Care at The Children’s Hospital of San Antonio. Dr. Rodriguez kept close tabs on Josefina as her pregnancy progressed.

“At that point, everything was just so overwhelming, but I was grateful that my baby and I were in the hands of a great team of doctors,” said Josefina.

As soon as Josefina reached her third trimester, Dr. Thompson gave Josefina clear instructions to head straight to The Children’s Hospital if she felt she was going into labor. Diana would need access to the neonatal intensive care unit (NICU) when she was born.

When Josefina went in for one of her regular appointments at almost 37 weeks, Dr. Rodriguez’s team noticed that Josefina’s amniotic fluid was low. They decided to admit Josefina to Children’s and administered an IV. The IV did not help increase the amniotic fluid and the doctors decided to induce labor. The drug used to induce labor, Pitocin, had to be stopped and started a couple of times because it was accelerating Diana’s heartbeat. Josefina was admitted to the hospital on a Tuesday and finally, on Thursday, August 29, 2019, Diana was born.

“I carried Diana until she was 36 weeks and five days old, which was a real blessing considering that the mortality rate for babies with Turner Syndrome is high. The fact that Diana made it to almost full-term was a miracle in itself,” said Josefina. 

The immediate moments following Diana’s birth were touch and go. Josefina was only able to touch and kiss her for a few brief seconds before being handed to the NICU team who started administering oxygen to Diana because she wasn’t breathing.

Josefina was able to hold Diana for only a brief moment before the team from the Neonatal Intensive Care Unit began giving her oxygen to help her breathe.

“Thankfully after a short time, she responded and started crying. It was the most beautiful sound in the world,” remembers Josefina.

Shortly after birth, Diana had an echocardiogram. The ECHO revealed that Diana’s aorta was narrow and she would need a complex procedure on her heart known as an aortic arch repair.

Dr. Daniel Nento, chief of pediatric cardiothoracic surgery and extracorporeal membrane oxygenation at Children’s, and his team, whom Josefina and her husband had the opportunity to meet prior Diana’s birth, communicated the diagnosis and the implications.

Dr. Daniel Nento, a pediatric cardiothoracic surgeon, carefully explained Diana’s condition and the procedure he needed to perform on her tiny heart.

“It was definitely scary and not what we wanted to hear, but Dr. Nento’s thorough explanation in a very calm, confident and straightforward manner was helpful,” said Josefina. “We knew that our baby girl was in great hands.”

Six days after she was born, Diana underwent open-heart surgery and it was a success. The surgery team at Children’s was clear with Josefina and her family that the procedure would take seven to eight hours. Josefina recalls those hours being the longest of her life. But every step of the way, they would receive updates personally or via text letting them know how Diana was doing.

In addition to the aortic arch repair, Diana would need a gastrostomy tube, often referred to as a G-tube, to help with her feeding. After the surgery, Diana presented paresis of the left vocal fold and eating by mouth was a challenge.

In total, Diana stayed in the NICU for nearly two months and went home at the end of October. A little over a year later, she required a second heart surgery. Her cardiologist, Dr. Jesse Lee, noticed there was a tissue forming under her bicuspid valve that continued to grow and was obstructing her blood flow. The only way to remove that tissue was for Diana to have another surgery.

“She did amazingly well, so well that she was discharged five days later for a procedure that I was told to expect a recovery period to be between seven to 14 days,” said Josefina. “She had no complications, and we were extremely grateful.”

Today Diana lives a life like many other healthy 2-year-olds. She has some noticeable physical characteristics common in Turner Syndrome, like lymphedema in her hands and feet and a wide weblike neck, but that has not stopped her.

“She loves to dance and sing; she loves books and enjoys reading and playing. We’re working with her to get her to eat more orally,” said Josefina.

Josefina is grateful for the medical team at The Children’s Hospital for giving Diana the chance to have a joyful childhood. Today, Diana’s favorite activities are singing, dancing, playing and reading books.

Josefina and her family are grateful to the team at Children’s including Dr. Rodriguez and Dr. Nento for their care and support during their journey.

“Their expertise and knowledge are admirable to me. I’m so grateful Diana received the attention and care she needed so early on,” said Josefina. “The doctors were always willing to meet with us and were very transparent so that we were aware of what was going on and the plan of action.”

Josefina was particularly impressed by Dr. Nento and how he could perform heart surgery on such a tiny baby and heart. His abilities and compassion blew her away.

As Diana continues to grow, Josefina hopes that she will be able to experience a joyful childhood and believes that without a doubt, her daughter is destined for great things.

“I know in my heart that Diana is a fighter. Having gone through so much since birth, I know that she has a wonderful mission and purpose in this life. And my goal is to make sure she finds it and leads a happy and healthy life,” said Josefina.

To learn more about the Heart Center at Children’s, visit: https://www.christushealth.org/childrens/services-treatments/heart-care

Our Fighting Heart Warrior

When Florencia Rivera learned she was pregnant, she knew in her heart she was having a boy. When the blood work revealed she was right, she was over the moon with excitement.

Besides being a little sleepy, her first trimester was uneventful. However, during her second trimester, Florencia and her doctors became concerned.

“I wasn’t gaining any weight. With my first child, I gained 80 pounds, and with my second baby, I gained 40,” said Florencia. “Instead of gaining weight, I was maintaining it or not gaining very much; I just knew something wasn’t right.”

Florencia’s motherly intuition was correct: The anatomy scan revealed that her baby boy had multiple heart defects. Her maternal-fetal medicine (MFM) doctor told her she needed to make an appointment with a pediatric cardiologist.

This all was happening as Texas was experiencing one of the harshest winters on record. Roads were iced-over and electricity was out for residents and businesses across the state, making it challenging to schedule medical appointments.

Finally, when she was about 24 weeks pregnant, Florencia could get in to see the pediatric cardiologist. The doctor told her that if her baby was going to need surgery, it wouldn’t be until he was between 4 and 6 years old. However, she advised Florencia to ask for an echocardiogram after the baby was born to make sure everything was OK. 

At 36 weeks and 6 days, doctors induced Florencia, she delivered her baby boy, who she named Derick Ivan. Derick was born weighing 4 pounds, 4 ounces, and 17 inches long. He was immediately taken to the neonatal intensive care unit.

As instructed by her pediatric cardiologist, Florencia asked about the echocardiogram for Derick. It revealed that Derick had three heart defects: coarctation of the aorta, aortic valve stenosis and patent ductus arteriosus.

• Coarctation of the aorta is when the tube that carries oxygen-rich blood to the rest of the body is narrower than usual.
• Critical aortic valve stenosis happens when the heart’s aortic valve narrows. When the valve doesn’t open fully, it reduces blood flow from the heart to the aorta and the rest of the body.
• Patent ductus arteriosus (PDA) is a heart defect in which a normal fetal connection between the aorta and the pulmonary artery does not close as it should after birth. PDA occurs most commonly in premature infants and often occurs with other congenital heart defects.

The doctors at a local hospital attempted to perform surgery to repair the coarctation of the aorta when Derick was 9 days old but Derick’s heart stopped beating twice – once at the beginning of the procedure and once during recovery. That is when doctors decided to transfer Derick to The Children’s Hospital of San Antonio (CHofSA) to continue his care.

Dr. Victor Bautista, a pediatric cardiologist, performed surgery on Derick when he was just 19 days old.

Upon arrival, the team at CHofSA evaluated him and learned that all his organs were in distress. Dr. Victor Bautista, a pediatric cardiothoracic surgeon, was ready to operate on Derick, but opted to wait until he was more stable. In the meantime, Derick suffered a stroke and a seizure, making an already complicated situation more complex. Dr. Bautista also discovered that Derick had a three additional heart defects; unicuspid aortic valve, atrial septal defect (ASD) and ventricular septal defect (VSD).

• The unicuspid aortic valve is a very rare congenital anomaly, which usually presents as aortic stenosis, incompetence or a combination of both. 
• An ASD is a birth defect of the heart in which there is a hole in the wall (septum) that divides the upper chambers (atria) of the heart.
• A VSD is a birth defect of the heart in which there is a hole in the wall (septum) that divides the lower chambers (ventricles) of the heart and allows blood to pass from the left to the right side of the heart.

Florencia wasn’t sure what to think about these additional defects but knew Derick was in the right place to have them taken care of. On June 11, 2021, when Derick was just 19 days old and weighed only 4.4 pounds, he underwent surgery to repair the first three heart defects and he came out like a champ.

“The team was great about keeping us up-to-date every hour on the hour,” said Florencia. “We knew what was happening every step of the way.”

Derick did so well that he did not need to go on the extracorporeal membrane oxygenation (ECMO) machine, which was a huge blessing.  Florencia remembers seeing Derick with his chest open, with tubes and wires. A wave of relief came over her and tears of joy flowed. 

“I was overwhelmed and in a state of being incredibly thankful and blessed. While it was scary to see Derick in that condition, it was a beautiful thing to witness his heart beating under his wall chest,” said Florencia. 

But Derick wasn’t out of the woods yet. He developed a condition called a chylothorax, an accumulation of lymph fluid around the lungs that made it difficult for Derick to breathe. He had to be put on a ventilator for well over a month. 

After coming off the ventilator, Florencia was hopeful that maybe Derick would take a turn for the better. Instead, he needed yet another open-heart surgery because his aorta was narrowing. This heart defect is called supravalvular aortic stenosis (SVAS) and is a type of heart defect that develops before birth. It is characterized by a narrowing (stenosis) of the section of the aorta just above the valve that connects the aorta to the heart (aortic valve).

Once again, Baby Derick came through with flying colors and was able to have a gastronomy tube inserted in preparation to go home. 

In total, Derick spent 137 days in the hospital and went home on Florencia’s birthday. During this entire time, it was extremely difficult for Florencia to leave his side but only did on most weekends to attend to her other children at home.

“I wanted him to know that I was always there and he could count on me. That way when he looked up, he always saw a familiar face and could hear a familiar voice; I thought that was very important,” said Florencia. 

Since he’s been at home, Derick has flourished. He has gained weight very well and it seems that he just blew up overnight and went from newborn clothes to 9 -12 months sizes.

Florencia is grateful for the care her son received at The Children’s Hospital of San Antonio.

As for his long-term prognosis, Derick will need another surgery down the road. For now, he takes several heart medications to keep things in check and seizure medication to keep those under control. He also takes medication for hyperthyroidism and he also has sacral dimples which go hand-in-hand with tethered cord syndrome. Tethered cord syndrome is a rare neurological condition in which the spinal cord is attached (tethered) to the surrounding tissues of the spine. Derick will have an MRI and CT scan in the near future to determine if in fact he has Tethered Cord Syndrome and if he does, doctors have told Florencia that Derick will most likely need surgery to correct it. 

Florencia and her family are incredibly grateful to CHofSA for everything they did for Derick.

 “The nurses and the doctors were all so wonderful and patient with me, teaching me everything that I needed to know in order to take care of Derick,” she said. 

During Derick’s stay at CHofSA, he and Florencia were introduced to the music therapy program. “Listening to the music was something that Derick seemed to enjoy and an activity that soothed him.” Florencia said “everyone in the hospital – from the doctors and nurses to housekeeping and maintenance – did their part to help make Derick and my stay as best as possible.” 

“Derick is such a blessing from above and having him home and being able to watch him grow from the comfort of our own home is a real gift,” she said. 

One of Florencia’s family members made a keepsake quilt for Derick. In the center is a photo of Derick’s grandmother, who has since passed away. Florencia wanted members of the CHofSA PICU team to sign the quilt and she wanted Dr. Bautista to sign it first. 

“It was just appropriate for him to be the first in line,” said Florencia. “He’s the reason why Derick is here today.” 

Derick is the true definition of what it is to be a heart warrior and thanks to the care team at CHofSA, he has faced and conquered all his diagnoses. Earlier this year, Florencia received unexpected and devastating news that Derick had liver cancer, a diagnosis that Florencia never expected to be hit with. In part 2 of this blog, Florencia will talk about how Derick has continued to fight for his life through this latest turn of events.

To learn more about Heart Care at CHofSA, please see: https://www.christushealth.org/childrens/services-treatments/heart-care.

Twins with Autism Benefit from Therapy and Mom’s Boundless Love

Alisha’s twin sons Xander and Royal were diagnosed with autism when they were 4 years old. Today, they are 11 and thriving with the help of their devoted mom, behavioral therapists, and Dr. Andrew Martinez, a psychologist and program director at the Comprehensive Autism Program at The Children’s Hospital of San Antonio. We asked Alisha to share her experience through the following Q&A.  

When and how did you first find out about your children’s diagnosis?  I noticed significant delays in developmental milestones and behaviors with my twins at a very young age. Speech, smiling, eating, and drinking were minimal to nonexistent. They also displayed daily, repetitive unique, rhythmic mannerisms, motions, and patterns. Those were some of the cues that gave me enough concern to suspect the twins may have autism.

The love I had for my boys outweighed any fear I had of a diagnosis. Whatever it might be, I needed help and information. So I took the initiative to ask their primary care provider for an evaluation for autism spectrum disorder. Without pause, I received the referral for both boys to be seen and evaluated by Dr. Martinez. After testing, he confirmed the diagnosis. Both twins had autism. Each child was sitting at their own spot on the spectrum. They each had their own set of strengths, gifts, and challenges. That is where our journey began. 

As twins, Royal and Xander share everything including a diagnosis of autism. Both boys now thrive with the help of Applied Behavioral Analysis therapy.

Describe your treatment plan. Why did you choose this treatment plan?    Royal and Xander both receive one-on-one Applied Behavioral Analysis (ABA) therapy. I chose this specialized therapy because they each have a personalized treatment plan specifically outlined for them. The goals for my children are carefully planned and written out by a program manager, then reviewed and approved by their doctor. My input as an involved parent is always incorporated into their treatment. ABA therapy can be hard, it is work, but that is precisely why I wanted my boys to have it. ABA therapy is the gold standard of care for any child on the autism spectrum. The payoff has been incredible for our family. 

Dr. Andrew Martinez is the Autism Program Director at The Children’s Hospital of San Antonio. He provided the evaluation and diagnosis of autism for Xander and Royal when they were 4 years old.

What has your experience been like with The Children’s Hospital of San Antonio Autism Program? My experience at the CHofSA Autism Clinic has been nothing but positive, informative, and helpful.  Royal and Xander are almost 11 years old now. It is hard to put into words the change in my boys since they have been in care. There have been remarkable improvements all the way around. Speech. Behavior. Demeanor. Understanding. Social interaction. Everything. Had I not reached out to the clinic for help, none of this would have been possible. 

What would you tell other families who have just received a diagnosis?   When my little twins were officially diagnosed, I was confused, frustrated, and scared. You may be feeling all of this and much more. Try to take comfort in knowing this. Now that you know, you can do something about it. There is so much power in information! The help, peace, and clarity you are seeking for yourself all come with this diagnosis. The number of helpful resources available to you and your family is endless. The heights your child can reach are limitless. The love and support your child receives at home counts more than anything else.  

Alisha was overwhelmed with fear when she first received a diagnosis that her twin sons were autistic. But along with the diagnosis she received information and resources that put the boys on track to learn and develop.

 Anything else you would like to add?   The love I have for Royal and Xander is boundless. That is why I will always be their voice and their most fierce advocate. In all things, I have been and will continue to be the voice for other children and families in need of a helping hand as well. Royal and Xander are not only twin brothers. They are best friends. Where one is weak, the other is strong. Most importantly, they both know Mama is right there to pick up any slack when necessary. 

If you need more information about autism, talk to your child’s pediatrician and request a referral for an autism evaluation.

Heart Full of Hope

Joanna Hargett and her husband, James, were on a whirlwind trip across North America when she discovered she was pregnant with her third child.  

“Our two other children were young and not in school, so we decided to join my husband on his business trips and enjoy some quality family time,” said Joanna. “When I learned I was pregnant, I knew it was time to get back home.”

After Joanna and her family settled back into their home in Brady, Texas, located about two-and-a-half hours from San Antonio, she went in for her first prenatal visit and ultrasound. Joanna’s motherly instincts kicked in during the sonogram, and she knew something was not right. 

“It took them forever to find the heartbeat, and that made me nervous,” said Joanna. “I messaged my husband and told him that something was wrong with our baby’s heart.”  

Joanna was referred to maternal-fetal specialist Dr. Lissa Melvin with the Center for Maternal and Fetal Care at The Children’s Hospital of San Antonio. Bound and determined not to sink into despair, Joanna remained calm and told herself not to worry.

“I leaned on my faith and knew whatever was happening, it was in God’s hands,” said Joanna. “I knew I had to remain strong not only for the child I was carrying – Madeleine ‘Maddy’– but for my other two daughters I had at home,” Joanna said.  

When went to see Dr. Melvin,  she informed Joanna that her baby had a condition known as hypoplastic left heart syndrome, a rare and complex heart defect that happens at birth. When a baby has hypoplastic left heart syndrome, the left side of their heart is underdeveloped, leaving the right side of the heart to do all the work. While advancements in modern medicine have improved the outlook for babies born with hypoplastic left heart syndrome, there are still cases in which babies do not survive. 

Dr. Lissa Melvin, a maternal fetal medicine physician, helped to diagnose Maddy’s heart condition.

Dr. Melvin referred Joanna to pediatric cardiologist Dr. Monesha Gupta at The Children’s Hospital. Dr. Gupta is the director of the Fetal Heart Program and she began to track Maddy’s development.  

Dr. Monesha Gupta helped develop a treatment plan before she was even born.

“Once I realized that Maddy would require multiple surgeries, one at birth and one at six months, I decided we couldn’t continue to make the trip from Brady regularly,” said Joanna. “But I was tired. I was pregnant, and I had no energy. I didn’t want to move.”

Not too long afterward, Joanna and her husband learned about a family interested in renting their house, allowing them to find an apartment closer to the hospital.  

“Things lined up perfectly, confirming that we made the right choice to move closer to Children’s, at least for the time being,” said Joanna.  

As Joanna settled her family into the apartment, she received an unexpected and unsettling phone call. The Heart Center team had weighed all the options and felt that she would benefit from having access to an interventional cardiologist immediately after birth or after her surgery. Due to the unavailability of an interventional cardiologist during the time of her scheduled delivery, it was recommended for her to consider delivery and cardiac surgery in Houston.

The phone call threw Joanna for a loop. After all, she had already uprooted her family, and the idea of moving to a new city where she did not know anyone was quite daunting – especially nine months pregnant. 

After evaluating her options and knowing Children’s surgeons could perform Maddy’s surgery, Joanna and her husband decided to stay in San Antonio. She put all her faith in the medical team at Children’s and knew deep down she had made the right choice.  

“I understood that I owed Maddy everything I could give her,” said Joanna. “But I also understood that I was a mother to a 3-year-old and 2-year-old, and I owed them everything as well. I had made my decision.”

Knowing there was a chance that Maddy might not survive, she did what any mother would do: plan. She knew for sure that she wanted to have Maddy to baptized, so Joanna enlisted a chaplain’s help and spoke to Child Life about what steps she would need to take if the worst-case scenario came to fruition.  

“It was all really overwhelming, and I just wanted to be ready for either outcome,” said Joanna.  

When the delivery day arrived, Joanna had her first C-section and was not sure what to expect. Since learning that Maddy had a heart defect, she had remained strong, but when she heard Maddy crying after she was born, Joanna let her tears finally flow.  

“The entire time, I had been strong and kept a handle on my emotions, but when Maddy made her entrance into the world, I could no longer keep them inside,” said Joanna.

As soon as Maddy was delivered, nurses rushed her to the neonatal intensive care unit (NICU), where the chaplain baptized her. Joanna could not hold Maddy for the first couple of days, but she remembered that it was truly amazing when she finally had the opportunity. 

Maddy was born on the Thursday before Thanksgiving, and less than a week later, she had her first surgery performed by Dr. Victor Bautista-Hernandez, a pediatric cardiothoracic surgeon at Children’s.  

“When I first met with Maddy’s mom months before delivery, we had a long and frank conversation regarding her daughter’s severe condition,” said Dr. Bautista-Hernandez. “Maddy not only had one of the most complex forms of congenital heart diseases, hypoplastic left heart syndrome, but also one of the worst anatomic subtypes. Out of the four valves of the heart, she had two completely closed and non-functional and one with significant leakage. In addition, her ascending aorta and aortic arch were very small (only 2 millimeters at most) which significantly complicated the surgery.”

Dr. Victor Bautista-Hernandez performed surgery on Maddy’s heart when she was less than a week old.

“Despite the challenges, Joanna and James wanted their daughter to undergo surgery with our team at Children’s Hospital of San Antonio/Baylor College of Medicine and that determination remained over time,” the surgeon added.   

“The day of the surgery is what everybody looks at, but you need a talented team of health professionals to get one of these patients through,” said Dr. Bautista-Hernandez. “The excellent care provided by our MFM, pediatric cardiology, ICU teams and all others led to a well-preserved newborn going to the OR in excellent condition and having a speedy and uneventful recovery.” 

“There were hundreds, if not thousands of people praying for Maddy,” said Joanna.  

Maddy’s procedure lasted between six and eight hours. Too anxious and worried to sit still in a waiting room, Joanna and her husband sat in their car until the surgery was over. 

Maddy made it through surgery, and Joanna vividly remembers how she reacted when she saw her daughter with an open chest and her heart beating. “I just broke down and cried so hard. It was one of the hardest moments of my life,” Joanna said.  When performing heart surgery on a newborn, the heart swells. The incision is left open for a few days to allow the swelling to go down so the heart fits back into the chest.

She recollects how Maddy’s skin was cold to the touch because her chest was open and how scary some of those moments were. Joanna would sit at Maddy’s bedside and pray the rosary every day. After the cardiovascular surgeon stitched Maddy’s chest closed, Joanna was able to breathe a sigh of relief. She remembers going to see Maddy and holding her hand. As Joanna started talking to her newborn daughter, Maddy looked up and stared into her mother’s eyes.  

“At that moment, I knew it was going to be OK. She is here. She knows me. I know her. I finally felt like her mother and not a spectator on the sidelines,” said Joanna.

Maddy peeks out of her crib as her mom Joanna gets her ready to leave the NICU.

Plans were in motion to get Maddy home. Then, around Christmas, Maddy’s cardiology team suspected a narrowing of her aortic arch, so Maddy underwent a catheterization to gather more data about her heart – information an echocardiogram would not necessarily reveal. Fortunately, her surgery looked great and the arch was intact, so she did not need a balloon or stent. It was welcome news.

On February 11 after spending 85 days in the NICU, Maddy was released home to be reunited with her two older sisters. She will need to be seen at least once a week and then back again in four months for another surgery.

After 85 days in the NICU, Maddy’s doctors gathered to say good-bye as she headed home with her family.

She has been doing well and has experienced only minor issues like acid reflux, arrhythmias, and is fussy about eating, but otherwise, she is progressing well. Doctors are hoping the G-tube they inserted will help with that, and Maddy will soon be on her way to a full recovery.  

Through it all, Joanna’s faith, while shaken, helped to see her and her family through. She said she is grateful to the team at The Children’s Hospital of San Antonio for all their support.

Maddy’s big sisters were excited to celebrate outside The Children’s Hospital on the day Maddy graduated from the NICU and went home.

“Maddy is a symbol of God’s faithfulness and will forever be my rock,” said Joanna. “God’s will has been manifested throughout our entire journey, and I know without a doubt, it will continue to unfold throughout Maddy’s life.”

To learn more about the Heart Center at The Children’s Hospital of San Antonio, visit the Heart Center online.

A Parent’s Guide to Understanding Autism: April is Autism Acceptance Month

Andrew Martinez, PhD, Clinical Director, Autism Program, Psychology Department

What is Autism Spectrum Disorder (ASD)? ASD is a lifelong neurodevelopmental disorder where individuals have social and behavior difficulties. The first (and main) symptom is trouble with social skills. Social skills do not come as natural to individuals with ASD as they do for those without ASD. Social difficulties are different in everyone, but these are some common symptoms:

• Poor/avoidant eye contact
• Limited or unusual gestures
• Trouble using nonverbal language (e.g., eye contact, gestures) to communicate
• Trouble reading emotions, feelings, and/or facial expressions
• Trouble making and keeping friends
• Not understanding social relationships (e.g., marriage, friendships, etc.)
• Not interested in socializing with others
• Trouble having a shared conversation

Also, individuals with ASD frequently have restricted and repetitive behaviors. These behaviors are different for everyone, but these are some common symptoms:

• Hand flapping
• Full body rocking
• Other unusual repetitive motor movements
• Repeating someone else’s speech (called echolalia)
• Repeating scripts or specific statements they have heard (called delayed echolalia)
• Trouble adjusting to changes with routine
• Having specific routines or habits that must always be done a certain way
• Lining up or organizing things
• Obsessed with specific topics or interests where they know “everything” about it
• Interested in unusual topics or interests compared to others their age
• Sensory sensitivities – loud noises, clothing, food textures, specific textures, grooming, etc.

It is important to note that just because someone has social problems and repetitive behavior, they do not necessarily have an ASD. Many other disorders have similar or overlapping behaviors (e.g., ADHD, intellectual disability, anxiety, mood disorder, schizophrenia spectrum disorders, etc.).

What are some early behaviors/risk factors I should look out for? Risk factors vary depending on age, but here are some risk factors for infants and toddlers:

• Does not smile back at you when you smile at them (called social smiling)
• Does not respond to their name
• Has trouble making requests
• Avoidant or poor eye contact
• Seems to be “in their own world” most of the time
• Is not interested in interacting with you or in social games (e.g., peek a boo)
• Does not share their interests with you
• Unusual motor, verbal, or sensory behavior
• Unusual or repetitive play

In addition, two other risk factors are having a sibling or another immediate family member with ASD and having a specific medical condition associated with ASD.

Dr. Andrew Martinez, the author of this blog, evaluates a child for autism. Dr. Martinez recommends parents first check with their child’s pediatrician before considering a visit to the Autism Clinic.

If my child is showing symptoms of ASD, what should I do? The first thing you should do is talk to your pediatrician. It is very important to be open with them and share your concerns. They are very good at knowing what is typical development versus delays or concerns. They may have you fill out some questionnaires to help them see if there are enough symptoms to warrant further workup. If they notice concerns or are unsure, they will refer you to a specialist. Referrals will more than likely be sent to one of the following specialists: psychologist, neuropsychologist, developmental pediatrician, neurologist, or neurodevelopmental pediatrician. At The Children’s Hospital of San Antonio (CHofSA), these referrals will be sent to either Dr. Andrew Martinez, Dr. Melissa Svoboda, or Dr. Veronica Villarreal.

Dr. Melissa Svoboda is the section chief of neurology at The Children’s Hospital of San Antonio. Dr. Svoboda has extensive experience and knowledge in the evaluation and diagnosis of autism in children.

In addition, your pediatrician might also refer for therapies while you wait for a specialists’ appointment (if it is needed). These therapies often include speech therapy (ST), occupational therapy (OT), or physical therapy (PT). They may also refer to Early Childhood Intervention (ECI) if they are under 3 years old. If your child is older than 3 years old, they may encourage you to request an evaluation through your local school district.

What does an ASD evaluation look like? Evaluations vary depending on who is completing it, but most ASD evaluations include a detailed parent interview and standardized testing. Interviews are used to gather details about the current ASD-like symptoms, when they started, and how frequent or severe they are. The interview is also used to gather information about the family, the gestational history, the child’s development, any other medical or psychiatric problems, and what services or therapies they have received. Standardized testing is used to see how well a child functions compared to other children their age. Testing often includes intelligence (i.e., IQ), language, motor, sensory, and autism specific tests. It is very important to note that tests are used to gather data. There is not one specific test used or that can diagnose ASD alone.

Nurse Practitioner Katherine Holt conducts an interview with a parent whose child is undergoing an autism evaluation.

At CHofSA, an autism evaluation begins with a clinician interviewing a caregiver and then observing and interacting with the child. The next steps will be determined by results from the initial appointment. For some children where the doctor can tell during that appointment they have an ASD, they will be diagnosed with ASD and referred for treatment. If the doctor is not sure, they will be recommended for further testing. Testing might be with only the same doctor or might be with our multidisciplinary autism team. If the doctor is sure the child does not have an ASD, they will speak with you about treatment (if it is warranted). Regardless of the diagnosis, we will make sure to discuss your child’s strengths and weaknesses and come up with a plan to help them.

What happens after an ASD diagnosis is made? This varies depending on where and who is evaluating your child. At CHofSA, we will discuss the results and treatment plan with you. Treatment options will depend on the child’s specific difficulties, but Applied Behavior Analysis (ABA) therapy is often recommended. ABA is a therapy that focuses on increasing positive or helpful behaviors and decreasing negative or unhelpful behaviors. ABA therapy can be used to work on social skills, language, inappropriate and harmful behaviors, and many other skills. In addition, ST and OT are often recommended, as many children with ASD have trouble with speech, language, motor, sensory, and adaptive skills.

In addition, we will also discuss what medical work up is needed to find the cause of ASD (also called etiology). This often includes a genetic evaluation and possibly a neurological work up. Also, there are currently no medications or other medical treatments approved for ASD. There is no cure for ASD. Some children with ASD take medication or have other medical treatments, but these are due to other factors and NOT ASD alone. There are several alternative therapies that are available; however, there is very little or no data to prove these work or help. Most of these therapies are expensive (cash pay only as insurance will not cover them) or can be dangerous for children. For this reason, we strongly recommend you speak with your pediatrician or autism specialist about any alternative treatments you are considering. Just like you, we want to keep your child safe.

Lastly, ASD is a lifelong disorder. Individuals with ASD symptoms will fluctuate over the years. Thus, it is important to connect you with community resources and develop a strong support system. At The Children’s Hospital of San Antonio, we will connect you with local and statewide resources. We will follow up with you as needed, and we will always be here to answer any questions or concerns that may come up.

If you are concerned about your child’s development, talk to your pediatrician first. If you need a primary care physician for your child, visit our website to find a pediatrician near you.

Recognizing Black Maternal Health Week

According to the Centers for Disease Control and Prevention, approximately 700 women die each year in the United States because of pregnancy or delivery complications. In 2020, Black women were by far the most disproportionately affected with a mortality rate of 55.3 deaths per 100,000 live births, compared to 19.1 deaths per 100,000 live births, and 18.2 deaths per 100,000 live births for White and Hispanic women, respectively.

Black women in the U.S. are more likely to die from pregnancy related complications. The team at The Children’s Hospital of San Antonio trains other medical teams around the state to help them be prepared for emergencies during labor and delivery.

We hope you will join us as we celebrate the fifth anniversary of Black Maternal Health Week and the movement to change the state of black maternal health. Founded and led by the Black Mamas Matter Alliance is an exciting week of activism, awareness, and community-building.

At The Children’s Hospital of San Antonio (CHofSA), we emphasize innovative programs to make sure our Black patients have a safe and healthy pregnancy, delivery and postpartum recovery. It starts with education and the team at CHofSA is taking the lead to train hospitals across Texas through hands-on simulation programs where our physicians, nurses and the entire care team can practice for critical obstetric emergencies together on their own labor and delivery units. In collaboration with the Texas Alliance for Innovation on Maternal Health (AIM) initiative we have helped to train hospitals across all of Texas on how to run simulation drills on their units. 

These learning sessions pair the multi-disciplinary improvement teams from each participating hospital and expert faculty to exchange ideas about challenges facing our black mothers. The learning sessions include time for each hospital’s team to work together to integrate learning and plan for how to immediately incorporate simulation into their improvement processes.

Currently, 98% of the medical staff at CHofSA and 100% of the nursing staff have participated in both a post-partum hemorrhage and a hypertension emergency simulation. This has greatly decreased the team’s reaction time and increased the team’s performance in responding to these emergencies. Through conducting debriefs after actual events, the staff works to continuously improve and decrease the number of severe morbidity and mortality events.

To learn more about how the simulation program is improving maternal outcomes for our moms, please see: https://www.aha.org/system/files/media/file/2022/03/members-in-action-childrens-hospital-of-san-antonio-case-study.pdf

A Story of Faith, Hope and Survival

Last August, Cynthia and Isaac Torres from Eagle Pass, Texas, were excited when they found out they were expecting another baby. The couple has a 13-year-old son, but they always wanted to have more children. After several miscarriages, they were unsure if another baby was possible. As they clung to their faith, God doubled their blessings in ways they never imagined.

“Early in my pregnancy, my ultrasounds showed I was carrying one baby,” said Cynthia. “When I was 13 weeks pregnant, I had another ultrasound, and I will never forget that day. Just like any other prenatal appointment, I went in for an anatomy scan to see how my baby was developing and I remember the technician telling me, ‘I see two babies. You are pregnant with twins.’ My immediate reaction was, ‘Are you serious?’ When she turned the monitor towards me, sure enough, I saw two tiny hearts beating in unison. My husband and I were beyond excited.”

Cynthia began seeing two OB-GYN specialists – Dr. Carlos Hernandez in Eagle Pass and Dr. James Hill, her high-risk maternal fetal medicine physician at The Children’s Hospital of San Antonio. Since Cynthia was pregnant with twins and she had a previous history of miscarriages, she and her babies were monitored closely. Cynthia had to take daily injections of Enoxaparin, a blood-thinning medication to prevent recurrent miscarriages. She gave herself these injections throughout her entire pregnancy. During her first and second trimesters, her pregnancy was going smoothly, and the babies were developing normally.

When Cynthia was 31-weeks pregnant, she went on a family vacation to Mazatlan, Mexico, with her husband, their 13-year-old son, and her mother in December 2021. They enjoyed the beach and wanted to have one last family vacation before the babies were due on March 1, 2022. After spending nearly a week in Mexico, the unexpected happened on the last day of their vacation.

“My family was packing our luggage since we were heading home the next day,” said Cynthia. “I was laying on the couch in our hotel room, and I remember screaming. My mom asked me what was wrong. I told her I didn’t know. I just got this bad pain. And when I got up, my water broke. Since I was considered high risk, I went to the hospital which was a short drive from our hotel. I was hoping that I could still make it back home the next day, but that wasn’t the case. When I arrived in the ER at Mazatlan, I had an ultrasound to see if my babies were OK. Then, the gynecologist who examined me performed another ultrasound. He told me there was not enough amniotic fluid in the sac, and it was dangerous for the babies to remain in my womb.”

On January 2, 2022, Cynthia and Isaac welcomed their fraternal twins – Isaac and Israel – who were delivered via emergency cesarean section in Mexico. They were born at 31 weeks and weighed just three pounds each. Isaac was born first, and was smaller than his younger brother, Israel. Soon after their births, Isaac and Israel were sent to the neonatal intensive care unit where they were monitored.

“It was a big sigh of relief when I heard my babies cry for the first time,” said Cynthia. “As much as I wanted to hold them closely, I couldn’t because I tested positive for COVID-19. This was my second time having COVID, but in both cases, I had mild symptoms. I was quarantined at the hospital and nobody in my family could see me. I remember crying and feeling so alone. I had my cell phone with me so my husband could text me pictures of Israel and Isaac in the NICU.”

Since the twins were born premature, Israel and Isaac were having trouble breathing. They were both hooked up to oxygen, but Israel’s lung condition seemed to be getting worse. The NICU doctors in Mazatlan told the Torres’ that it would be best for Israel and Isaac to be transferred to The Children’s Hospital of San Antonio since they have a Level IV NICU that provides the highest level of care for premature and critically ill newborns. Once the babies arrived, they would be placed under the care of Dr. Maria Pierce, a perinatal-neonatal medicine physician and medical director of the hospital’s NICU.

A transport team loads the Torres twins onto an airplane in Mazatlan, Mexico, to bring the twins to The Children’s Hospital of San Antonio’s Level IV NICU.

“Dr. Pierce was an angel sent from above,” said Cynthia. “My husband called her from Mexico, and she told us there was space for our boys in the NICU. As nervous as we were, my husband got the paperwork completed for the air transport of our twins. He accompanied our sons on the two-hour airplane ride to San Antonio. They arrived at Children’s Hospital on January 5 at 2:00 a.m. Dr. Pierce and the rest of the team were already waiting for Israel and Isaac to get to the NICU.”

When the babies arrived at Children’s, they both needed oxygen. Israel, the weaker twin,went into cardiac arrest as they arrived to the NICU. The NICU team performed CPR on Israel, and they were able to resuscitate him within minutes. Both babies were stable, but they were not out of the woods. Dr. Pierce and the NICU nurses monitored them closely and updated the family on their progress.

Isaac Torres flew with the twins to San Antonio and stayed with them during their first two weeks in the NICU while his wife recovered from COVID.

“Dr. Pierce called me in Mexico to let me know how my twins were doing,” said Cynthia. “I spent two nights in the hospital in Mexico before I could go back to Texas. My son, mom and I made the 12-hour drive to Eagle Pass. It was a long ride for me as I was still recovering from my C-section. Since I had COVID and had to be quarantined at home, my husband stayed with our twins for the first 10 days in the NICU. When I finally held Isaac and Israel for the first time, I cried. It was a beautiful thing to be reunited with my sons. It was the best feeling in the world.”

Cynthia cried tears of joy when she was finally able to hold her babies for the first time since they were born.

While in the NICU, Israel and Isaac were monitored and tested daily. They underwent many different screening tests including MRIs on their brains and lungs to make sure everything was functioning normally. Although they had low iron levels, which is not uncommon in premature babies, they were given vitamins twice a day. While they had feeding tubes, they were receiving bottle feeds as well, and they gained weight in the NICU. Isaac and Israel were getting stronger day by day and were able to breathe on their own. Once they were completely stable, they were ready to go home on February 12, 2022, after spending a month and a half in the NICU.

Isaac and Israel spent six weeks in the NICU at The Children’s Hospital of San Antonio. Their parents are happy to be back home in Eagle Pass now where the twins are thriving and mom enjoys dressing them up in matching outfits!

“Our 2-month-old sons are doing amazingly well,” said Cynthia. “Their little personalities are beginning to show. While Isaac loves to command attention – he thinks he’s the center of the world – his younger brother Israel loves to be held all the time. He is more patient than his older brother. As I look at our sons today, I can’t help but think about their journey of survival, and the amazing doctors and nurses in the NICU who took great care of them. Dr. Pierce and the NICU nurses were amazing. They answered all of our questions and concerns, and they were always there to comfort and support us especially during those unstable moments when I wasn’t sure what the outcome would be. There were a lot of ups and downs on our journey, but our family and faith kept us strong. I’d go to the chapel at the hospital and pray for our boys every day. I can’t wait to tell my boys the story about their birth when they get older. It was a wild ride – but in the end, I am grateful God blessed us with these two miracle babies that we love so much.”

The Children’s Hospital of San Antonio provides the highest level of specialized care for premature and critically ill infants. Click here to learn more about our Level IV NICU.

In Rare Form

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.

Thanks to a new treatment, Abigail no longer has a restricted diet due to a rare condition known as PKU.

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.

As Miss Reina Latina San Antonio Teen 2021, Abigail shares her story about living with a rare disease and encourages others to learn more.

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.

Seven Reasons to Take Your Child to the ER

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.

At The Children’s Hospital of San Antonio, we know children are not little adults. They require the expert care of doctors and nurses specially trained in emergency pediatric medicine. Taking a wagon ride to get an X-ray is just one way we ease a child’s fears!

Here are some examples of major and minor instances when you should go directly to your nearest pediatric emergency room:

1. 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.
2. 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.
3. 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.
4. 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.
5. 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.
6. 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.
7. 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.

The Children’s Hospital of San Antonio Emergency Center – Stone Oak is open and ready to help in any emergency medical situation.

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.