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

April is austism awareness month. At The Children’s Hospital of San Antonio we have a multidisciplinary team devoted to the the evaluation and diagnosis of autism in children. Read our blog to learn what every parent should know about autism.

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.

Holding on to Hope: A High-Risk Pregnancy Journey

In June of 2020, Lauren found out she was pregnant again. What would have seemed like a joyous occasion brought a lot of fear to Lauren since just a few months earlier she had lost a baby at 11 weeks. This time she was hopeful, but told herself she was not going to get attached. Just in case. This pregnancy would take Lauren on lots of twists and turns and several ups and downs, but in the end, she would learn a lot about her own health, how strong she is and how choosing the right doctor can make all the difference.

During Lauren’s first trimester, she was very careful not to let the news about her pregnancy slip to anyone except her mom and her husband. Lauren put her focus on Andi and Cody, her two other children, ages 4 and 2 ½ who were keeping her busy these days.

At 11 weeks, the same week she lost her previous baby, Lauren was attending her first regular appointment with her obstetrician when her doctor noticed some things going on with her health and had some lab work drawn. This lab work brought more answers than Lauren would have ever expected. It was at this time when Lauren learned her thyroid was not functioning properly due to Graves’ disease. This is what likely caused her to lose her baby in the previous pregnancy.  And, the bad news did not stop there. Lauren was also told there was a high probability this baby may have a rare genetic disorder.

“This couldn’t be happening again,” explains Lauren. “My husband and I were already contemplating hard decisions we might need to make in the next few weeks. But we weren’t ready to give up.”

Lauren was immediately sent to Dr. James Hill, a high-risk maternal fetal medicine specialist at the Center for Maternal and Fetal Care – Westover Hills, which is a program of The Children’s Hospital of San Antonio. Lauren would have frequent labs drawn and doctor visits. “My heart rate would increase significantly, and he monitored my heart medications closely. He also noticed I needed to be put on thyroid medicine,” Lauren explains. “The medicines really helped me to feel better. He wanted to make sure I was being treated. His concern about my health and my baby’s well-being made me feel so cared for, and the fact that Dr. Hill immediately jumped on it was so comforting to me.”

Dr. James Hill is a maternal fetal medicine specialist at The Children’s Hospital of San Antonio. Lauren was amazed by the genuine care he provided to her and her baby.

Because of Graves’ disease and the possibility that her baby could have Graves’ and another rare genetic disorder, Dr. Hill referred Lauren to Rachel Ault, a genetic counselor at The Children’s Hospital of San Antonio. Rachel walked Lauren through all the possibilities and recommended an amniocentesis that would be performed when Lauren was 16 weeks pregnant to test for fetal abnormalities. She gave Lauren a lot of information about what to expect and reminded her that she should not blame herself for what was going on.

“At this point, everything felt like a whirlwind. I was so scared and having to wait for the amnio procedure and then for the results was excruciating,” adds Lauren. “Dr. Hill was amazing during this time. He prayed over me and prayed over the baby. He calmed me and told me to have hope. I have never had a doctor that was so invested in me. I knew I could put my faith in him, and he would take good care of me and the baby.”

On August 24, Lauren nervously walked into her amnio procedure. Dr. Hill and another doctor performed the procedure.  Lauren remembers how the baby’s head was near the needle and remembers Dr. Hill telling her that the baby looked good on the ultrasound. A glimmer of hope Lauren thought. During this procedure Dr. Hill identified that Lauren had an anterior placenta which made an extra layer that the needle would need to push through before getting into the amniotic sac. For Lauren, this meant that there was an even higher increase of miscarriage and that the cushioning may make it more difficult to feel her baby kicking. Dr. Hill assured her he was confident that he could safely perform the amnio procedure – and he did.

Now the dreaded waiting period began. Lauren would have to wait two to three weeks for the results of the amnio. These would be the longest weeks of Lauren’s life.

“Every night I cried waiting for the results,” remembers Lauren. “While I was waiting, I was calling around getting quotes for a funeral and at the same time doing lots of research on raising a special needs child, if the child would survive.” Lauren’s husband, Bobby, would remind her every day to hold onto hope, not to give up and have faith. He was her biggest supporter during this tough time for their family.

Lauren had still not told anyone about her pregnancy and had been going through all of this alone, but she decided to share the news that she was pregnant with a few of her mom friends at FIT4MOM Alamo Ranch/Helotes, a fitness business geared toward moms which she owns. She knew she needed all the support she could get right now and what better place than with the women who were part of her community.

Lauren will never forget when the call finally came in. It was a Friday at 4 p.m. and she was 19 weeks pregnant.

“I answered the phone and it was the genetic counselor, Rachel. I heard her say, ‘Your baby is healthy!’ She doesn’t have the rare genetic condition,” remembers Lauren. “I fell to the ground and held my stomach. For the first time, instead of feeling completely detached from this baby, I felt like I would actually be able to hold and kiss my precious baby’s head. You go from planning a funeral for your baby to then hearing the best news ever that you get to hold your baby.”

Rachel Ault is a genetics counselor at The Children’s Hospital of San Antonio. She gave Lauren the good news about her baby’s genetic testing results.

It turns out Lauren’s placenta was the carrier of the genetic disorder which happens in two percent of pregnancies. Lauren’s baby had a 95 percent chance of having the condition. Lauren was now looking at what she explains was a miracle baby and one she would name Kacey Hope to represent the hope she was reminded to hold onto throughout this scary process.

For the first time in months, Lauren was able to breathe. She finally announced she was pregnant to her family and did a gender reveal two weeks later with her FIT4MOM group. Her kids, Andi and Cody, were beyond excited to learn they would be having a baby sister.

During this time, she would see Dr. Hill every two weeks to get tested for her thyroid and as Lauren approached her third trimester, she was seeing Dr. Hill weekly. “I still had a hard time accepting that everything was alright. I was so worried this baby was somehow going to be taken from me. Dr. Hill would remind me often to have hope and reminded me to enjoy my pregnancy,” said Lauren. “The ultrasound technicians would also reassure me during my appointments that the baby was growing well, and not showing signs of any disorders.” Her measurements looked great, but the best thing Lauren appreciated during the appointments was getting to hear her daughter’s heart beating.

Thankfully, Lauren’s third trimester was not as eventful as the second trimester and she started getting more comfortable with the pregnancy and the fact that this baby would arrive safely. Lauren almost made it to her due date but ended up delivering Kacey on February 3, four days before her due date.

“On delivery day the baby came fast and there was no time for an epidural. I was used to very long labors, but she had her own agenda. She wanted to enter this world quickly and the nurse and my husband almost had to deliver her. Luckily, the doctor on-call arrived just in time. The first moment I looked at her I could not believe she was really here. I heard her cry and I felt this sigh of relief. After all the trouble we went through and her five percent chance of being here, it was truly a miracle to see her and touch her. It was almost as if everything that happened, never happened.”

Looking back at her pregnancy journey, Lauren is grateful for the dedicated care Dr. Hill provided and how closely he watched over her. From the diagnosis of Grave’s disease to monitoring her heart condition to identifying she had placental lakes, a rare condition where the placenta has pools of blood on it, Dr. Hill was monitoring Lauren closely.  “These are conditions that can easily be missed which is why I am grateful I found such a competent high-risk doctor to not only take care of my baby but to focus on my health as well,” said Lauren.

“Every week I would come and see the team at The Children’s Hospital for my appointments. It became a very familiar and comfortable environment,” remembers Lauren. “I have never had that much interaction with a medical team who seemed to really care about me, and this was something I truly cherished. I do not have the right words to thank them for their care. Now that Kacey is here, it sounds crazy, but I actually miss seeing them.”

Kacey is now a happy 2-month-old baby and Lauren is enjoying every second with her. What started out as one of the scariest times in her life ended with such a beautiful miracle and Lauren is happy she was able to find the right time to tell her story. Her hope is that her story will help other moms advocate for their own health and find the right doctor to care for them along their own pregnancy journey, like Dr. Hill did for her.

If you experience any complications during your pregnancy, please talk to your doctor about a referral to the Centers for Maternal and Fetal Care. We offer three convenient locations with a team of compassionate and experienced physicians. Visit our website for more information at The Children’s Hospital of San Antonio Centers for Maternal Fetal Care.

April 16: Wolf-Hirschhorn Syndrome Awareness Day

Candice Chapman, Amazing Mother and Fierce Advocate

Wolf-Hirschhorn syndrome. Something we had never heard about before May 2015.  It’s a phone call I will never forget receiving. I remember sitting on our living room floor and playing with Hadley, who was 10 months old at the time, when my phone rang. It was our amazing genetics counselor, Kimberly Nugent, calling from The Children’s Hospital of San Antonio. She informed me they had received Hadley’s genetic testing results and told me her diagnosis.

Genetic testing showed that Hadley’s had a “small deletion” – meaning a small sequence of DNA was missing. Although Hadley would have delays in reaching her milestones, Kimberly said my daughter would be able to develop, it might just take her a little bit longer.  I couldn’t hold back the tears and she could hear the fear in my voice.  The fear of the unknown.  She told me not to research anything that we would go over the results at our appointment. Of course, the first thing I did when we hung up was research it!  What I found made me cry even more, I sat there holding this beautiful child of ours, worried about what her future would be like.

After meeting with Kimberly and Dr. Scott McLean, a clinical geneticist at The Children’s Hospital,we had a game plan and got to work doing what we could to make sure Hadley received all the services she needed.  We have been blessed to have such an amazing and caring medical team from the beginning.  When you have a child with a rare syndrome like Wolf-Hirschhorn syndrome it is hard to find doctors that will see her because they aren’t familiar with the syndrome.  We have learned that we have to educate some of the doctors we see and that is completely fine with us, that’s even something we were told in the beginning.

Watching Hadley’s determination to meet milestones is amazing. She doesn’t give up and pushes hard to accomplish anything she sets her mind to.  She continues to prove doctors wrong by doing something they didn’t think she’d ever be able to do.  She is small in size, but she is so strong.

Having a child with a rare genetic condition has been anxiety provoking at time. Seeing Hadley in the hospital because of seizures or learning of another diagnosis that may or may not be related to Wolf-Hirschhorn syndrome is scary, but the good times have definitely outweighed the bad.  We have learned to take each day as it comes, enjoy all the small things, not to take anything for granted and to know that she will do anything she sets her mind to.  Hadley is so inspirational to so many people and we are so blessed to be her parents and to learn from her. 

With any diagnosis you get for your child, there is always that moment of the fear of the unknown, but just know that there is always someone, somewhere that you can reach out to.  We found an amazing support group on Facebook and have been fortunate to grow very close to many of the families.  It may feel like you are alone at times, but remember you never are alone.

If you believe you or your child may have a genetic condition, ask your doctor for a referral to the Genetics Clinic at The Children’s Hospital of San Antonio. Testing and counseling services are available for both adults and children. Genetic counselors, like Kimberly, help families find answers and identify the resources they may need in terms of support and medical treatment.

A Family’s Reflection on World Down Syndrome Day

Candice Chapman, Parent of a Down syndrome child

Down syndrome. Two words I honestly never thought would be part of our family, but let me tell you something, I can’t imagine our life any other way now.  Having a child with Down syndrome or any disability can and does bring about a mix of emotions.  You get the diagnosis and you try to process it, you are upset, you mourn the future you had envisioned, but then you feel the unbelievable love that your child has for you, it’s a love that is so big that it’s hard to describe.

For some reason people feel the need to apologize when they hear we have a child with Down syndrome, but they don’t understand what a beautiful life it really is.  I always tell people that there is nothing to be sorry about.  I honestly wouldn’t trade this life for anything.

Our lives are filled with doctor and therapy appointments, but watching your child work so hard on meeting milestones, seeing the determination to achieve them and excitement on their beautiful little faces when they do is one of the most amazing feelings in the world and is worth every minute that is spent at an appointment. 

Every day is an adventure and is mostly filled with laughter and smiles.  On tough days, I know that my child is there with their unconditional love, contagious laugh and beautiful smile to brighten my day. 

Having a child with Down syndrome has taught us so much more about life than I ever could have imagined.  It has taught us to appreciate the small things, not to take things for granted, to stop and smell the roses more.  You realize that your child teaches you so much more about life than you could ever teach them.  They teach you about kindness, love and acceptance.

Now, don’t get me wrong, it’s not all rainbows and sunshine 24/7.  We still have hard days.  Days that we struggle and days that we just have a rough time.  Honestly, though, the good days do outweigh the bad.

So, my advice to any new parent that receives an unexpected diagnosis: give yourself a few minutes to be upset, but don’t stay in that moment.  Join a support groups, reach out to other parents, learn what you can and be your child’s biggest advocate.  Then know that soon you will experience a love beyond anything you ever imagined.  This love is unconditional and so pure.  It will make you forget that you were ever upset in the beginning. 

Since 2006, March 21 is recognized as World Down Syndrome Day. The 21st day of March signifies the genetic condition caused by an extra copy (three instead of two) of the 21st chromosome.

At The Children’s Hospital of San Antonio, we have the largest team of physicians and genetic counselors in the region. We work with families to help identify genetic conditions in both adults and children of all ages and help them find the resources they need to reach their full potential. If you are interested in genetic services, please visit our website www.chofsa.org/genetics.

Jaxson’s Journey

By Christine De La Rosa, Jaxson’s Mother

On February 7, 2016, my son Jaxson decided he would enter this world. It was Super Bowl Sunday. When he was born the doctors and nurses asked me, “Did you know he was only four pounds?” I was in shock and had no idea he was so little.  

The doctor and nurses were talking while they examined him and told me they were going to take him to the NICU. His oxygen level was low. They also told me about his bilateral microtia which means both ears did not form on the outside and that he had a soft cleft palate. I don’t remember how I felt at that moment because it was all too much to take in.

I asked my doctor how this happened because I had two screenings for abnormalities done while I was pregnant and the results were negative each time. The doctor seemed to be in shock and only answered, “I don’t know.”

After meeting several specialists, the genetics doctor told me my son might have a syndrome but that he could not be sure until a DNA test was performed. It was all so overwhelming at that point. He was diagnosed with failure to thrive. Jaxson had to be fed differently because of his soft cleft palate, which put him at high risk for aspirating. He had his first surgery at 5 months to repair the cleft palate.  He was slowly gaining weight.

In November 2016, Dr. Scott McLean with the Genetics Clinic at The Children’s Hospital of San Antonio gave me the diagnosis: Cornelia de Lange Syndrome (CdLS).  When I asked Dr. McLean what I needed to do, he reassured me that I was already doing everything I could. Leading up to the diagnosis, the clinic staff had already provided great support and information about resources available for Jaxson. He was receiving speech, physical and occupational therapies, and seeing several specialists.

In May 2017, he came down with pneumonia because of his aspiration. The doctors recommended placing a feeding tube directly into his stomach. He had the procedure in June. That was the best decision I made for my son. His weight, motor skills, and overall health improved significantly.

He currently does not talk because of the microtia, but thanks to the hospital’s recommendations and resources, we became enrolled in the parent and infant program at the Sunshine Cottage when he was 3 months old.  He received a Bone-Anchored Hearing Aid or BAHA, since he is too young for a cochlear implant. When he turned 3, he was enrolled at the Preschool Program for Children with Disabilities at a San Antonio Independent School District elementary school. He will have future surgeries to reconstruct his ears and get cochlear implants when he is about 7 or 8 years old.

As a single mom, I often feel overwhelmed. I have a full-time job and an 11-year-old daughter. On my days off, I am usually taking Jaxson to an appointment. People ask me how I do it all and my response is, “I have to. It just comes to me.”  I have lot of support from my family.

Everything happens for a reason and God gave me Jaxson because he knew I was capable of handling his diagnosis.  He opened my eyes and my love for Jaxson is like no other.  His personality and character is so unique I am grateful every day that he is my son. 

I am on a CdLS Foundation group on Facebook, so I can say some moms have more on their shoulders then I do because this syndrome can be fatal.  Jaxson’s organs are all in good standing so I am beyond grateful and blessed that my son is healthy.

May is Cystic Fibrosis Awareness Month

Jeremy W. Stewart, M.D., Resident, PGY-2, Baylor College of Medicine

Martha Morse, M.D., pulmonologist, The Children’s Hospital of San Antonio; Associate Professor, Baylor College of Medicine

Cystic fibrosis (CF) is a genetic disease that affects many organ systems of the body. According to the Cystic Fibrosis Foundation Patient Registry, 1,000 new people are diagnosed each year and a total of 30,000 people in the U.S. are living with CF.

CF is caused by different mutations in a gene (CFTR) that makes a protein that helps move electrolytes (chloride and sodium) in and out of our body’s cells. When this process is not working correctly, the body produces thick and viscous secretions in the lungs, digestive tract, pancreas, and reproductive organs.

The disease is present when the person has two defective copies of the CFTR gene. A person can be a “carrier” of the defective CF gene, which means they have a defective gene but no disease. If two carriers have a child together:

  • One in four children will have CF
  • One in two children will be a carrier and not have CF
  • One in four children will not be a carrier or have CF

Symptoms of CF include:

  • Persistent productive cough
  • Salty-tasting skin
  • Lung infections
  • Difficulty breathing or wheezing
  • Growth problems
  • Difficulty with bowel movements, often with greasy, bulky stools
  • Infertility in males

People with CF require daily routines of lung treatments, digestive enzymes with every meal, vitamins, and regular monitoring to avoid becoming sick, as they are at a high risk of becoming very sick. CF requires a full health care team that includes multiple subspecialties and frequent appointments. In the past, people with CF lived short and troubled lives with frequent hospitalizations and early death.

Currently, all 50 states test newborns for CF. The Texas Newborn Screen began testing for CF in 2008. If the test is abnormal on the first or second newborn screen, a sweat test can confirm the diagnosis.

While CF remains a serious disease, recent advancements in medicine have provided promise for many. CFTR Modulator Therapy helps the protein transport chloride. The medication works for people with specific mutations, as different mutations cause different protein defects. There are currently three CFTR modulators for people with certain CFTR mutations: tezacaftor/ivactor (Symdeko), Ivacaftor (Kalydeco), and Lumacaftor/ivacaftor (Orkambi). A video of how Ivacaftor works, can be found here.

Currently, no cure exists for CF so the scientific community is continually developing new drugs and therapies to lessen its effect on the day-to-day lives of people with CF.

How do I get involved and help?
To find out more about local efforts to raise awareness about cystic fibrosis, visit www.cff.org/lonestar

The Children’s Hospital of San Antonio has a team of specialists who work to diagnose and provide treatments to children, adolescents and teens with cystic fibrosis. To find a pediatric pulmonologist, visit www.chofsa.org/findadoc.

March is National Trisomy Awareness Month

It is important for parents and physicians to know which chromosome or piece of chromosome is extra. Knowing the correct result will help with providing information on occurrence or recurrence, education about inheritance,  and information on medical management and research opportunities.

Rebecca Okashah Littlejohn, MS, CGC
Certified Genetic Counselor
The Children’s Hospital of San Antonio

According to the March of Dimes, about one in 150 babies is born with a chromosome condition.¹ Chromosomes are structures in each of our cells made of tightly coiled DNA. Portions of DNA are called genes. Genes provide the specific instructions that tell our bodies how to grow and develop. Most people have 23 pairs of chromosomes in most of all of their cells for a total 46 chromosomes.

Trisomy Graphic

Some individuals have three copies of an entire extra chromosome (i.e. full trisomy) or part of an extra chromosome (i.e. partial trisomy or duplication). The “tri” in trisomy means three and “somy” in trisomy means chromosome. An extra chromosome or part of an extra chromosome can occur in some cells or all cells.

Having a partial or extra chromosome can cause variable health problems. A trisomy can occur with any chromosome, but the three most well-known trisomy conditions are Trisomy 21 (Down syndrome), Trisomy 18 (Edwards Syndrome), and Trisomy 13 (Patau syndrome).  We often find that individuals with the same or similar extra copy of chromosome may have similar health or developmental problems. For example, individuals with Trisomy 21 or Down syndrome usually have mild-to-moderate intellectual disability and developmental delay, heart abnormalities, hearing and vision problems, thyroid problems and a number of other problems. Individuals with Trisomy 21 may have some or all of these health problems.

There are also other conditions where individuals have a partial extra chromosome like partial trisomy of chromosome 16p11.2 (i.e. duplication of chromosome 16p11.2). Individuals with this condition often have a low weight, a small head size (microcephaly), and developmental delays, especially in speech and language. Affected individuals also have an increased risk of behavioral problems.6 Individuals with duplication of chromosome 16p11.2 may have some or all of these health problems.

It is important for parents and physicians to know which chromosome or piece of chromosome is extra. Knowing the correct result will help with providing information on occurrence or recurrence, education about inheritance,  and information on medical management and research opportunities. Families are also encouraged to find a support group. Support groups whether at the local, state, or national levels can offer resources on challenges that individuals with these conditions may face.

Please join The Children’s Hospital of San Antonio in supporting National Trisomy Awareness Month and celebrating all those individuals with trisomy.

The Genetics Clinic at The Children’s Hospital of San Antonio provides evaluation, diagnosis, genetic counseling, treatment, and management of pediatric and adult patients. Talk to your doctor about a referral to the Genetics Clinic.


  1. https://www.marchofdimes.org/baby/chromosomal-conditions.aspx
  2. https://chromodisorder.org/
  3. https://www.nichd.nih.gov/newsroom/resources/spotlight/031513-trisomy
  4. https://trisomy.org/
  5. https://www.rarechromo.org/
  6. https://ghr.nlm.nih.gov/condition/16p112-duplication



Kids and bleeding disorders

Patricia A. Clarke, MSN, APRN, CPNP, CPHON
Pediatric Nurse Practitioner, Hematology Oncology
The Children’s Hospital of San Antonio

March is National Bleeding Disorders Month

Our bodies are designed to stop the bleeding when we are cut or injured. The job of the blood is to carry oxygen to our brain and other tissues, so our blood needs to stay inside our bodies. Our blood has many substances to be able to form clots and stop the bleeding. When a person is missing some of these substances or the substances do not work correctly, bleeding can continue for too long. This is called a bleeding disorder.

How do I know if my child has a bleeding disorder?
Some families know their children have a bleeding disorder because it is inherited. Inherited means the disorder is present in other family members (perhaps parents, grandparents, sisters or brothers). Other families may not know their child has a bleeding disorder until the child bleeds for too long after a cut, an injury, surgery or even dental work. Children often fall and get bruises when they play outside, this is normal. Some children bruise a lot and bruises appear in unusual places, or the child can’t remember hurting themselves. Unusual, unexplained bruising might be a reason to suspect a bleeding disorder. Sometimes medications that a child may be taking can cause abnormal bleeding. Illness may cause easy bleeding, but this should go away after the child gets well.

Who can care for my child with a bleeding disorder?
Always report unusual bruising or bleeding (like nosebleeds that do not stop easily) to your child’s pediatrician. The pediatrician may order tests in their office to find reasons for the bleeding or bruising. The pediatrician might refer the child to a specially trained doctor called a pediatric hematologist. A pediatric hematologist knows how to take care of people with bleeding disorders. Sometimes medications can be given for bleeding disorders, and other times medications are not necessary.

What do I need to know to keep my child safe if he or she is diagnosed with a bleeding disorder?

  • Avoid giving your child certain medications (such as aspirin or ibuprofen) which can make bleeding more likely.
  • Certain activities such as rough contact sports may be restricted.
  • Enforce wearing of helmets when riding a bike and wearing seat belts while riding in the car.
  • Keep all follow-up appointments with the pediatrician and pediatric hematologist; take all medications as prescribed.
  • Inform the school nurse and teachers about your child’s condition and what to do in case of emergency, including administration of prescribed medications.
  • Let friends and playmates know what to do in case the child gets cut or injured.
  • All new doctors and dentists must be informed your child has a bleeding disorder, especially if the child needs surgery or major dental work.
  • Have your child wear a medical alert bracelet/necklace. These are inexpensive and available for purchase online. Medical alert bracelets/necklaces identify a child with a bleeding disorder to people who may not know the child.

If you need help finding a pediatrician or a physician who specializes in pediatric hematology, visit www.chofsa.org/findadoc.

Folic acid can prevent birth defects

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.


March 21 is World Down Syndrome Day

Blog provided by the Genetics Section at The Children’s Hospital of San Antonio:
Dr. Elizabeth Roeder
Dr. Scott McLean 
Rebecca Littlejohn, MS, CGC
Kimberly Nugent, MS, CGC

Did you know that one in 700 babies has Down syndrome, also called trisomy 21? This means about 6,000 babies with Down syndrome are born in the United States every year. Down syndrome is caused by having three copies of the 21st chromosome rather than two copies. That is why the date March 21 (3-21) was selected for World Down Syndrome Day.

World Down Syndrome Day (WDSD) was first observed in 2006 and has been officially recognized by the United Nations since 2012. When we celebrate WDSD, we raise global awareness about what Down syndrome is, we encourage our friends and relatives to recognize WSDS, and we support those who advocate for the rights, inclusion and well-being of people with Down syndrome. Anyone can be an advocate for a friend or family member with Down syndrome, and raising awareness and sharing correct information is one way to do this. Celebrating WDSD is a great way to recognize the uniqueness and value of every person with Down syndrome in communities all over the world.

The Children’s Hospital of San Antonio has many doctors, nurses, and associates who care for children with Down syndrome and their families. Please join The Children’s Hospital of San Antonio in recognizing this special day!

Check out these local, national, and global websites about Down syndrome:
· http://www.dsastx.org/
· https://www.ndss.org/
· https://worlddownsyndromeday.org/
· https://lejeunefoundation.org/

If you need a physician specializing in Down syndrome or other genetic conditions, please visit our website at www.chofsa.org/findadoc.