Down Syndrome Awareness Month: A Spotlight on Hurdles and Hope
By Jean Yaeger
The sunny personalities and determination of Sophie Worsham and Libby Sponsler shine through as the girls and their families deal with the physical challenges and developmental delays of Down syndrome.
Sophie, who is 15 months old, has low muscle tone due to Down syndrome and her premature birth. But she can play, babble, smile big and roll wherever she wants to go. Thanks to exercises and occupational therapy, Sophie is learning to sit up on her own.
Libby, who is 2½ years old, uses lots of words but receives speech therapy to improve her pronunciation. Occupational therapy helped her to start walking just before her second birthday. Libby is a doting big sister who loves to dance, snuggle and express her sassy charm.
Both girls had their diagnosis of Down syndrome confirmed through genetic testing at Cook Children’s. Both also underwent surgery as infants at Cook Children’s – Sophie for intestinal blockage and Libby for a heart defect. They come in for checkups as they grow and hit milestones.
October is Down Syndrome Awareness Month, and we at Cook Children’s want to share information about the condition, which happens very early in development when the embryo’s dividing cells have three copies of chromosome 21 instead of two. About 5,000 babies are born in the United States each year with Down syndrome, also called Trisomy 21. Characteristics vary but typically include distinctive facial features and some degree of developmental and cognitive delay.
Cook Children’s geneticist Alexandra Garza Flores, M.D. said people with Down syndrome can have frequent ear infections and hearing loss, obstructive sleep apnea and thyroid dysfunction. Because of their low muscle tone, many babies with Down syndrome need extra support in feeding. Heart defects are common, occurring in 40-50% of newborns with Down syndrome and representing one of the most serious medical problems in early life.
“With our current medical advances and proactive medical surveillance, people with Down syndrome have the potential for happy, healthy, productive and rewarding lives,” Dr. Garza Flores said. “Things will be challenging and different at times, but we will be with their family every step of the way to help keep their loved one healthy and to ensure that they have access to necessary resources.”
Dr. Garza Flores outlined the scope of Down syndrome services at the Cook Children’s genetics center, which includes geneticists, genetic counselors, nurse practitioners, case managers, social workers, a dietitian, medical assistants and insurance specialists.
The genetics team coordinates the diagnostic testing, screenings and consultations, and provides long-term follow-up care. Additionally, children ages 2 and up have the option of periodically attending a special multidisciplinary Down Syndrome Clinic, which is offered every other month.
Down syndrome occurs in about 1 in every 700 births, she said. Doctors often recognize the signs through physical examination, but confirmation is recommended. “The gold standard is a karyotype analysis,” Dr. Garza Flores said, referring to the blood test that makes the extra copy of chromosome 21 visible.
Children with Down syndrome share a common chromosomal abnormality. But each child is also unique. Celebrating their resilience and zest for life, we want to feature two perspectives. Let’s meet Libby and Sophie.
Liberty Joy “Libby” Sponsler weighed 8 pounds, 12 ounces at birth. First-time parents Joshua and Madison Sponsler thought their daughter’s face possibly had features of Down syndrome - a surprise since they had not done a prenatal test. While the rates of Down syndrome babies run higher for moms over age 35, Madison was just 21 years old. The midwife at their birthing center recommended the Sponslers take Libby to the pediatrician the next day.
The following morning, during the drive from their Bedford home to the doctor’s office, the bluish tinge in Libby’s hands spread to her whole body. They rushed to the Cook Children’s Emergency Department, where Libby received oxygen and was admitted to the Neonatal Intensive Care Unit (NICU) for a week of medical support and numerous tests. She indeed had Down syndrome, and also a hole in the heart called an atrioventricular canal defect.
Cook Children’s cardiologist Gregory Barker, M.D. explained that the defect involves several heart structures, causing excessive blood flow to the lungs.
“This results in symptoms such as trouble breathing and poor feeding,” Dr. Barker said. “If left unrepaired, it would lead to irreversible and severe damage to the lungs.”
At 6 months old, Libby returned to Cook Children’s for surgery to repair the walls between her heart chambers and to create separate tricuspid and mitral valves out of one large valve. It’s a complex procedure, Dr. Barker said.
“The good news is that with appropriate surgical intervention, patients go from having essentially fatal heart disease to having a healthy cardiovascular system,” he said. “Most of our patients get to the point of requiring cardiology follow-up only every one to two years.”
“We quickly saw a huge change,” Madison said of the surgery’s outcome. Libby no longer needed the medication that stabilized her oxygen level. Libby become more alert, ate better and began to gain weight. She visits Dr. Barker for checkups.
Texas Early Childhood Intervention (ECI) provides speech therapy and occupational therapy to Libby at home. Occupational therapy helped her learn to crawl and walk. Her therapy these days focuses on the consistent management of stubborn behavior.
“A lot of it is figuring out what works for Libby and what doesn’t work for Libby,” her mom said.
Madison said she and Joshua first reacted with shock to the Down syndrome news. But they soon found other families who provided support and helped them adjust their expectations. The diagnosis was scary and overwhelming early on, Madison said, but not anymore.
“The community helped me process everything. Once I was able to process, I was able to enjoy my baby, and it went really well from there,” she said.
Madison acquired the mindset that Libby might not follow certain timelines that other children do. And that’s OK. Libby likes to hold her little sister Ember. She enjoys playdates and music. She demonstrates that people with Down syndrome are capable of reaching their goals, Madison said.
“If she’s trying to stack blocks and having a hard time with her fine motor skills, I tell her ‘You can accomplish it if you want to accomplish it.’”
Prenatal screening indicated Down syndrome about 12 weeks into Brooke Worsham’s second pregnancy. Brooke and her husband Mark were already parents of a healthy toddler. But this second pregnancy had more complications: A scan revealed that unborn Sophie had a digestive disorder called duodenal stenosis. At risk for stillbirth due to low flow between the umbilical artery and placenta, Brooke spent six weeks in the hospital under close monitoring.
Sophie Elaine was born via C-section at 33 weeks, weighing 3 pounds, 8 ounces. The Worshams had pre-selected Cook Children’s as their destination for the surgery Sophie needed. Cook Children’s pediatric surgeon Thomas Rothenbach, M.D. operated when Sophie was just one day old, creating openings to bypass the obstruction in her small intestine.
About 25% of babies with duodenal atresia (complete obstruction) or duodenal stenosis (partial obstruction) also have Down syndrome. The duodenum, or the first section of the small intestine, fails to develop into a hollow tube in babies born with the condition.
“Because of this, nothing can pass from the stomach to the small intestine,” Dr. Rothenbach said. “The atresia has to be fixed for the baby to be able to eat.”
Sophie was also born with a hole in her heart that is now considered functionally closed without the need for intervention. Doctors can hear a slight murmur, but for now her heart is not a concern.
For six weeks in the Cook Children’s NICU, nurses and speech therapists helped with Sophie’s feeding challenges. Then after discharge to her home in Fort Worth, therapists from ECI stepped in. The therapy has helped Sophie learn to eat pureed foods supplemented by infant formula.
Occupational therapy, meanwhile, puts Sophie in poses to improve her strength and endurance. Tools for therapy include pillow props and toys to attract Sophie’s attention while she practices. Brooke calls the therapy a workout. “If we put her in position, she can hold it, but she’s not able to independently sit right now.”
The Worshams are hoping that Sophie can enroll next August in the KinderFrogs intervention program at Texas Christian University, which serves children with Down syndrome and other developmental differences. She’s on the waitlist.
Brooke describes her daughter as social, easygoing and adored by big brother Graham. Sophie is enamored by the ABC Song and her favorite light-up owl, and she’s fierce in striving to accomplish whatever she puts her mind to. She recently started grabbing her bottle and spoon.
“She’s going to do all the things, but just not in the rate that Graham did it. And so you just sit back and take it day to day and be patient. It’s going to take a little longer, and we don’t feel rushed.”
Kids with Down syndrome have the same interests, desires and emotions as other children, she pointed out. They want to be included but might need more help or a longer time to finish a task.
Like Libby’s mom, Sophie’s mom says the diagnosis was scary at first. Her advice? Find a group of other parents raising children with Down syndrome. Tap into their experience and support. Don’t look too far into the future. Be ready for the joy that Down syndrome children exude.
“Everyone she meets loves Sophie. She fits right into our family. Since she was born, everything has worked out, and our life is not any more complicated than just adding another child.”
Cook Children's offers one of the largest pediatric genetics centers in the United States. One resource is our Down Syndrome Clinic for children ages 2 years and older. The clinic convenes every other month to provide genetic physical examinations, genetic counseling and professionals who can address questions and concerns regarding your child’s health, growth and development. Screenings and brief evaluations are available in these areas:
- Communication and oral-motor skills, by speech/language therapists
- Fine motor skills and activities of daily living, by occupational therapists
- Gross motor skills, by physical therapists
- Hearing screening, by audiologists
- Vision screening
- Nutrition consultation
- Psychology consultation
Call 682-885-3951 to request an appointment for an upcoming clinic.