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.
Original source can be found here.
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