For most parents, awareness about microcephaly might be limited to distant memories of online articles about Zika virus and accompanying pictures of infants with the condition.
Exposure to the Zika virus, particularly in the first trimester of pregnancy, can damage nerve cells in the developing brain. Concerns about Zika ran high in 2015 and 2016, when an epidemic led to an increase in babies born with microcephaly.
Other infections like toxoplasma, chickenpox, rubella or cytomegalovirus have also been found by medical experts to cause microcephaly.
But there’s more to learn about this rare disease. Following Microcephaly Awareness Day Sept. 30, here’s what parents should know.
What is microcephaly?
Microcephaly is a rare condition in which a baby’s head is much smaller than expected. The name for the condition comes from the prefix “micro,” meaning small, and “cephaly” which comes from the Greek word for head.
It occurs most often as a result of the brain not growing at a typical rate before birth or in early infancy—stemming from complications during pregnancy.
Centers for Disease Control sites certain infections, malnutrition during pregnancy or after birth, exposure to harmful substances and problems with blood supply to the baby’s brain during development as some of the causes of the condition.
When Laura Lovelle was pregnant with her daughter, Abrianna, and in her second trimester, she was informed that her daughter had microcephaly. She was told during pregnancy that Abrianna might not survive on her own. She was born on Feb. 10, 2009, weighing in at just 5 pounds and 6 ounces.
“At first, it was scary. We didn’t know what to expect,” Lovelle recalls.
Through genetic testing, Lovelle learned that her daughter was born with a chromosome deletion. Abrianna’s early childhood featured visits to a geneticist and neurologist, her first MRI at 2 years of age and lab tests. Abrianna started receiving physical and occupation therapy that same year. At 3 years old, Lovelle’s daughter began speech therapy as well.
“She is 15 years old now and has a mind and skill set of a 10/12-year-old child,” Lovelle says.
Awareness and treatment
According to the CDC, researchers estimate that one in every 1,150 babies is born with microcephaly in the United States.
However, cases vary widely by both their cause and their presentation because microcephaly is a physical sign for many different conditions, according to Ganeshwaran Mochida, a pediatric neurologist at Boston Children’s Hospital and a researcher in the field of neurogenetics.
Between 2015 and 2016, he served as a consultant with the World Health Organization to develop clinical guidelines for diagnosis and management of complications related to Zika.
Symptoms associated with the condition will vary depending on the cause, but most commonly, children with microcephaly will have differing degrees of intellectual ability.
Severe microcephaly is linked to seizures, speech delays, problems with movement or balance, vision or hearing problems and other neurological effects.
Earlier diagnosis means earlier intervention—something Mochida says can make a big difference in a child’s development.
With modern technology, medical professionals are sometimes able to detect microcephaly as early as the late second or third trimester, but sometimes growth is delated after birth and might still result in the condition.
“If you give more stimuli early, it is more likely to lead to better learning and better functional outcomes,” Mochida says.
This could mean services like speech, occupational and physical therapies, motor support or a mobility aid, speech or cognitive support needs, vision and hearing testing and management of seizures with medication, according to Mochida.
Lovelle credits physical, speech and occupational therapies with helping her daughter communicate “like a typical teen” and walk without the aid of braces.
Mochida is optimistic that with increased public interest, resources and time, emerging research on gene therapies could help more children with rare conditions like microcephaly—maybe preventing it or altering its development after birth.
“Together (with the public), we will achieve better treatment for them,” Mochida says.
Finding community
Lovelle, a Florida mom, went on to found Microcephaly Awareness, a Facebook group with support and information for families like hers.
In the group, which has more than 1,400 members, parents and individuals with microcephaly discuss how they navigate the challenges of daily life. They ask about experiences with early tests, potential outcomes, products for specific needs like mobility aids and developmental milestones.
Valerie Fletcher, an Ontario mother who joined the group in September, posted to learn about other parents’ experiences with MRIs to get a better idea of what to expect.
Fletcher’s son, Charles (3), was recently diagnosed with microcephaly. Parents in the group offered experiences and encouragement, reassuring her that their MRIs provided answers and explained a lot.
“Another lady commented and let me know her kid had nothing come back on the MRI,” Fletcher says. “That kind of settled my nerves.”
Support groups like Microcephaly Awareness can help parents navigate a microcephaly diagnosis by providing a broader understanding of what life might look like in the future, helpful resources and programs and emotional support from other families with firsthand experience.
“It gives families around the world a peace of mind to share stories, and get good advice and not feel alone,” Lovelle says.
While microcephaly is uncommon, internet support groups bring families navigating rare conditions together by providing a sense of community they might never find otherwise. Families who live in areas with higher populations might have more success finding in-person support groups for their specific circumstance.
