Legaci was two months old when her mother noticed something strange — and frightening. Her eyes sometimes turned inward. Later, they began rolling upward and appeared to get stuck.
At first, Akron resident Destiny Moore, a first-time mother, thought the unusual movements were part of normal newborn development. But her concerns grew as episodes continued and Legaci struggled to reach milestones such as holding her head up.
Legaci’s pediatrician identified low muscle tone. An ophthalmologist (a physician who specializes in diagnosing and treating eye conditions) referred the family to a pediatric neurologist. Months of testing followed as specialists searched for answers.
Test after test came back normal. “I don’t feel like this is normal baby behavior,” Moore remembered saying.
Genetic testing finally revealed that Legaci had ELP2-related disorder, an ultra-rare genetic condition caused by variants in the ELP2 gene, which affects normal brain and nervous system development. There is no established treatment or cure, and doctors are still learning how the condition affects patients over time.
Moore, 26, hopes that by sharing Legaci’s story, families facing similar challenges know they are not alone and that they can find resources. After all, receiving a rare-disease diagnosis is only the beginning of the journey.
“I think she can have a bright future because of early intervention and just being able to catch her diagnosis early, where we are able to do everything we can to ensure she has the best life possible,” Moore said of her daughter.
Navigating life after Legaci’s diagnosis has meant adapting to new challenges, seeking support and advocating for her daughter. Even more challenging: No two cases of the ELP2-related disorder are exactly alike, leaving Moore and other families to navigate complex medical decisions while searching for specialists.
Some conditions are so uncommon that physicians may not encounter patients
During Moore’s search for answers, she discovered that many physicians with experience treating ELP2-related disorders are located outside Ohio, making access to specialized care more difficult when insurance coverage becomes a barrier.
In Akron, Dr. Carrie Costin had not previously treated a patient with an ELP2-related disorder, but treating children with rare genetic disorders is a routine part of her work at Akron Children’s. Many of those conditions are so uncommon that physicians may encounter only one patient — or none at all — during their careers.
“ELP2 is not something that I specifically was familiar with, or have any patients that also have this disorder,” said Costin, the hospital’s director of genetics.
“But that is not uncommon in the world of genetics and rare disease.”
Geneticists often rely on medical literature, research networks and collaboration with specialists around the nation to better understand these conditions and guide families through diagnosis and care.
Fewer than 30 cases of ELP2-related disorder have been reported in the medical literature.
The condition can affect children differently, but reported symptoms include developmental delays, seizures, low muscle tone and, in some cases, autism spectrum disorder. Doctors are still learning how the disorder affects patients long-term.
When a genetic condition is diagnosed, care often involves a team of specialists working together to address a child’s individual needs. For disorders affecting the nervous system, neurologists, genetics providers and other specialists may collaborate to develop a care plan, said Dr. Matthew Ginsberg, a pediatric neurologist at Akron Children’s. “Not every child needs that level of coordinated care,” Ginsberg said. “But when they do, we work together in a multidisciplinary clinic to coordinate their treatment.”
Because many rare diseases do not yet have cures, care often focuses on managing symptoms, supporting development and improving quality of life. Early intervention services and therapies can help children build skills while allowing providers and families to monitor progress and adjust care as needs change.
Finding resources in online communities
Accessing information and support is an important part of managing care after diagnosis.
“There’s things that families, especially at the beginning of their journey, may just not even be aware of,” Ginsberg said. “They may need to ask about it.”
Resources such as the Complex Medical Help Program, the National Organization for Rare Disorders and the Ohio Department of Developmental Disabilities can help families access services, information and advocacy networks. Patient registries and natural history studies also help researchers better understand rare conditions and identify areas for future research.
“Sometimes with rare disorders, a patient support group or family advocacy page has already helped connect researchers who are collecting data,” Costin said.
She also encouraged families affected by the same, rare disorders to connect with others who understand the challenges.
In Akron, after Legaci’s diagnosis, Moore turned to rare disease networks and research platforms to learn more about ELP2-related disorders and connect with other families. Resources such as GeneMatcher, MyGene2 and RARE-X help families and researchers share information and advance understanding of rare conditions.
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Now eight months old, Legaci continues to make progress — thanks to early intervention and family support.
She has better head control, is close to sitting independently, is starting to hold her bottle and continues to reach new milestones. Her diagnosis is part of her story, her mother said, but it doesn’t define her.
“She still deserves every opportunity to reach her fullest potential,” Moore said.
“Nobody knows your child better than you,” Moore added. “Keep advocating until you get the answers you deserve.”
