It’s incredible how just four letters can contain so much meaning. Take the four letters, Lexi — the name of a sweet, 5-year-old girl with long eye lashes and a soft head of curls. Or the four simple letters — BPAN — that stand for the complex genetic condition that affects Lexi. Or the four hopeful letters — CHOP — that stand for the place where Lexi and her family found answers and support.
Call it a mother’s intuition. Christina had worried about Lexi’s health even before she was born. While Christina’s first child, Lukas, had been very active in the womb, Lexi was not. It worried Christina so much that she requested additional ultrasounds throughout her pregnancy to make sure Lexi was OK.
When Lexi was born, she seemed like everyone’s vision of the “perfect” baby. She was chubby and healthy, she ate and slept well, and she didn’t cry or fuss much.
“Most parents would think, ‘what a great newborn,’” says Christina. “But for me, it was anxiety producing. I kept taking her to the pediatrician, and they thought I just had newborn mom jitters.”
Early signs of something amiss
When Lexi started missing milestones, the pediatrician acquiesced and referred her to Early Intervention. Lexi started seeing therapists for applied behavior analysis, physical therapy, occupational therapy, speech and feeding. In an effort to help build her cognitive and core strength, Christina also enrolled her in hippotherapy (which involves riding a horse), music therapy, and swim therapy.
“We were willing to do and try anything to help,” says Christina. “Our gut instinct told us this was only the beginning.”
When Lexi was 11 months old, her physical therapist was recording her bouncing on a ball when she noticed Lexi stare off for about five seconds. To the untrained eye, it might have looked like she was daydreaming. But the therapist suspected Lexi was actually having what’s called an absence seizure.
Lexi’s parents immediately reached out to Children’s Hospital of Philadelphia’s Division of Neurology. After an evaluation that included an MRI and electroencephalogram (EEG) studies, Lexi was diagnosed with epilepsy and prescribed medication to help control her seizures.
“Those five seconds the PT caught on film saved Lexi from a world of pain,” says Christina.
Pinpointing the genetic cause of epilepsy
CHOP’s Epilepsy Neurogenetics Initiative (ENGIN) is dedicated to identifying the underlying genetic variants causing a child’s seizures in order to develop an individualized approach to treatment and management. Genetic testing determined that Lexi had a very rare genetic disorder known as beta-propeller protein-associated neurodegeneration (BPAN), which is caused by mutations in the gene WDR45.
More About BPAN
BPAN is a debilitating condition that results in severe developmental delays and epilepsy. Like most individuals with BPAN, Lexi is unable to speak. Sleep disorders and feeding difficulties are also common with the disorder. During adolescence or adulthood, people with this condition experience new challenges, including progressive dystonia-parkinsonism and cognitive decline. They begin to lose the skills they had previously gained. Most individuals with BPAN do not live past middle age. To date, fewer than 500 individuals have been diagnosed with BPAN globally. Most are females.
“We were told there was no treatment,” says Christina. “It’s the worst kind of news; no parent wants to hear it or believe it.”
It took a few days for the family to process the news, but once they did, they committed themselves to doing everything they can to advocate for Lexi. Christina joined a Facebook group for parents whose children have the condition. She bonded with the mother of a little girl with BPAN named Morgan from Michigan. The two teamed up to create the Don’t Forget Morgan Foundation, which is dedicated to advancing BPAN research and improving the lives of all children with the condition.
“It’s not an option for me to just watch my kid suffer knowing there is nothing out there to help her,” says Christina. “Lexi brings me so much joy. My hope is simple: to find a treatment that allows her to live a pain-free, happy life.”
Finding hope in CHOP’s dedicated BPAN clinic
Christina was instrumental in advocating for the creation of CHOP’s new Clinic for BPAN and WDR45-related Disorders. She joined forces with Brenda Banwell, MD, Chief of CHOP’s Division of Neurology, Laura Adang, MD, PhD, Attending Child Neurologist, and Katherine Helbig, MS, CGC, Co-Director of ENGIN, to establish this comprehensive clinic, which bridges the gap between clinical care and research for children with BPAN.
“CHOP’s BPAN Clinic is a game changer,” says Christina. “There’s no playbook for rare diseases. This type of clinic is so desperately needed within the rare disease community. It makes a tremendous difference when families are trying to navigate through unchartered territory. It gives us hope.”
This dedicated program brings together an interdisciplinary team of experts — including an attending neurologist, a genetic counselor with specialty training and experience in the diagnosis and management of neurogenetic conditions, occupational and physical therapists, members of ENGIN’s research team, and attending neurologists who are deeply knowledgeable in BPAN and WDR45-related disorders — to manage the unique needs of children with this rare disease. The clinic will allow for the development of individualized care plans and the platform to better understand and treat BPAN in the future.