Story
Logan’s journey with infantile spasms and CVI
When Logan's rare disease and polymicrogyria caused seizures, Lyla pushed for an infantile spasms diagnosis, leading to his CVI diagnosis.
Lyla shares her son Logan’s journey with a rare genetic mutation (COL4A1) and brain malformation (polymicrogyria), which led to seizures and a later diagnosis of Cerebral/Cortical Visual Impairment (CVI). Despite initial challenges with identifying his seizures as infantile spasms, Logan’s family persisted in advocating for his care. Over the years, Logan’s CVI and epilepsy has presented significant challenges, with seizures impacting his vision and development.
Logan’s path to diagnosis: A mother’s persistence in identifying infantile spasms
Logan’s unusual movements were initially dismissed as reflux, but Lyla trusted her intuition, recorded these episodes, and pushed for further tests. Like a mama bear protecting her cub, Lyla’s fierce advocacy ultimately led to the diagnosis of infantile spasms.
- First signs of infantile spasms: At four months old, Logan exhibited noticeable spasms. They were characterized by sporadic, exaggerated startle-like movements, occasional eye rolling, and crying afterward, though not in clusters initially.
- Trust your gut: Logan’s mother captured these movements on her phone. When she shared them with Logan’s neurologist and team, who suggested that looked like reflux. As an experienced mother to four children, Lyla knew in her gut that this was not reflux. She kept recording and sharing these episodes with the neuro team.
- Stay persistent: Logan’s parents pushed for answers and got the neurological team to do multiple EEGs. During this time, Logan’s spasms increased in frequency and clustering. Then, his EEG results showed a shift from chaotic background activity to the hypsarrhythmia pattern of infantile spasms.
Navigating infantile spasms and CVI
After Logan’s official diagnosis at five months old, he started a first line treatment for infantile spasms known as ACHT. While on the medication, his family noticed Logan wasn’t tracking, making eye contact, following things, and he didn’t seem to recognize items in front of his face— all common signs of CVI, which prompted an ophthalmology referral. The exam with the ophthalmologist revealed that Logan’s eyes were healthy but confirmed CVI due to his brain malformation, polymicrogyria. Support from his Teacher of Students with Visual Impairments through Perkins School for the Blind became an essential resource in Logan’s vision journey.
Finding hope
An estimated 64 to 78% of children with CVI are diagnosed with epilepsy. Seizures can cause damage to the visual pathways in the brain, which can cause CVI.
When Logan was five years old, Logan had epilepsy brain surgery, involving a resection of part of his right parietal and occipital lobes where a large portion of his polymicrogyria was removed, disrupting the starting point for many of his seizures. Post surgery, Logan’s mother observed significant developmental and vision improvements.
Logan’s diagnosis of CVI requires continuous support from his family and educational team.
Surgery was the scariest, but the greatest thing we could have done for Logan. We are forever grateful to live in an area that has such great medical care and therapies and continuous vision support.
-Lyla March
Resources and next steps
- Learn more about CVI in children with complex needs through our video series DEE-P Connections about CVI in kids with complex needs and the overlap between CVI and developmental epilepsies.
- Learn more about how CVI is diagnosed and educational assessments for students with CVI.
