Grayson is a 6.5 year old boy, who at 24 days old, seemed like he would soon be on his way home from the neonatal intensive care unit, until the seizures started. That tiny baby was having so many tonic-clonic seizures, and required so much medication to stop them, that he had to be put on a ventilator to help him breathe. Pictures of his brain taken by MRI showed that an injury was taking place and his brain cells were dying. To search for the cause of his brain injury, Grayson was transferred to the local children’s hospital for biochemical tests and exome sequencing. But no cause was found.
Throughout his first few years of life, Grayson’s seizure types evolved from tonic-clonic to infantile spasms to periodic tonic-clonic to focal dyscognitive. He’s tried several medications to control his seizures. Though some medications help, Grayson continues to have focal dyscognitive seizures a few times a day and tonic-clonic seizures that require rescue medication periodically. His tonic-clonic seizures often happen in the early morning hours, which puts him at high risk for sudden unexplained death in epilepsy (SUDEP). Grayson also faces additional challenges that are partially due to the prolonged seizures that damaged his brain when he was a baby. He has intellectual disability, cerebral palsy, cortical visual impairment, hypotonia, and spasticity. He has a G-tube because oral motor challenges prevent him from eating quickly enough to consume enough calories, but this kid loves salmon sushi!
With Grayson’s seizures mostly controlled, his mom, who trained in human genetics, turned her attention back to his exome sequencing results to take a second look. At the same time, Grayson’s geneticist had also ordered a clinical review of his genetic testing. Both reviews arrived at the same conclusion: a mutation in the MAST4 gene was likely the cause of Grayson’s seizures. This answer led to the search for more patients like Grayson and more research into MAST4 and the MAST family of genes. So much more is needed to understand MAST function and to develop better treatments for Grayson and kids like him.
Read more about Grayson’s story and his family’s journey at Seattle Children’s.
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