Dr. Marcelo Diaz-Bustamante of Johns Hopkins University is not only a devoted father; he is also a devoted researcher studying infantile spasms, a severe form of childhood-onset epilepsy. Dr. Diaz-Bustamante’s daughter Myriam was diagnosed with the disorder in 2016.
Infantile spasms is a hard-to-treat form of epilepsy that normally starts in the first year of life and is characterized by subtle seizures, abnormal brain activity, and developmental delay or regression.
Faced with Myriam’s daunting diagnosis, Dr. Diaz-Bustamante had his daughter’s genes sequenced as part of CURE’s Epilepsy Genetics Initiative (EGI). EGI examines genetic information to uncover the causes of epilepsy and advance precision medicine. Amazingly, gene sequencing pinpointed the cause of Myriam’s infantile spasms to a mutation in a GABA receptor, which is a type of neuronal receptor important in maintaining the balance of excitatory and inhibitory activity in the brain. After learning of this mutation, Dr. Diaz-Bustamante changed his research focus to devote himself to studying this infantile spasms-causing mutation.
Since his daughter’s diagnosis, Dr. Diaz-Bustamante has formed a deep connection with CURE. He has hosted a CURE-sponsored seminar at Johns Hopkins University and has participated in CURE’s Day of Science events. Dr. Diaz-Bustamante credits CURE with providing both education about and a human face to epilepsy, creating a feeling that he and his family are not alone in their fight.
In fact, Dr. Diaz-Bustamante believes the biggest challenge facing parents whose child has been diagnosed with infantile spasms is a lack of hope; “It is difficult to remain hopeful with all of the scary information available on the internet, coupled with many pediatricians’ lack of knowledge about the disorder.” Still, he is hopeful about the future of epilepsy research, noting that growth in the field over the past 10 years has been exponential with heightened understanding of epilepsy and increased research into new treatments and therapies.
While Myriam has gone through more than 5 different types of treatments and therapies to control her spasms, we are happy to report that she is finally experiencing some improvement. However, Myriam still has a long road ahead of her. There is a continuing need for the devotion of research and resources to uncover the causes of childhood epilepsy. As Dr. Diaz-Bustamante notes, “We have the tools to investigate the causes of epilepsy, but if there isn’t enough money for research, we can’t investigate potential treatments.” CURE agrees. We thank Dr. Diaz-Bustamante for his devotion to finding a cure for infantile spasms.