31 May Leonardo’s Superhero Story
Leonardo is a SLC13A5 Superhero. Here are a few fun facts Leonardo’s family shared with us!
- Name: Leonardo
- Age: 3
- Homecountry: Brazil
- Favorite cartoon: Bob the Train.
- Favorite outing: biking with mom.
- Leonardo loves listening to children’s songs, country music and MPB “Brazilian popular music.” He is delighted when someone sings to him!
- He likes it a lot when his nanny or mommy read books about history to him.
- Television Show: He loves to watch the “Flamengo” soccer team play with his dad.
Leonardo’s Medical Journey
Leonardo was born on 12/21/2018. After birth, he had some breathing difficulties and was immediately referred to the Neonatal ICU and put in an oxygen hood to help with his oxygen saturation.
He remained stable and was expected to be discharged when he was three days old. However on December 24, Leonardo had two seizures, each lasting a few minutes. He started phenobarbital in order to control his seizures and spent a total of 23 days in the ICU before going home.
At home, Leonardo started treatments with a pediatric neurologist and an infectologist, due to his mother having acquired Toxoplasmosis during while pregnant. After Leonardo began having unexplained seizures, his doctors decided to treat him monthly to confirm that the toxoplasma had not been passed on.
When Leonardo was two months old, he underwent a brain mapping that suggested seizures. Leonardo had hypotonia (low muscle tone), especially with his neck, and began going to occupational therapy. When he was six months old, Leonardo was rushed to the hospital after a febrile seizure that lasted 3-4 minutes, with blinking eyes, drooling, and movement of his arms and legs. His fever was controlled and his seizures stopped until the following month when he began seizing again from a throat infection and a fever.
Leonardo’s first non-febrile seizures began when he was nine months old. He had five seizures that all took place while he was sleeping. He began taking another anti-seizure medication, and later added another to help control his seizures.
Leonardo does not walk, and moves by rolling. He has attended the “Escola Normal’ since he was one year old. Leonardo adores his school friends and usually wakes up early to get ready for school with lots of joy and excitement.
With the care of his doctors, it has now been more than two years since Leonardo’s last seizure. Although he still has been seizure free, there are still constant struggles and concerns. We are hopeful for a cure so that Leonardo can have a better and more normal life one day.