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My son Leonardo was born on July 20, 2006, in New York City. We have always said that Leo was born to be a warrior.
When I was giving birth to him, Leo became wrapped in the umbilical cord, and his heart stopped for a few seconds. He was also born with a hematoma on his left leg. It was a very difficult and scary moment for our family, but Leo made it through.
His first five months were normal. Then, when he was five months old, he got RSV. After that infection, he was diagnosed with asthma. For several months, we had to take him to the hospital almost every month because of his asthma attacks. Thankfully, by the time he was about five years old, his asthma episodes had disappeared.
When Leo was eight, he had surgery to remove the hematoma on his leg because it had grown and was starting to bother him during his activities. Around the same age, he was also diagnosed with ADHD.
Then, on June 9, 2015, when Leo was eight years old, he had his first seizure at school. It was a horrible, confusing, and frightening experience for our family. We did not understand what was happening or why it was happening.
About a month later, he had a second seizure. We were referred to a neurologist, and the day before his appointment, he had a third seizure. At that point, we were told that he was being diagnosed with epilepsy.
Leo first started taking Keppra. He had many EEGs and different tests, but we were always told that there was no specific cause for his seizures. Over the years, he experienced different types of episodes, including absence seizures, focal seizures, and even episodes that were thought to be nonepileptic.
He tried different medications as doctors worked to control his seizures. At one point, he was taking Depakote, Lacosamide, Clobazam, and other medications.
In July 2021, we decided to move from New York to Michigan. I was very worried about Leo because I was afraid we would not find a neurologist who could continue his treatment and help us.
But something wonderful happened after we arrived in Michigan. Because Leo was a new patient, his doctors ordered different tests. In December 2021, we finally discovered the real cause of his seizures: Leo had Pyridoxine-Dependent Epilepsy, or PDE.
For my husband, my daughter, and me, the diagnosis was something we had never imagined. It was difficult to believe that something like PDE could have been causing Leo’s different types of seizures for so many years.
At the same time, knowing the exact cause gave us something we had never had before: a clear path to follow. It changed everything for us and gave us hope that we could finally find treatments that could help Leo.
After his diagnosis, Leo started taking vitamin B6 (pyridoxine). He continued with his seizure medications, and some of them were adjusted because he was still having episodes.
About two years ago, Leo started triple therapy. His treatment includes his medications, vitamin B6, a lysine-restricted diet, and L-arginine. His dietitian recommended a vegan diet with no animal protein, no soy, and avoiding other foods that are high in lysine. He takes 9,000 mg of L-arginine each day, divided into three doses of 3,000 mg in the morning, 3,000 mg in the afternoon, and 3,000 mg at night, always with food, 300mg b6 twice a day, plus his medications; clobazam, lacosamide, divalproex, and lamotrigine.
Adjusting to the diet has not been easy because Leo was used to eating everything. But we have also seen positive changes since starting triple therapy, and we are very thankful for the progress he has made.
Finding out about PDE also led us to this wonderful group of parents who are going through a similar journey. Being able to connect with other families has meant so much to us. It has helped us feel that we are not alone.
There is still something I find difficult to understand. I am very thankful to God that Leo’s first symptoms of PDE appeared when he was eight years old. I often think about how different his life might have been if his symptoms had started much earlier.
Today, despite all the difficulties and obstacles Leo has faced and overcome, he is a 20-year-old young man who works, loves art, and is responsible and loving. He has some difficulties with communication because he had delays in understanding when he was younger, but he continues to learn, grow, and move forward.
Leo would also like to learn more vegan recipes so he can have more variety in his diet.
As his mom, this journey has been difficult, but it has also taught me so much about strength, patience, faith, and hope. We are grateful to God for bringing us this far and for putting wonderful people and families in our path.
We continue to hope for Leo and for every child and adult living with PDE. We are thankful for the parents who share their experiences, and for the doctors and researchers who continue working to understand PDE, find better treatments, and hopefully one day find a cure.
Leo has always been a warrior, and we will continue walking this journey with him.
