Harra’s Story

Almost 2 years ago, I came across a Facebook post that has benefited our son’s life in ways that, until then, I could only imagine. I am sharing our story, as I hope it will aid you in finding an answer for your child’s challenging medical situation.

At that time, I felt helpless, hopeless at times, just in a very dark place. I was tired from trying to find a home-work balance and endlessly searching for something that would help our son. He was diagnosed with myoclonic epilepsy of infancy (MEI) at age 18 months, and weeks before his fifth birthday he received an additional diagnosis of high-functioning autism.

Over the years he tried several medications, depakote, onfi, keppra, lamictal and zonegran with hopes of decreasing his seizure activity. Unfortunately, his seizures were resistant to the medications. His behavior was disabling, preventing him from being happy and calm as he once was. He began to have tantrums or what we call outbursts, since they are a large outburst of emotion that he is unable to control. His outbursts occurred when he didn’t get his way or when he didn’t feel well neurologically but could not convey that to us. He would cry and scream for hours, red faced, not able to be redirected and with no concern of his surroundings. Nothing would pacify him, we had to wait until his emotions subsided. Even when he was not experiencing an outburst his behavior was difficult to manage as he didn’t listen to direction, was always in a rush, had a short attention span, and seemed irritable and agitated. This was coupled with the fact that his medication prevented him from developing communication skills, he needed a device for others to understand his wants and needs.

So many thoughts and questions constantly swirled in my mind. Was the medication causing these behaviors and making his seizures worse? Could this be autism or are these behaviors a result of his epilepsy syndrome? All these labels at such a young age. Can’t he get a break? How can I help him? How can I help our family feel less trapped by his behaviors? We felt excluded from gatherings of friends and family, unable to attend outings as a family of four or having to leave early due to an outburst—this was our life for many years. Consequently, I pushed many people away, just trying to figure out and make the most of our situation.

One fall evening in 2020, I was preparing dinner and awaiting a call from my hubby to hear those uplifting words, “I’m on my way home from work,” I was compelled to check Facebook. This was not my norm, since I typically go on social media only after the kids are asleep because of the tendency to keep scrolling. But I found a post delivered by a mom who was speaking about her sons’ experience with the agent leucovorin. Her boys, like my son, had epilepsy and autism, and leucovorin had stopped their seizures. STOPPED them! Chills ran down my spine. I needed to know more immediately. I learned that the physician who cares for the boys is based in Arizona, and his name is Dr. Richard Frye. The boys have cerebral folate deficiency (CFD), a rare condition that was novel to me. Digging deeper, I began noticing similarities between our son and the description of children with CFD. Babies with CFD meet their milestones until their first year, then around age 2, they begin to regress. They show cognitive and speech regression, motor function impairment, loss of muscle tone, epilepsy, and signs of autism. I even found that these children can have extremely soft skin, which, again, is consistent with our son. After reading all of this information, my head was spinning. Could he have CFD and not MEI, even though the second (and third) medical opinions all agreed with his original diagnosis? Why have I not heard of this condition? He’s already 5–is it too late to treat if he does have CFD? What would his neurologist think?

Thankfully, my husband called after I had read the description of CFD, so I had more than just a Facebook post to share. I could barely get my words out, I was so excited! After I shared my findings and he did some research of his own, he was on board. We found that leucovorin not only is used to treat intractable epilepsy, but has also been shown to decrease autistic behaviors—without the same disabling side effects as antiepileptic agents. Could this be our answer? Our son’s neurologist was willing to try the new medication, since his seizures were not decreasing in number despite his triple therapy of depakote, lamictal, and zonegran.

We began noticing a positive effect within weeks of our son’s starting leucovorin. His daily seizure counts dropped from 30-50 to 10-20, he began speaking intelligibly, and he was more redirectable. After several months of leucovorin and with guidance from his neurologist, we weaned him off of two of the three medications while increasing the leucovorin. His seizure counts further decreased to 0-10 a day. That’s right, some days he was seizure free! His ability to speak was progressing rapidly, and he actually began to sing–something I had always hoped to hear. His overall behavior had transformed from moodiness and agitation to happiness and calm. He was able to be redirected and to play independently. All of these changes were quite dramatic, and they continue to amaze us as he grows and we modify his dose of leucovorin. There are still hiccups along the way since he is continually growing and changing, he is a moving target. We continue to closely monitor his seizure activity and modify his doses of leucovorin and depakote as he grows (with the help of his physicians). Nothing is perfect but leucovorin has helped him achieve more than any other medication.

In the picture above what color is this little guy’s shirt? Green, right? But if you take a moment, you’ll realize that there are many shades of green, and each of you may have a somewhat different answer. At first glance, yes, the shirt is green, much like our son’s original diagnosis was MEI, seemingly straightforward and based on his repetitive myoclonic seizures. But was it really? For years, thinking our son had MEI, I was perplexed as to why the typical medications used to treat this disorder could not stop his seizures. What was the underlying cause of his epilepsy? What changed in our healthy boy at 18 months? Genetic testing, at present had indicated no error in his transcript, but there could still be a genetic link that has not yet been identified. There must be a reason for his unrelenting neuronal firing. His brain structures appeared normal with MRI, but what about the cellular processes–were they functioning properly? I searched for years, reading all I could find in the neuroscience literature and on epilepsy websites. Until finally, I found an answer where I never expected to find one: Facebook. That post led me to learn about CFD and specifically folinic acid responsive seizures. The shirt is not just green, it’s forest green.

Parents, this journey to help your child is a marathon. Some days, weeks, months, or even years may be dark, but there is always a light. Look into your little one’s eyes, where that light is shining. Your child believes in you, and you have to learn to believe as well. Whether the answer is leucovorin or another agent, your child’s disease may be caused by something amiss that is yet undetected, something as simple as deficiency in a nutrient. Your child’s physician is your guide to his or her health, but you are the one who can keep questioning and researching, and perhaps even teach them something new. Ask them to look outside the box, even question that all that surrounds the proverbial box.

Keep doing what you are doing, putting one foot in front of the other and continuing to push forward. I believe you will find the tools needed to help your little warrior.

I hope that our son’s story will help to spread the incredible benefits of leucovorin to other children with epilepsy and/or autism and encourage parents in their quest for answers. Thanks for taking the time to read our story, and allowing me to pay it forward.