The Grace It Takes—Living with Dravet Syndrome
(BPT) - Grace is a gift. At eight years old, her infectious exuberance for life flashes in her big brown eyes and cheeky smile. She’s also a warrior. You would never know that at just six months old Grace was having hundreds of seizures per day. Her mother, Gloria, a fighter in her own right, has worked tirelessly to find answers to the medical questions that might help her daughter experience fewer seizures.
Grace has Dravet syndrome, a rare and severe form of epilepsy that usually begins within the first year of life. A 2015 study estimates the condition affects up to 1 in 16,000 infants born in the U.S. It is a lifelong, debilitating disease involving frequent and prolonged seizures that can dramatically impact a child’s development. Problems stemming from the condition can range from language and speech issues, difficulty with balance and movement, to chronic infections.
A long and terrifying road
When Grace was just four months old, she began having seizures 40 to 50 times a day. By the time she was six months old the number skyrocketed to 400 daily seizures. Gloria didn’t know at the time, but many of Grace’s seizures were triggered by events that typically bring children joy. A new toy, a warm bath, or a hug from her father after a long day at work would all trigger a seizure.
Gloria did a lot of her own research to try to understand what was happening to Grace. She and her husband saw neurologist after neurologist, taking nearly every medication recommended, but nothing provided Grace lasting relief as medications would help for a while, but then her seizures would return. Frustrated but determined, Gloria found a new neurologist who really listened and collaborated with her on treatment plans, and for the first time Gloria felt like she was mapping her way toward better answers for Grace. Their discussions led to genetic testing and finally, a diagnosis of Dravet syndrome.
When Gloria learned Grace had Dravet syndrome, she broke down. She had read about the severity of the condition and didn’t want to believe her daughter would have to live through a lifelong struggle with the disease. But their neurologist gave her advice that helped her move forward. She told Gloria she would have to mourn the life she thought Grace was going to have, but if Gloria could meet Grace where she was, she could help her daughter thrive.
There was also encouraging news on the horizon. Gloria’s neurologist had heard about a clinical trial for Epidiolex® (cannabidiol) oral solution, a cannabis plant-derived CBD medication that held promise for reducing seizure frequency in certain conditions. There was a chance Grace might be able to participate in the study, but she had to be two years old. Gloria had already done research on Epidiolex and the company that was developing it and was hopeful. She was warned about the possible side effects involved, including diarrhea, sleepiness and potential impact to liver function, but she believed it was worth trying.
When Grace began the trial at two, Gloria waited anxiously, hoping to see a shift. Ever so slowly, she began to notice the seizures lessen. Grace started making eye contact and began to open her arms when her mother approached—signs of recognition Gloria had been hoping for.
In 2018 the FDA approved Epidiolex to treat seizures associated with Dravet syndrome and another rare seizure disorder called Lennox-Gastaut syndrome. Its indication has since been updated to include seizures associated with tuberous sclerosis complex, and is approved for use in patients one year of age and older in all three conditions. Grace continues to take the medication today. While Grace is not completely seizure free, her seizure frequency has decreased since taking the medication.
Today, advances in research are helping families achieve diagnoses faster, which is paramount to finding appropriate care. Genetic testing is one way to identify Dravet syndrome, but it isn’t always a definitive indicator of the condition. There are other clinical markers that can help lead to a diagnosis, such as multiple seizures occurring before age one, two or more seizures lasting longer than 10 minutes, developmental plateauing or regression starting around age two, and failure to respond to antiepileptic drug therapy. It’s important to talk with a neurologist about seizure history as well as genetic testing and to consult with a genetic counselor to help understand test results.
Because Dravet syndrome is a rare, complex medical disease that is lifelong, it’s important for families to find comprehensive care. There are medical centers around the U.S. where professionals specializing in multiple disciplines can address many patient needs. These professionals not only have experience with the condition but are frequently involved in clinical trials that may help lead families to appropriate investigational treatments.
For those who are newly diagnosed, organizations like the Dravet Syndrome Foundation and the Epilepsy Foundation can also offer guidance and support.
Gloria doesn’t like to look back. But since day one, she and her husband have been an unstoppable force determined to provide the support and love Grace needs to thrive. Gloria learned early in their journey toward diagnosis to trust her instincts and to be persistent about Grace’s care. She hopes her story inspires other caregivers to seek the support they need for their loved ones.
Gloria and her husband take each day in stride. When Grace’s days are tough, so are theirs. But with fewer seizures, the anxiety that was a constant visitor in their daily lives comes a bit less frequently now. When asked how she’s doing, Gloria says, “It’s not perfect.” But, she adds, there is more room for laughter and joy. For more on Grace’s story, go to EPIDIOLEX.com.
Important Safety Information & Indications
What is the Most Important Information I Should Know About EPIDIOLEX (cannabidiol)?
Do not take if you are allergic to cannabidiol or any of the ingredients in EPIDIOLEX.
EPIDIOLEX may cause liver problems. Your doctor may order blood tests to check your liver before you start taking EPIDIOLEX and during treatment. In some cases, EPIDIOLEX treatment may need to be stopped. Call your doctor right away if you start to have any of these signs and symptoms of liver problems during treatment with EPIDIOLEX:
- loss of appetite, nausea, vomiting
- fever, feeling unwell, unusual tiredness
- yellowing of the skin or the whites of the eyes (jaundice)
- unusual darkening of the urine
- right upper stomach area pain or discomfort
EPIDIOLEX may cause you to feel sleepy, which may get better over time. Other medicines (e.g., clobazam) or alcohol may increase sleepiness. Do not drive, operate heavy machinery, or do other dangerous activities until you know how EPIDIOLEX affects you.
Like other antiepileptic drugs, EPIDIOLEX may cause suicidal thoughts or actions in a very small number of people, about 1 in 500. Call a healthcare provider right away if you have any signs of depression or anxiety, thoughts about suicide or self-harm, feelings of agitation or restlessness, aggression, irritability, or other unusual changes in behavior or mood, especially if they are new, worse, or worry you.
Take EPIDIOLEX exactly as your healthcare provider tells you. Do not stop taking EPIDIOLEX without first talking to your healthcare provider. Stopping a seizure medicine suddenly can cause serious problems.
What Else Should I Know When Taking EPIDIOLEX?
The most common side effects of EPIDIOLEX include increase in liver enzymes, sleepiness, decreased appetite, diarrhea, fever, vomiting, feeling very tired and weak, rash, sleep problems, and infections.
EPIDIOLEX may affect the way other medicines work, and other medicines may affect how EPIDIOLEX works. Do not start or stop other medicines without talking to your healthcare provider. Tell healthcare providers about all the medicines you take, including prescription and over-the-counter medicines, vitamins, herbal supplements, and cannabis-based products.
What Additional Information Applies to Women?
If you are pregnant or plan to become pregnant, EPIDIOLEX may harm your unborn baby. You and your healthcare provider will have to decide if you should take EPIDIOLEX while you are pregnant.
If you become pregnant while taking EPIDIOLEX, talk to your healthcare provider about registering with the North American Antiepileptic Drug Pregnancy Registry (by calling 1-888-233-2334). The purpose of this registry is to collect information about the safety of antiepileptic medicines during pregnancy.
Because many medicines like EPIDIOLEX are passed into breast milk, talk to your healthcare provider about the best way to feed your baby while taking EPIDIOLEX.
What is EPIDIOLEX (cannabidiol)?
EPIDIOLEX is a prescription medicine that is used to treat seizures associated with Lennox-Gastaut syndrome, Dravet syndrome, or tuberous sclerosis complex in patients 1 year of age and older.
It is not known if EPIDIOLEX is safe and effective in children under 1 year of age.
You are encouraged to report side effects of prescription drugs to the FDA. Visit www.fda.gov/medwatch, or call 1-800-FDA-1088. You may also contact Greenwich Biosciences at 1-833-424-6724 (1-833-GBIOSCI).
 Wu, E., et. al. (2015). Incidence of Dravet Syndrome in a US Population. Pediatrics 136(5): 1310-e1315. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4747124/ [Accessed April 9, 2021]
 https://www.dravetfoundation.org/what-is-dravet-syndrome/ [Accessed April 1, 2021]
 https://www.dravetfoundation.org/what-is-dravet-syndrome/ [Accessed April 1, 2021]