Elissa—also affectionately known as Lizzie-Lu and Lu-Lu by her team of caregivers—is our second daughter and was perfectly healthy when she was born. In February 2011, at just six months old, she had her first tonic-clonic (convulsive) seizure. It lasted over 30 minutes, and we felt helpless as we watched her endure.
Soon after Elissa’s first seizure, she began having myoclonic (brief jerk) seizures upwards of 30 times a day. The myoclonic seizures grew more frequent and intense over time. The tonic-clonic seizures also continued to occur at least monthly, with many lasting nearly 45 minutes in duration. Elissa was hospitalized 9 times that first year for complications related to seizures.
In February 2012, almost one year to the date of her first seizure, we received Elissa’s genetic test result—and a diagnosis of Dravet syndrome. While severe, treatment-resistant seizures and significant developmental delays are the primary conditions associated with this disorder, there are numerous other significant health issues we soon learned she would be facing—including being at high risk for SUDEP (sudden unexplained death in epilepsy). As you can imagine, our family was devastated by the diagnosis, and all that we imagined for Elissa’s future vanished.
State of Science
In 2010, increased recognition of Dravet syndrome led to more focused funding. NIH grants started supporting research on the molecular mechanisms and potential treatments for SCN1A mutations. This included basic research and early-stage clinical investigations.
Over the years, we have tried and failed numerous anti-seizure medications, clinical trials and non-traditional treatments in an attempt to gain better seizure control. With each failure, we push forward. Today, Elissa is participating in a clinical trial for a disease-modifying therapy that is showing exciting potential. Her seizure frequency is reduced, averaging 12-15 tonic-clonic seizures a month. This is actually extraordinary progress because, at its worst, Elissa endured an average of 15-20 nocturnal tonic-clonic seizures and 100-120 absence and myoclonic seizures DAILY. With a reduction in seizures comes cognitive improvement and a better quality of life. We embrace the good days as we never know what tomorrow will bring.
In addition to participation in the clinical trial, Elissa takes 4 daily anti-seizure medications. She attends a full-time therapy program and receives speech therapy and physical therapy. Through all of this, she is a happy girl with an infectious smile and laugh that brightens any room. She loves to sing- and dance-along to her favorites—Barbie and the Popstar, Winnie the Pooh, Madagascar, and a slew of You-Tube singalongs. Her prized possessions are her DVD collection, coins, and necklace beads. She loves spending time with her Nan and Pop.
Before DSF: Families faced overwhelming challenges with treatment-resistant seizures and limited hope for their children’s futures.
With DSF: Participation in clinical trials and advancements in research have led to improved seizure control and quality of life for Elissa and many others in the community.
Hope for the Future: Elissa’s family is advocating and raising funds for research, striving for more effective and accessible treatments that will offer better outcomes for Elissa and others like her.
While there are no certainties with Dravet syndrome, one thing will remain constant – we will never give up on our daughter. We are committed to doing everything in our power to ensure that Elissa and her Dravet brothers and sisters are provided an opportunity for a better outcome. We will work endlessly to advocate and raise funds for research into more effective treatments, and that those treatments are realistically accessible to patients.
This is our way to choose HOPE and to share in the resiliency that Elissa reminds us of every day. Thank you for being a vital part of our commitment by supporting the Dravet Syndrome Foundation.
With Gratitude, Elliot, Lynne, Elina and Elissa
