Alaina is a sweet 19-year-old who lives in Smyrna, GA with her parents, Blaine & Shannon, and her siblings, Brandon and Courtney. She had her first seizure at four months old. It was the first of many prolonged and very scary seizures in her first few years of life.
In 2009, at age 4.5, she was diagnosed with Dravet syndrome after genetic testing confirmed she has a mutation on the SCN1A (sodium channel) gene. After the diagnosis, they realized the seizures were so bad at that time because she was on two medications that are sodium channel blockers, so those drugs were making the seizures worse instead of helping.
Unfortunately, at that time, Dravet syndrome was not all that well-known, so the testing was never considered before that. Her parents are thankful that now many infants are getting tested after the first or second long seizure because medical professionals are recognizing that is not your typical fever-induced seizure.
State of Science
In 2009, initial NIH funding for Dravet syndrome research was minimal, as the syndrome was still being defined and understood. Research during this period focused primarily on the genetic basis of epilepsy and the identification of SCN1A mutations.
Alaina has been on many medications and participated in three clinical trials for new treatments. It seems it is always a balancing act to find the medications and doses that control the seizures at least somewhat, but don’t result in terrible side effects. Typically, if the seizures are less frequent, that means she’s not eating or has terrible behavior because of the medications. Just when you get comfortable with what is “normal”, it seems something will always change. Most of her seizures are when sleeping which means they are easier to manage and there is less chance of getting injured from a fall, but it is also scary that she could have one when no one is watching to keep her safe. When she does have one during the day, it can be devastating because you get into a place of comfort where you feel like you don’t have to worry about that…then suddenly the fear is back. It is especially scary when they happen in the pool where just a few seconds underwater could have devastating consequences.
Her parents try to give her and her siblings the best life possible given the challenges she faces. They take family vacations, go on hikes and get out into their community as much as they can even though it can be challenging at times. She has lost a lot of strength and endurance in recent years, but they know it is important to keep her as active as possible. Seizures can strike at any time which can make things interesting, but they try not to let the fear stop them from doing things they enjoy as a family.
Before DSF: Like Alaina, many in the Dravet community faced delayed diagnoses and worsening seizures due to a lack of awareness and treatment options.
With DSF: The Dravet community now benefits from advancements in genetic testing, early diagnosis, and access to new, specialized medications.
Hope for the Future: The Cloud family envisions a future where continued research leads to better treatments, genetic therapies, and ultimately, a cure for Alaina and others like her.
Alaina loves her siblings and does everything she can to drive them crazy on a regular basis. Her development is at about the level of a four-year-old, but she knows how to push their buttons and they are not always willing recipients of her aggressive style of loving them. There is a “one hug per day” rule in their house which can be difficult to enforce! She also loves her friends and teachers in her special education classes at school. She often will find a friend at school to be her best buddy, typically someone that she thinks needs her to show them what to do.
Alaina loves watching The Backyardians, Daniel Tiger and Cocomelon and playing the Minion Rush game. She loves to swim and jump on the trampoline. As is common with Dravet, she will get stuck on one or two foods and only want to eat those. The obsession could last for a month or several months, then one day she wants nothing to do with those foods and moves on to something else. Over the years, some of her repeat favorites have been Stouffer’s fettuccine alfredo, Zatarain’s blackened chicken alfredo pasta, Jimmy Dean breakfast bowls, pigs in a blanket, and any form of cheese. Her version of a “salad” is to put various types of chips and put them on a plate together.
Thanks to DSF and the strength of the Dravet community, there are now three medications specifically approved for Dravet syndrome and genetic therapies could become a possibility in the future. There is so much more research that needs to be done to find a cure for Alaina and everyone else who suffers from Dravet syndrome, so her family is grateful to everyone who gives of their time and resources to continue this important fight.
