A mother’s story of living with the challenges of her daughter’s seizure disorder — Dravet Syndrome, a rare and catastrophic form of epilepsy.
Funny thing, but I knew from conception that I was going to have a girl and I would name her Daniela (in honour of my husband’s sister, may she rest in peace). My husband believed I ‘willed the baby’ to be a girl, our special angel. Little did we know how special Daniela would be!
As a first time mom, I doted on my little one…with every cry, with every whimper, I was there for her. Even when my own mom would say ‘let her cry it out…don’t pick her up right away…she has to learn to soothe herself…thankfully I did not listen. I wanted to be with her always, to protect her, to swaddle her, to love her. And on that fateful day, February 10, 1993, when she cried out to me from waking from her afternoon nap, I ran to her…I couldn’t wait to be with her. But when I went to her crib, what I found changed my life; my daughter’s life; our family’s life….Daniela was lying limp, unresponsive, unconscious and soaked in her own sweat. Little did I know then that this would be the first of many seizures for my special angel!
The hours and days that followed were a blur of many firsts…our first trip to the hospital emergency…our first hospital stay….our first understanding that something was wrong with our little one. How could this be happening to us?? What was to become of Daniela?? How serious is this?? Is this going to be life changing?? So many questions and so little answers!
As the days turned to months, the visits to the hospital emergency and overnight stays became routine. Daniela’s convulsive seizures were unpredictable, frequent and difficult to control, and sometimes lasting over an hour. We began learning the neurological lingo…myoclonic jerks, tonic – clonic seizures, status epilepticus, EEGs, postictal and, of course, the names of the long list of anticonvulsant medications and their potential side effects.
I began to learn all I could about Epilepsy and in particular the seizure diagnosis that was given to Daniela very early on in her life…..severe myoclonic epilepsy with associated generalized tonic – clonic seizures (not a formal diagnosis but one that just described her seizure types)…..Wow what a mouthful!! All I know is that her seizure disorder was debilitating and life – threatening…it had to be affecting her brain…would she learn to walk? to talk? to feed herself? what would her cognitive development be like? could she go to school?? would she learn her ABC’s? her colours? would she be independent?? Only time would tell what the impact on her life would be from all the seizures and all the meds. We learned to cope with the challenges of her seizure disorder by adopting the phrase ‘one day at a time’. There was no sense in getting ahead of ourselves.
You cannot explain your feelings when your child has a chronic illness like Epilepsy. What I would have done for it to be me having all those seizures. To see Daniela helpless and vulnerable knowing that she only wants mommy or daddy to be with her and make things all better. Our life changed!! With each new medication, with each new treatment plan, our family had to adjust….it became all about Daniela!
And adjustments to our life were made! We needed to hire a nanny since it was difficult to find a day care that would take Daniela with her unpredictable seizures; over the years, I went from a full time teaching load to only one – third; my husband and I would ‘tag team’ when Daniela had to be home because of her seizures so we didn’t put extra burden on our colleagues at work; there were many school meetings, case conferences and medical appointments which meant more time off work; and there were times when we would have to cancel dinners at the last second with family and friends because of her seizures, even opting out of Christmas, Easter and birthday festivities. At first we tried to be a ‘normal’ family but ‘our family normal’ was so much different than other families. We realized early in Daniela’s life that routine (waking, eating, sleeping) was very important to help control her seizures.
We never lost hope that ‘the next med would be the one’ but after many anticonvulsants (a total of eight different ones tried) some reduced her seizure frequency but never afforded complete seizure control. We tried whatever treatment plan was suggested…Daniela spent four years on the ketogenic diet (a very restrictive high fat / low carb diet) only to be weaned off the diet by putting her on an AED, lamotrigine, which made her seizures much worse. Thankfully, within a few months, her name came up on the waiting list for surgery to implant a vagal nerve stimulator…again, still very hopeful, that this may be the ‘magic treatment’ needed to help control her convulsive seizures.
For nearly two decades, we lived with Daniela’s intractable seizures, with no formal diagnosis for the catastrophic epilepsy from which she suffered. In December 2011, genetic testing revealed that Daniela had a mutation of an ion channel that is important in brain signalling…finally we had a name for Daniela’s severe form of epilepsy: Dravet Syndrome. Getting this formal diagnosis of Dravet Syndrome stirred up the initial feelings we had back in February 1993…we relived the emotions and we mourned again the loss of what ‘normal’ was to be. Immediately our thoughts went to ‘what did the future hold for our special angel with the diagnosis of this rare and life threatening syndrome?’ There was also my constant worry about SUDEP (Sudden Unexplained Death in Epilepsy). Even before the Dravet diagnosis, I knew that this was a very real possibility since Daniela had many of the risk factors but it became even more worrisome once Dravet was confirmed. I know many families that sleep with their child, myself included, so that they can monitor closely during sleep for SUDEP….death was not going to happen on my watch!! I began to learn all I could about Dravet Syndrome but this time used social media to reach out to other families living with Dravet.
With this new diagnosis came a better understanding of what we had been living with for almost the whole entirely of Daniela’s life. The Dravet diagnosis did not change the beautiful lovable young lady that Daniela has become, but it was now easier to understand the challenges that she faced with her intractable seizure disorder…why the first four years of her life were spent with many visits to the hospital emergency because of prolonged or status epilepticus; why any fever was a sure trigger for a seizure; why one of the AED’s, lamotrigine, had made her condition worse; why her speech and cognitive development were delayed; why she was diagnosed with Autism Spectrum Disorder at age 8; why the ketogenic diet and the VNS surgery bettered her quality of life; why depekane was always part of her anticonvulsant drug cocktail…… because we have learned that these are ‘typical’ in children with Dravet.
** Please note that the following paragraphs regarding ‘access to Stiripentol’ were originally written in March 2012. After much advocating by myself, Dravet.ca and CORD (Canadian Organization for Rare Disorders), Daniela did receive special access to Stiripentol by Health Canada in July 2012 and is presently still on this ‘dravet drug of choice’, along with her other seizure medications. Although she is dealing with some of the side effects associated with Stiripentol, I am happy to report that her seizure control is much better!! Fingers are crossed in hopes that her quality of life will also improve very soon!
With a diagnosis of Dravet Syndrome, there is hope of better seizure control for Daniela. An orphan drug, known as Stiripentol, has been found to be beneficial for individuals with Dravet Syndrome. It is not marketed in Canada but until recently (note – originally written in March 2012), neurologists could request access to Stiripentol for patients with Dravet Syndrome through a Special Access Program at Health Canada. However, we have been told, Health Canada has recently put a stoppage on this special access and no new Dravet patients can be put on Stiripentol. This information is devastating for my family…to know that we literally missed the opportunity to get access to this ‘Dravet drug of choice’ by mere months; if a diagnosis had been made just a little bit earlier Daniela could be on Stiripentol today! And, also, very frustrating to know that there are Canadian families whose children are receiving Stiripentol for their Dravet but my daughter is not able to get access of this medication in Canada. Shame on Health Canada!
I am continuing to ‘fight the fight’ to get access to Stiripentol for Daniela….those who know me, know I don’t take NO for an answer!
Recently (note – again, originally written in March 2012), a potential avenue has opened to allow my family to buy Stiripentol in the United States. It seems like a ‘covert drug operation’ but I am willing to do whatever is needed to get this ‘Dravet drug of choice’ for my daughter…no matter the cost!!
And the financial cost is staggering…possibly $1000 per one month supply of Stiripentol, but I am also worried about the burden of repeated visits to the US every month and the toll this will have on my family; the ‘unknown’ at the border crossing…do I disclose that I have this medication and what the repercussions might be; and most importantly, being the primary care giver for my daughter, I worry about being away at a crucial time…what if she was hospitalized, and it was time to get her prescription refilled? I’d have to leave her side in the hospital to go pick up her medication in the US…and because I can’t get travel insurance for my daughter, the option of her and my husband accompanying me is not possible. My husband and I are already overwhelmed with living day to day with Daniela’s chronic seizure disorder… I do not need another burden to worry about, especially when some Canadians diagnosis with Dravet Syndrome do have access to Stiripentol locally.
We are very anxious to get Daniela started on Stiripentol….this could be ‘the one’ that improves her seizure control and ultimately improves her quality of life. Every day that she does not have access to this drug is another day when she could die of SUDEP or have a fatal injury or accident during a seizure. Getting the best possible seizure control is the key to reducing Daniela’s risk of SUDEP and accidental death. If Stiripentol can help prevent Daniela’s convulsive seizures then she should absolutely be given the opportunity for access to this medication in Canada. We are waiting very patiently to see if and when the possibility of accessing this medication from the United States will happen and when the script is ready for pick up, I will be ready to go! As long as there are new seizure medications and treatment options available for Daniela, there is always HOPE!!
But let me make myself perfectly clear, I have not given up lobbying for special access of Stiripentol in Canada…every Canadian living with Dravet Syndrome, including my daughter, deserves to have a access to Stiripentol locally! (note – Daniela was granted special access in July 2012)
My husband and I have always held onto the words of Daniela’s first neurologist who said in a letter that followed her into the school system, “Daniela is a young girl with great potential ready to be realized with the appropriate supports in place”. All of our efforts and advocacy for Daniela have focused on the adage ‘It truly does take a village, to raise a child!’
Our hope for our daughter is just like other parents…that she grows and learns and reaches her full potential, and is an active and productive member of an inclusive society….that she is treated with dignity and respect and kindness ….that she not be defined by her disability but by her abilities….and that all her wishes will come true!
With better seizure control, our dream for Daniela is simple… gain some independence so that an adult is not always in her shadow needed for safety and support….she could finally just walk around the block with her dog or go for a bike ride or a swim or a skate without mom and dad hovering so closely….and wouldn’t it be wonderful to take my family on a long awaited first vacation to Disney World, where Daniela could finally just be a kid!
…..taking just one day at a time!!
(originally written in march 2012)
Fast forward 20 years since that fateful day…..February 10, 2013
Today it hit me ….. 20 years we have been living with the daily challenges of Daniela’s seizure disorder – Dravet Syndrome. I often wonder was it better that Daniela was not diagnosed with Dravet Syndrome as an infant. The confirmation of her diagnosis was heartbreaking but it did not change who Daniela was! I had to remember that and be reminded that she is a beautiful young woman in spite of the Dravet. And I am reminded of her special gifts everyday…her innocence, her unconditional love, her undying spirit, her resilience (even after her many clusters of seizures) and most important her joy of life … be it feeding her dog, Zachary; doing endless hours of homework; her love of reading; her Friday routine of Tim’s and library with her dad….the simple pleasures of life that most parents would not think to be so special. But watching her live life is absolutely special!!
I hear these new moms with their young children, frantic, frustrated and stressed living through the worst of Dravet and always wondering the uncertainty of the future for their special child. As parents, we all dream of the best for our children, but parents, who have children with Dravet, can only pray that their child lives to see adulthood. The literature about Dravet Syndrome is devastating….rare, severe and catastrophic form of epilepsy…how do parents move forward and stay positive knowing that is describing ‘their child’?
Twenty years, Daniela did live through the worst of Dravet…..the many bouts of status epilepticus….the many trips to the emergency….the frustrations of the side effects of trying new anticonvulsant medications (and there were many!)…the strict regime of the ketogenic diet….the countless doctors and specialists appointments….the long overnight hospital stays….the vials and vials of blood taken….EEG’s, MRI’s, VNS surgery (presently waiting for replacement surgery) …and, of course, the unpredictability of her seizures!
And what about sitting through countless school / board meetings and case conferences with sometimes 10 or more ‘education experts’ at the table, all thinking they knew what was best for Daniela. But we were consistent with our message….always advocating for the best possible learning environment, teacher, support worker, classroom, anything and anyone that would be able to help our special daughter reach her full potential. We did not want to hear what Daniela could not do but what could she do!! We always wondered if our input was really appreciated and if we were really ‘partners’ with the school or were we only seen as the ‘parents from hell’?
And over the years, all the paperwork!!! …endless, daunting, and exhausting!!!
The personal toll of Dravet on our family, it has impacted my relationships with my husband, my family and my friends. It has become all – consuming! ‘Life with Dravet’ gets in the way of living sometimes! It takes a lot of strength, effort and faith to stand united and stay strong and persevere forward….but some days Dravet gets the best of me!
As Daniela moves into the future as a young adult, only time will tell what it will hold for her but for sure my husband and I will be there to support her every step of her journey… taking it ‘one day at a time’.
Our dream, our wish that our hearts make is no more seizures for Daniela!