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Dravet Syndrome | Seizures in Children | Our Stories
Each of our loved ones with Dravet syndrome has a story worth telling. If you would like to share your story with us, please contact kim.s@idea-league.org
| Ryan |
Delilah |
Luke |
Laura |
Angelina |
Sergio |
|
Aiden |
Amelia |
Daniel |
Sarah |
JJ |
|
| Haley |
Jordan F |
Reed |
Sean |
RYAN of Georgia
Ryan was born December 22, 1998. He was a full term baby. He weighed 8lbs 9 oz. Ryan lived his first 8 months of life as normal as any new baby. He was reaching all his milestones, sitting up, rolling, laughing, etc. He was eating well and cutting teeth.
August 4, 1999, was the day that would change our lives forever. Ryan had his first seizure. It was the longest 5 minutes of my life. The hospital ran some tests and determined that he had a virus. They told me that he had had a febrile seizure, in other words, a seizure with a fever. More than likely he would not have another seizure. Between August 1999 and January of 2000, Ryan had 5 more seizures, all due to fever.
At the end of January of 2000, Ryan had a seizure without a fever. He was then put on his first Anti-convulsant medicine, Phenobarbital. This began a long road of hospital stays, emergency room visits, a long list of failed medicines, Keto diet and VNS implant, and thousands of seizures. Many seizures lasted more than 10 minutes and sometimes even 1-2 hours. Ryan seizure triggers included, heat, illness, glare from the sun, over excitement. Ryan continued to reach all his milestones up to the age of 3 years old. Unfortunately, his seizures got worse, he regressed.
In March of 2007, Ryan is now 8, we decided to run some tests to see if Ryan would be a candidate for surgery. They did all the pre-surgical testing. I received a call from his doctor to let me know that he was not a candidate for surgery, he has Dravet syndrome. His seizures are coming from all over his brain. There is no cure. Ryan was going to need a lifetime of care. Since Ryan's diagnosis of Dravet Syndrome, he has also been diagnosed with Autism Spectrum Disorder, Obsessive Compulsive Disorder, Sensory Integrative Disorder, developmental delays in speech and with gross and fine motor skills.
Ryan still continues to have seizures almost every night while asleep, nocturnal seizures. He now functions at a 3-4 year old level. Still does not read or write. But he is a happy child that wants to explore everything. He is a typical boy in all means. Our travels have not been easy, but the road is one that we live each and every day. He teaches us that life is short, thus we should live each day to its fullest. Our dream is that one day there is a cure for Dravet syndrome and not another sweet child is lost. Thank you for your support in finding a cure for Dravets.
DELILAH of California
On Valentine’s Day 2004, we were given the most beautiful gift anyone could ever behold: our first child, a healthy 7-pound baby girl, born without incidence or complications. A good baby from the beginning, Delilah impressed us all with her quick development and easy-going attitude. At five months, she was exceeding all of her milestones and drew many compliments on her seemingly older spirit.
This would all change on August 3, 2004, when at almost six months of age, Delilah endured her first tonic-clonic status seizure. She seized for over an hour. Nothing will ever erase the feeling of sheer desperation and fear we endured as we watched doctor after doctor, nurse after nurse, and specialist after specialist attempt to stop the seizure. Finally, a large dose of Ativan was injected into her shinbone; this was after having already been given 3 large doses of Valium. Once the seizure was quelled, she required intubation because she could not breathe on her own due to over-sedation. We remained in pediatric intensive care unit for five days. All subsequent tests were normal and we were sent home with the hope that this was just a one-time event. Unfortunately, that seizure would be the first hurdle in our new path.
Delilah’s condition was undiagnosed for the first three years of her life. During that time the seizures worsened and did not respond positively to any of the first line medications used for intractable epilepsy. We were challenged to find adequate help for her. She soon began developing other seizure types, having hundreds and hundreds of seizures per day. She increasingly became weaker and more developmentally delayed. She was nonverbal, communicating only with screeches and squawks. Frequent seizures were beginning to ravage her body, creating more gross motor delays and weakness. In September 2006, after being failed by six different drugs and maxing out on another, we were finally allowed to begin the Ketogenic Diet. On the recommendation of one of her neurologists, Delilah was tested for a mutation of the SCN1A gene, an indicator of sodium channel epilepsies. Three months before her third birthday, Delilah was diagnosed with Dravét Syndrome.
Currently Delilah enjoys fair seizure control, averaging about one to two tonic-clonic seizures every month, and all lasting a minute or under. Thankfully, she has not had a status seizure in almost three years. However, she is plagued daily by myoclonic jerking and absence seizures interrupting her life and learning. Despite this, Delilah’s champion spirit continues to prevail and progress.
Thanks to the Ketogenic diet, Delilah is now a very chatty five-year-old. With the exception of mild articulation delays, Delilah speaks in full sentences and is quite adept at the bargaining table. We continue to address her gross motor delays with various forms of physical therapy and approach her care from a more holistic standpoint. Delilah loves to read aloud, paint, ride her bike, play pretend, procrastinate, pillow fight and swim among many other activities. She also enjoys kindergarten, and while she finds schoolwork “boring” she loves playing with her new friends. We love her very much and are dedicated to finding a cure for her and all of our Dravét brothers and sisters. Thank you.
LUKE of Australia
Luke was 6 ½ months old when he had his first seizure. It was the day after a routine vaccination. The seizure began as a twitching in his left arm and a strange smile on his face. It quickly progressed into a full body tonic-clonic seizure which lasted over 10 minutes. This frightening episode marked the beginning of extremely difficult-to-control seizures, many hospital stays and much heartache. It also marked the beginning of a completely different outlook on life and the future for us as new parents.
After an MRI and 3 EEGs, a genetic test confirmed the diagnosis of Dravet Syndrome. Luke was 1. Today he is nearly 4. He has had many different types of seizures and to date, has tried 7 different medications and combinations. Twice this year Luke has had to be intubated and placed into induced coma to help stop status seizures lasting over 4 hours. He has also endured emergency surgery to remove a vocal chord granuloma, a direct result of one of these life-saving emergency procedures.
Luke has some language delay and yet despite all the obstacles, he is a very happy little boy. He attends a special pre-school, adores Dora the Explorer, playing on the computer, watching the golf and throwing balls into holes! He is our absolute pride and joy. At the moment, we are eagerly awaiting Luke’s seizure alert dog which will undoubtedly be a major turning point in all our lives.
LAURA of the UK
Laura was born in November 1999. She was a delightful addition to our family and although our 10-year-old son was not keen at first to be having a baby in the family, he was soon won over by his little sister.
Laura was 4 months old when she had the first of many seizures. Initially Laura was diagnosed with complex febrile convulsions as her seizures were hemi-clonic (one sided) and could last for hours, both of which are unusual for simple febrile convulsions. When she started to have afebrile seizures and complex partial seizures at 8 months of age, her paediatrician diagnosed her with left temporal lobe epilepsy. By 10 months old she was on 4 daily anticonvulsant medications (clonazepam, phenytoin, valproate and carbamazepine), and was still uncontrolled and showing signs of developmental delays. She slept for 18 out of every 24 hours and had to be woken for feeds.
By 24 months of age she was having upto 1000 absences a day brought on by everyday patterns such as stripes, nets and even writing in books. She still had prolonged febrile convulsions and had had three episodes of respiratory arrest during her seizures. She still did not have a diagnosis that matched her history. We also had not even seen a qualified paediatric neurologist.
I had for some time suspected Dravet syndrome/SMEI, and managed to get a library to photocopy a chapter from a medical book which described SMEI. It convinced me further that Laura had Dravet syndrome and I felt the need to get her seen by someone who knew something about this disorder. I wrote to Dr Charlotte Dravet at the hospital named in the medical book and asked her opinion and importantly asked her if she knew of a Dravet syndrome expert in the UK. She said that she felt Laura did indeed have Dravet syndrome and referred me to her colleague, Professor Renzo Guerrini, who was in London at that time in early 2002. He confirmed Laura’s diagnosis.
I have stayed in contact with Dr Dravet since then and with her support helped to set up and run a support group for Dravet families across the world.
Laura will soon be 10 years old. Her seizures are now reasonably well controlled, thanks to us having a good paediatric neurologist who put Laura on medications suitable for Dravet syndrome when he started to see her after our consultation with Pr Guerrini. However, due to her bad start and delay in diagnosis, Laura now has brain damage and still functions around the age of an 18 month old toddler. She has no speech, behavioral problems and needs 24 hour care. However she is happy when playing outside with water and gives the most amazing hugs and kisses.
ANGELINA of Pennsylvania
Angelina was 7 months old when I noticed her first grand mal Tonic Clonic seizure; or as the Doctors tell me, it was the first one I "caught." After all 3 kids (we have 3 other children) got ready and were off to school, I decided to check on Angelina who was sleeping. As I walked into her room, there she was in her crib having a seizure. Little did I know that my world would be changed forever? By her second birthday she was having hundreds of seizures. Some were brief, many others would last over 30 minutes and our local EMS was called to our house often.
December of 2007 – Angelina suffered a four-hour epileptic seizure that doctors could not halt until Angelina’s heart stopped. We spent from December 2nd through December 26th in Children’s Hospital of Pittsburgh. The holidays were very difficult and different. We made the best of our situation and I hope it made our children stronger as well as more compassionate toward other people.
After the doctors could not explain the high number of the seizures, especially the four-hour life threatening heart-stopping episode, they ordered very detailed and expensive genetic DNA testing. Finally, after being in the PICU for so long we got some answers. Unfortunately, the answers were devastating. Angelina was formally diagnosed in January 2008 with an intractable form of epilepsy called Severe Myoclonic Epilepsy of Infancy (SMEI) or Dravet syndrome.
Dravet syndrome is caused by a genetic mutation that alters the way the brain cells conduct electricity leading to severe seizures. There is no cure and Angelina will not outgrow her seizures. Dravet is not an inherited form of epilepsy; the mutation “just happens” at conception. Afflicted children suffer a poor quality of life from seizures, developmental regression, sleep disturbances, orthopedic problems and other issues.
Angelina has two neurologist that help her, one at Children’s hospital of Pittsburgh and one at Chicago Children’s Memorial Hospital.
I quickly had to gain the strength and courage to understand Angelina’s diagnosis and manage it, while balancing the emotions of our three other children. I had to take Giant steps in getting Angelina all the help that she needed and deserved. I strongly believe in early intervention and intensive therapy. There is no time to wait. What happens today may have a direct impact on the rest of her life. We have no idea about the challenges Angelina will face. Will we be left guessing if she’s hungry, thirsty scared or just frustrated? Do not accept a waiting list. I continually try to reach-out, research and press forward on behalf of my innocent, but unfortunate, daughter. She hit the lottery in reverse. It is not easy, but through the grace of God and love for my Angelina and the other children, I do it.
Initially, I had to take baby steps. There is no “blue-print” for such a rare condition. I can not change what Angelina has, I can not fix it – IT IS WHAT IT IS.
What I can do is make Angelina be the best that she can be. I can also strive to raise my 3 other children to be compassionate, strong and accept people for who they are, looking for the good in every situation of life. It is full of surprises, both good and bad.
No parent should ever hear what we were told. The initial genetic team repeatedly said “Go home and grieve, you lost your perfect child.” I am turning that grieve into motivation to help my child as well as other disabled children. Through love, faith and hope, I believe that anything is possible.
God has given me the much needed Grace, Strength and Comfort through my child’s disability. Through time, I hope to gain peace and joy, even though circumstances in our life do not make sense causing our world to turn upside down.
SERGIO of Spain
Sergio nació el 4 de agosto del 2003, actualmente tiene 6 años cronológicos, aunque se edad de desarrollo se sitúa entre los 2/3 años.
Fue un año muy caluroso el de su nacimiento y se retrasó 7 largos días. Es un niño precioso y muy grande pues pesó al nacer 4,050 kg. y una talla de 51 cm.
Todo fue normal hasta que con 3 meses y medio apareció su primera crisis generalizada en medio de un proceso febril. A los 7 meses tuvo su segunda crisis, también con fiebre. Y de ahí hasta los 12 meses tenía 2-3 crisis todos los meses, siempre con fiebre. En ocasiones sus crisis le afectaban a un hemisferio del cuerpo (brazo y pierna izquierdos, o bien brazo y pierna derecha) aunque normalmente terminaban generalizándose. En varios episodios tras la crisis sufría parálisis de Todd (parálisis muscular que en algunas ocasiones llegaba a las 2-3 horas). En este tiempo se le puso tratamiento con depakine y fenobarbital.
Como el tratamiento no era efectivo, decidieron retirarle el fenobarbital. Justo a la semana que cumplía 12 meses tuvo su primera crisis afebril de 45 minutos tónico-clónica con parálisis de Todd. A la semana tuvo otra crisis que consistió en desviación de mirada, pérdida de tono muscular y caída al suelo. Se le añadió Tegretol al Depakine pero las crisis se repetían con una frecuencia de 2-3 semana. Se retiró tegretol y se añadió noiafren. Sergio comenzó a andar a los 15 meses pero de forma totalmente descoordinada, estaba muy alterado a causa del noiafren. A los 16 meses se añadió lamotrigina pero las crisis se incrementaron, se le retiró a los 17 meses y se introdujo topamax. Poco a poco y a medida que fueron ajustando la dosis del topamax, las crisis fueron cediendo y finalmente en mayo del 2005 conseguimos más o menos estabilizarlo en cuanto a estas crisis se refiere. El tratamiento consistía en (depakine-topamax). Pero ese año habían comenzado otro tipo de crisis que consistían en parpadeos en ocasiones con los ojos fijos en un punto y leve cabeceo. Estas crisis podían pasar desapercibidas para aquellos que no tuvieran conocimiento de su patología, podía parecer que tenía sueño. No fue hasta marzo de 2006 que tras un estudio de 24 video-eeg nos confirmaron que se trataban de mioclonías palpebrales con o sin ausencias. La frecuencia de estas crisis era muy alta, podía tener más de 100 al día, incluso tener desencadenantes como la frustración, stress, esfuerzo, concentración, cansancio…. Para intentar controlar estas crisis que le impedían llevar una vida normalizada se probaron nuevas combinaciones, dieta cetógena, rivotril, keppra… La frecuencia ha sido variada a lo largo de estos años, pero en ningún momento ha habido un control total sobre ellas.
A lo largo de estos años ha tenido varios status alguno de ellos de más de 2 horas de duración.
En el momento actual (6 años) no está controlado pues las mioclonías palpebrales siguen persistiendo a pesar del tratamiento y las crisis generalizadas se suceden con una frecuencia este año de 1 cada dos meses.
Acude a un Colegio de Educación Especial y recibe terapia de logopedia, estimulación, clases de piscina y equitación.
Actualmente su tratamiento consiste en (depakine, topamax, keppra y carnicor).
AIDEN of Minnesota
Aiden was born on November 11th, 2005. His brothers, Owen (then 3 ½) and Alec (then 2), were so excited to meet him, and immediately included him in all of their escapades. He smiled early, rolled over, sat up, crawled, and stood up on time, and was a delight to the family. Everything was going smoothly, and our family was complete and happy.
Then he had his first seizure at 11 months. He was excitedly playing with his brothers on the bottom two stairs before going up to bed. They were all laughing and boisterous, but when I turned my head to check the time, one of those voices went silent. I looked down and he was convulsing at my feet. The whole night after that seems surreal. Aiden was completely blue in the ambulance, was placed in a coma in the ER and intubated, and when they woke him up the first time, he was still seizing. By the time they woke him up again an hour and 40 minutes later, he did not appear to be seizing, but was so drugged out he was completely unconscious. All of the tests they ran in the days following came back “normal,” and we were sent home with no explanation and the reassurance that a). this would likely never happen again, and b). seizures do not occur during sleep, so we need not worry about him at night. To our delight, he learned to walk the week after this awful seizure, so we believed the doctors and went on with our lives.
A few weeks later he had another seizure, and another a few weeks after that. By the third one we were sent home with rectal Diastat to stop any further seizures and he was placed on Keppra, an anti convulsant. The Diastat seemed to work most of the time, and the seizures spaced out to every few months, usually when he was coming down with a cold. They did, however, often occur in his sleep. Despite a convulsion monitor under his mattress, we were not always warned a seizure was occurring. Sometimes we slept in shifts, sometimes he slept with us, and sometimes he slept alone and we woke to him seizing over the baby monitor, not knowing how long he had been seizing.
He was a smiley, cuddly, happy little boy, and aside from the seizures our only worry was that he didn’t begin talking at 18 months. We gave him the benefit of the doubt figuring his brothers were talking for him, and didn’t worry too much until 24 months, at which time he began speech therapy. He was meeting all of his other milestones, so we just labeled it a speech delay. After 26 months, we wondered if his meds were causing the lack of speech and added a new med (Lamictal) in hopes of eventually weaning the Keppra. The next 6 months saw his highest seizure frequency and our worst new battle: photosensitivity. Aiden began having various types of seizures, some of which were caused by sunlight, fluorescent lights, excitement, and movement. His neurologist was convinced that Lamictal was the best treatment for photosensitivity despite graphs and charts I made showing his increasing seizure frequency. Finally, after 6 months, I demanded he be taken off Lamictal against the neurologists’ advice, and his seizures decreased in frequency, though he never went back to his pre-Lamictal frequency and the photosensitivity remains.
At this time he was seen by a metabolic specialist at the Mayo Clinic in Rochester, MN for various issues. All of her numerous tests (including a spinal tap) came back negative, and she ordered a genetic SCN1A test as a “last resort.” Despite the fact that this came back with a missense mutation shown to cause Dravet Syndrome in another child and his clear clinical picture, our neurologist adamantly insisted Aiden was too “developmentally normal” to have Dravet Syndrome. At this point we sought two second opinions, both of whom suggested Dravet syndrome. Aiden was diagnosed at age 3.
Since switching neurologists and receiving the proper diagnosis, Aiden has had a difficult road. He has the most beautiful curly hair and gorgeous blue eyes. He is loving and cuddly, and always has a kiss and a hug for anyone who asks. However, he is plagued by daily seizures that invade his life. He has atypical absence seizures due to light, motion, excitement, or anything that makes him nervous or happy. If he is enjoying himself too much and is laughing and excited, he will likely have a small seizure, and often a larger tonic clonic one. He wears specially made goggles and glasses (and often a patch over one eye), but he still cannot go outside or in fluorescent lights due to his pervasive photosensitivity. We make calculated decisions every day to try to maximize his experiences and quality of life while minimizing his seizures. Sometimes the game of chase outside is worth the inevitable seizure, and sometimes it is not.
He tries to speak and has the sweetest “Aiden talk,” but it is only understandable to my husband and me. He loves to play cars and drive trains, perhaps because he is most stable while seated on the ground. His balance is quite off and he falls and injures himself often. He cannot walk more than 20-30 feet without tiring, but loves to try to run and chase his brothers.
Despite all of his challenges, he is the strongest, bravest, gentlest little boy I have ever met. His personality is absolutely captivating, and he has the gift of making everyone think they are special in his eyes (and they are!). He is such a sweet snuggler and so loving to his family – his “neck hugs” are absolutely priceless. He wraps his chubby little arms all the way around your neck and presses his face against your shoulder, and any battles you’ve had that day melt away.
My hope for Aiden is that he keeps his loving personality and remains happy for as long as he lives. We don’t know what the future holds and hope things get better, but are grateful they are not worse. Aiden adds so much spunk and love to our family!
AMELIA of Utah
Amelia was born on May 20, 1994, five weeks early and only 4 lbs. 8 oz. but otherwise perfectly healthy. She came home 48 hours later and all was well until two days before she reached five months of age. Suddenly, something was very wrong.
I was sitting on the couch, breastfeeding Amelia, when I noticed a rhythmic jerking sensation. I picked her up to see that her left arm was twitching, the hand a closed fist. Other than that she seemed fine. She was looking at me and smiling. I watched her for a while wondering what was going on, but she seemed so otherwise normal that I did not panic. When the event was over (it lasted about 15 minutes) I called my sister-in-law, who had been an EMT, and asked her what she thought might have happened. She was unsure, but suggested that it could have been some kind of seizure. She said if Amelia ever did it again I should take her straight to her doctor.
The next day, at almost the same time, she did do it again. Only this time it was wasn’t her left arm that was jerking, it was her right. And she wasn’t looking at me and smiling. Rather, her head and eyes were deviated to the side and she was completely unresponsive. She appeared catatonic. I rushed her to the pediatrician. This seizure lasted about 20 minutes and she didn’t come around until toward the end of the doctor’s visit.
Such was our introduction to epilepsy. Over the coming months and years, Amelia developed many seizure types, regularly having hundreds—even thousands—of myoclonic seizures each day. Her development slowed. The ketogenic diet was the only treatment that impacted her seizures, but she developed a food aversion and we were forced to discontinue it. When she was three years old, my research led me to a condition known as Severe Myoclonic Epilepsy of Infancy. I immediately took this diagnosis to her neurologist. He mused over it, but was non-committal, stating that her development was too good for SMEI and that she didn’t have the described nocturnal seizures.
Within another three years, Amelia’s development had almost completely stagnated, her seizures, on many days, were nearly constant and she had begun to have nocturnal convulsions. It wasn’t until her sixth birthday that a neurologist—French physician Jean Aicardi, the 4th specialist we had consulted—formally diagnosed her with SMEI, now known as Dravet syndrome.
Amelia still has hundreds—even thousands—of myoclonic seizures nearly every day. She also has frequent tonic-clonic (grand mal) seizures, atypical absence seizures, and several other types thrown in for good measure. All despite trials of 28 different treatments. Though she is 15, she functions at about the age of three or four. She is an extremely sweet girl who believes in and immediately loves nearly everyone she meets (and they love her). We adore her for exactly who she is, but we would desperately like to ease her struggle. We are grateful to be a part of the IDEA League and for the huge strides we are making together to increase recognition and understanding of this challenging condition and to improve the outcomes for our children.
DANIEL of Florida
Daniel was born February 8, 2009. He was a full term baby. He weighed a whopping 10 lbs. I didn’t have any problems with pregnancy or the delivery. He seemed to be doing just fine until one Sunday morning after church. We had just gotten home and I went around to get him out of the car. I noticed his left arm was jerking repeatedly. Since I have worked in the medical field for some time I immediately knew he was having a seizure. Since we were just a few minutes away we rushed him to the emergency room. It turns out this was his first febrile seizure (seizure due to a fever). He had ear infections in both ears and had a temp of 102 F. The Dr. called his seizure a complex partial. It lasted for about 45 minutes. He was only 2 ½ months old at this time. We were so scared for him.
The Dr. put him on Tegretol-the first of many anti-epileptic drugs. His seizures continued over the next few weeks, (with and without fever) we had several ER visits, and one ICU stay. When he was about 6 months old he went into a status seizure. It just kept going and he couldn’t breathe. The most difficult time for us was when the nurse brought out his little outfit to us. They had cut it off him to treat the seizure. That was a very difficult moment. We didn’t know if he was going to make it. He almost had to be put on a breathing machine because he wasn’t breathing enough on his own. When they got ready to put it in though he fought back and woke up enough that his breathing improved and they didn’t put it in. We were so relieved. This was the first of many ER visits.
He has been on many different medications: Tegretol, Phenobarbitol, Dilantin(which he had a toxic reaction to ), and many others. None have been successful in treating his seizures.
Between May of 1999 and October 2004, Daniel had many more seizures every day. He has as many as 50 -100 a day (these are little eye flutters which were shown to be seizures on EEG). Some seizures were triggered by fever, others were not. Any time he started to get sick with a cold or virus he would have more seizures. He has had to endure many blood tests, spinal taps, EEGs, video EEGs and other tests. He is always a real trooper and very brave. As Daniel grew older his seizures changed. He still has complex partials, but also tonic-clonic (grand mal), and myoclonic seizures.
In August 2004, we had a VNS (Vagul Nerve Stimulator) inserted in Daniel’s chest and neck. At first it seemed to help stop the seizure if we saw if first happening. We would swipe a magnet over his chest and it would send a signal up his vagul nerve to hopefully interrupt the seizure. After 2 years in 2006, he had to have the surgery again to replace the battery. That lasted until March 2008. He was having more and more seizures, but was also having a lot of strep infections. In March 2008 he had his tonsils and adenoids removed. The day after the surgery his seizures went crazy. Apparently the battery was dying before and the surgery completely depleted it. We were undecided about replacing it. We weren’t sure if it was really helping much anymore. After much thought we did replace it. It has not been that effective lately and was certainly not keeping the seizures away.
In October 2004 Daniel was now 5 ½. We decided to try him on the ketogenic diet. This is a high fat low carb diet. He was put in the hospital for a few days to get his brain to start making ketones that would act as an anti convulsant medication. This involved at least 24 hour of fasting, with only water to drink. This is a very rigid diet. He was seizure free for about the first 5 months, and then started gradually having more seizures again. After 3 years of trying we had to stop the diet because it was no longer working for him at all.
In 2006, after the recommendation from our neurologist, we took Daniel to the Miami Children’s Hospital for a surgical consult. We were told that he was not a candidate for the surgery. We came back home and continued trying different medications. At this time they tried him on Clobazam, Tompimax, and Keppra, Clonazepam, Lamictal to name a few. He was still having many seizures a day.
In May of 2008 we took Daniel to the Cleveland Clinic in Cleveland, Ohio. The Dr.’s there did a week long video EEG to see what type of seizures Daniel was having. As usual he had plenty for them to see. He has at least one to three seizures a night. Most lasting over 5 minutes and has to be given Diastat to stop them. They were able to see that he is having 3 types of seizures every night. He is also having abut 50 -100 small seizures during the day (these are usually seen as small eye flutters). They put him on a new medicine called Zarontin. There was an immediate improvement. They also lowered his dose of Lamictal in half. They did many tests while we were there, including MRI, Pet scan, blood work, and genetic tests.
All Daniel’s tests were normal except for one. The Dr. called to tell us that Daniel tested positive for the SCN1A gene mutation. Then Erick and I were tested to be negative for this genetic defect. So we now have a diagnosis for Daniel after 10 years of looking and hoping.Daniel has a severe form of epilepsy called Dravet’s Syndrome. There is no cure. Daniel will continue to need a lifetime of care. The seizures will not go away. Somehow we were relieved. We had a diagnosis at last. Having this diagnosis means knowing what medications to stay away from. We learned that one of the meds he is currently on Lamictal, is known to make seizures worse in children with Dravet’s. He is now almost off of it completely. Right now the Zarontin has made a huge improvement in Daniel’s life. His seizures are mostly at night with very few during the day right now. There are some other drugs that are known to be helpful to these Dravet children, but they are very expensive. They are Stiripentol and Clobazam. They are only available thru a pharmacy in Canada or from France directly. In November 2008 these drugs were given Orphan status here in the U.S. and are awaiting FDA approval. This may take some time.
Daniel has severe developmental delays and some autistic symptoms. He is 10 years old but with the mental abilities of a 4 year old. He is verbal but does not have good comprehension. He needs watching 24/7 days a week. He cannot be left alone ever. He gets some Speech Therapy and Occupational Therapy. He has been diagnosed with very lax joints all over his body. He wears orthotic boots on his feet to help him walk.
We have found the support of the IDEA League. We have learned so much from other parents of children with this illness. We hope to also spread awareness of this disease so that other children might benefit from what we have learned. To promote this organization is to help other children get the proper attention.
Daniel has a wonderful big sister whom he loves very much. She is almost 14 and in high school now. He has two great cousins who he loves to visit and sit by during church. He has great aunts and uncles, grandmas and grandpas. He loves all his friends at church and greets everyone as they come in. He always answers you with a “You said it!!” His sister Alena has had a lot to go through growing up with a brother with a chronic illness. She has been a huge help to us in many situations. It is hard for her, but she loves her brother very much and really helps him a lot. We are very blessed to have both of them in our lives. God has a purpose for us all and we think Daniel’s is to make people smile! He lights up a room and is almost always happy. He has touched so many people and we hope this story touches your heart as well.
Thank you for taking the time to read Daniel’s story. Please forward this webpage to all your friends and family. We hope to raise awareness about Dravet’s Syndrome so other children can get diagnosed earlier and get the right treatments.
SARAH of Texas
I would like to introduce you to a very special little girl. Sarah is a sweet, affectionate child who loves to play and gives hugs to anyone she meets. At the age of six months Sarah started to have seizures. By her second birthday she was having hundreds of seizures every day. Although most were brief, many would last over 30 minutes and our local EMS was called to Sarah’s house often. At one point she stopped breathing and had to be taken by helicopter to the nearest Children's hospital. She stopped speaking and began to have trouble walking without falling, a condition called ataxia. Sarah was examined by doctors all over Texas and even had to spend her 2nd birthday in the hospital. Despite seeing several very respected child neurologists, we still did not know why Sarah was having so many seizures. We tried 12 different antiepileptic medications with very little improvement.
Finally, when Sarah was 2 1/2 years old we found a doctor at Chicago Children's Memorial Hospital who had the answers. Sarah was diagnosed with an intractable form of epilepsy called Severe Myoclonic Epilepsy of Infancy (SMEI), or Dravet Syndrome. Dravet syndrome is caused by a genetic mutation that alters the way the brain cells conduct electricity leading to severe seizures. There is no cure and Sarah will not outgrow her seizures.
In August 2005, Sarah started the ketogenic diet. This is a medically prescribed high fat/low protein and carbohydrate diet that creates a fasting-like state in the body. When the body burns fat for energy instead of carbohydrates, chemicals called ketone bodies are generated. Ketone bodies suppress seizure activity in the brain. We saw a dramatic reduction in the number of seizures Sarah experienced. After approximately two and a half years on the full ketogenic diet we were able to wean Sarah to the less restrictive Modified Atkins Diet. Sarah is able to enjoy greater control over what and how much she eats, while still maintaining ketosis.
Shortly after starting the diet, Sarah's doctor also prescribed two new antiepileptic medications that are currently not approved by the FDA. These medications have been studied in Europe by Dr. Dravet after whom the syndrome is named. Sarah currently experiences 10 to 20 seizures per month but they are brief, lasting one minute or less and EMS has not had to come to our house in over 3 years. She is speaking in full sentences and has been able to learn and develop almost normally. She still has ataxia and falls often and has delays in fine and gross motor skills.
Despite everything we have done, Sarah could still have a seizure at any time of the day or night and must be under direct supervision at all times. This makes it very hard for Sarah and her family to do many of the things others take for granted. As her parent, my biggest fear is that she will have an undetected, prolonged seizure while sleeping that could lead to brain damage or even death.
In May 2008, Sarah and her family spent 2 weeks in Ohio at the 4 Paws for Ability training center learning how to work with a seizure-response dog trained to respond to Sarah's seizures. These dogs undergo rigorous training starting as puppies. Sarah’s fully certified service dog helps her walk without falling and injuring herself. He accompanies Sarah every where --to school, the hospital, and even on airplanes.
The IDEA League has been a huge help to our family as we have learned to cope with having a child with Dravet syndrome. I look forward to supporting the League’s efforts to help families and find a cure for years to come.
JJ of Kansas
Jacob Jerome ‘JJ’ Krentz was born May 8,2004. JJ was born 5 weeks early, weighing 4lbs 13oz, 181/2 in long. Right after birth he was taken to the NICU. Although small, JJ was healthy and only stayed in the NICU for 6 days. We brought him home looking forward to our new life with our first child, our angel, JJ.
December 29, 2004. The day our lives changed forever. I will never forget any part of this day but I will always wonder why the Chaplin met me at the Emergency Room door? We heard the Ambulance pull up with lights and sirens; JJ came in on a stretcher and wasn’t moving or crying, he was ash grey, an IV and Oxygen going. JJ looked like he was gone. A few minutes later the Chaplin told me she would take me to JJ but to be prepared, there were a lot of people in the room and were getting ready to do a spinal tap. I was not prepared for this; not for this day or the many more to come. JJ wasn’t moving, I kept asking why he wasn’t moving or crying for that matter. (Apparently JJ’s O2 rate decreased to 7% during the seizure.) No one would answer. The rest of the afternoon was like a fog, I felt as if I was watching everything that was happening from an out of body experience.
When JJ was finally stabilized the Doctor explained that he had suffered a prolonged seizure (45 minutes) and they were searching for a cause. They ran all kinds of tests, x-rays, a head CT, blood work etc. Everything came back normal. We were grateful but scared. The doctor explained that many children have seizures, normally caused by a fever. Our hopes were it would be a one time event, although I felt in my heart there was more to what had happened
February 3, 2005. I had given JJ a bath and was getting him ready for bed. It happened again. The EMT’s showed up, it seemed like forever and he was still seizing. They started an IV and said they needed to leave ‘code red.’ That night in the ER JJ had another seizure. It was decided to transport him to the Pediatric ICU. We all have moments in our lives we feel helpless but having a sick child is a very lonely place to be. JJ had several more seizures in the hospital that night. My heart was breaking for my child. When we asked why he was having seizure’s the doctor told us they didn’t know why. Fevers can cause them. One thing did stick in my head. If they couldn’t find a reason for the seizures it was actually good news. I always thought that was strange. For if they know why you are having seizures it means there is something else going on.
Although JJ had a normal EEG and MRI and they couldn’t tell us why he was seizing my heart told me there was more to this. We went home on an anti-epileptic drug (AED) and hoped it would work. We were told that if they couldn’t find a reason for the seizures we could be hopeful he would outgrow them. We were also told if the first drug didn’t work there were many more to try. With a normal EEG we were trying to be hopeful all things would work out.
It was March 29, 2005. I was holding JJ and it happened. He started seizing. This seizure only lasted about 2 minutes. About 30 minutes after the previous seizure then another thirty minutes later JJ had a third seizure. I called the Neurologist. She asked us to bring him to Kansas City. That afternoon in the ER he had two more seizures. We were again admitted to the PICU. This hospitalization would prove to be very intense. No one knew what to do for JJ. His meds were changed and it was now apparent his development was slowing. JJ was on a Video EEG for 7 days. He had been poked and prodded more times than I want to count. We saw more doctor’s and teams of people it was a mystery to everyone. Although we were told over and over that everything would be fine by this point and time it I knew it wouldn’t be. I knew everything really had changed forever.
The developmental team came to evaluate JJ. It was then that some pieces started to fall into place, although it was a puzzle that would take two years to complete. The team noticed JJ had a single crease on the palm of his hand, a sign that something genetic could be going on. JJ had also developed multiple birthmarks which we were told could indicate one of many different syndromes. Of course I had begun to search the internet like crazy to find out what was wrong with JJ. It was the only way I could grieve what was happening but I knew if I didn’t face this head on we would all drown.
JJ’s seizure’s began to get completely out of control. Every morning we started the day with a tonic-clonic seizure. JJ also began to have myoclonic seizures. JJ was now having between 50-100 seizures a day of all types. The meds we were trying weren’t helping. We were getting desperate. I began to research everything I could about Epilepsy on the internet and try to find something that matched what JJ had. The reality of his condition took a toll on us.
JJ continued to decline. His seizures were completely unmanaged and life was difficult. We had several more hospitalizations and lots of ambulance rides. At night I would rock JJ before bed, I cried every night as I held him and felt his little body jerk from the seizures. My heart ached like never before. The pain so intense I can still feel it today when I think about putting him to bed every night. There was no peace for him or any of us. The worry took a huge toll on our entire family, not just Kevin and I.
Developmentally, he was falling behind quickly. Life with a special needs child soon took hold. Our lives were soon consumed with all things JJ. We soon became ‘anti-social.’ It was difficult to leave JJ with just anyone. Seizures are very scary and difficult too watch. Many weren’t comfortable with watching JJ. Through no fault of anyone friends stopped calling to invite us places as the answer was always no, thanks. It was emotionally difficult to try to balance JJ’s needs, advocate for him and help everyone understand that this wasn’t going to get better anytime soon.
In May 2005, we went yet to another Neurologist. JJ’s meds were changed and another inpatient Video EEG was ordered. The myoclonic seizures were out of control. How could he learn? His brain was always having electrical discharges.
The 48 hour Video EEG only lasted 24 hours. This time the EEG was very abnormal revealing continuing spikes, slow waves etc. JJ had already been on 4 AED’s, none which controlled his seizures. JJ was also fitted for a Helmet to protect his head. Not only was he falling from his seizures but he was completely off balance. We used to joke that he was drunk all the time. It was at this point I joined the online support group for Epilepsy. I had to read all I could. We started on the Keto Diet and changed meds again….
Monday December 12, 2005, I received the following e-mail from a mother who saw one of my posts on the Keto Diet site… Part of what she wrote to me follows:
Hi Tiffanie
I am afraid Jacob's history sounds way too familiar to me. He seems
to be following SMEI pattern pretty closely. SMEI or Dravet's
syndrome is quite difficult to diagnose in the beginning and as I
understood you do not have definite diagnoses yet. I'll just give
you some "highlights" of the syndrome and if you think your son fits
the pattern I strongly recommend you to join our support group……..
I am afraid Jacob's history sounds way too familiar to me. He seems
to be following SMEI pattern pretty closely. SMEI or Dravet's
syndrome is quite difficult to diagnose in the beginning and as I
understood you do not have definite diagnoses yet. I'll just give
you some "highlights" of the syndrome and if you think your son fits
the pattern I strongly recommend you to join our support group……..
I was stunned. I had read about almost every disorder I thought matched JJ’s situation. I had not heard of this but as I read her entire note I knew this was what JJ had…. To this day I give thanks to her in my prayers….I know it would have taken even longer to find out what JJ had if not for that e-mail.
With the Holiday’s coming we struggled with great sadness and pain as we watched our child deteriorate. JJ accepted the diet well but the seizures continued to be an issue. JJ continued to have reoccurring hospitalizations. I was heartbroken. I remember thinking one morning as he was seizing, “Who does this? Who lives their life this way?” But I knew we did and I knew I had to get over my own pain to help my son. The light in my child’s eyes was gone. He was so medicated, seizing, not talking; it was devastating.
I took the e-mail I had received and made it my goal to get him tested, no matter how far I had to go. We decided to see yet another geneticist (this would be our 3rd one and we were on neurologist number 5.) They were wonderful but insisted on testing JJ for yet 2 more things. If they came back negative they would send in for the SCN1A test. Ironically, I had to be the ones to tell them it was available. December 29, 2006, two years to the day of the first seizure the results were in;. JJ was positive for a SCN1A gene mutation and had Dravet Syndrome. An empty feeling settled over me. I had the answer I knew all along. Now the reality, this isn’t going to go away…..
JJ continues to have seizures, continues to fall behind and now is G-tube fed. He has never said Mama or Dada; he has gained skills and lost them. But JJ is the most incredible child anyone could ever meet. He has an infections laugh and smile. He loves to be held and cuddled. He is my light, my life, my motivation for all I do.
It is true life would be different without JJ having DS but JJ has made me a better person. I still go through a continual grieving process. Some days are better than others. I curse DS many days but I also curse the ignorance in this world about people with special needs. I do get tired of fighting for everything he needs. But at the end of the day, JJ is my Angel and I will always protect him but I thank him every night for being my son.
Haley was born on August 20, 2000 after a healthy, uneventful pregnancy and delivery. She developed normally hitting all her milestones on time, if not early. She was a happy, vibrant little girl with a delightful spirit and we were enjoying being parents to our first born. However, that all changed on January 29th, 2001 when Haley suffered a 25+ minute grand mal seizure. It happened while was taking her temperature on the changing table because she looked flushed. The ear thermometer read only 96.3 degrees, so I decided to take it rectally. As I was waiting for the thermometer to give me a reading, she started to convulse and her eyes rolled back in her head. I knew immediately it was a seizure. Don’t ask me how I knew; I had never seen one before (except my dog). We drove quickly to our local ER and the staff got the convulsions under control and ran numerous tests. We left the ER with the diagnosis of an ear infection and febrile seizure.
We went home and tried to resume a normal life. Haley continued to hit her milestones. Then on Mother’s Day weekend, she had a second seizure. This time is started as a generalized tonic clonic and then focalized on her left side. Again we rushed her to the local ER, they attended to her and ran tests and then decided we needed to be transported to a larger hospital. We spent the weekend in MCV in Richmond, VA, over an hour away from home. There Haley had a CT scan, spinal tap, EEG, etc. After the weekend stay, we still left the hospital with no new information and the thought it was another febrile seizure.
We were not impressed with the doctor we saw in the hospital. He wanted to put Haley on medication right away. We decided to get a second opinion. We traveled to Children’s hospital in Norfolk, VA and found a wonderful neurologist there. He thought since Haley was developing on track and even hitting milestones early, she did not need a daily dose of medication. He instead prescribed Diastat for emergency use. From January to December 2001, Haley only had five seizures and we thought it was the end of the world. It was not until she was two years old that Haley went on a daily dose of anti-seizure drugs.
At two years old, Haley was speaking in complete sentences, knew her shapes, letters and numbers. She could even write her name. After starting the drugs we noticed that her learning slowed, but we attributed it to the drugs and not the syndrome.
At four years old, we took Haley to Johns Hopkins and tried the Modified Atkins and Ketogenic diets. It was during this time that she was on Dilantin and Lamictal which we know in hindsight probably hindered the diets from working. During the Ketogenic diet days, Haley would go into status epilepticus on a weekly basis from January – April 2005. We had many hospitalizations, ambulance rides, and unanswered questions during this time.
In June 2005 we went back to where we started. We saw a new doctor that began a more in depth testing cycle, including a 72-hour video EEG. After two years of working with Dr. Jack Pellock, we finally got the official diagnosis.
It has been a long, tiring journey, but made us all stronger. Presently Haley has seizures 2-3 days a week. Her seizures are primarily nocturnal, occurring mostly before she wakes up in the morning. She is developmentally between 3-5 years old. She definitely knows more than she can express, and she still writes her name the same as she did when she was two. Haley is still a happy “big girl” with an unabashed affection for her daddy. She has a set of younger twin brothers (born in 2003) to help look after her. Haley has touched many in our community. Her family is devoted to the IDEA League and committed to finding more research to help children like Haley and help raise awareness so no family will have to wait over six years for a diagnosis.
To read more about Haley you can go to www.haleyismyhero.com
JORDAN of California
Jordan was born November 2, 2007. I was induced a week early because I had gestational diabetes. He was a beautiful and very healthy baby. He grew normally with no problems until he was 4 mo old. He started having what we though were muscle type spasms in his right arm. Something in my gut told me that it wasn't right. I had read up on it and it looked to be a focal seizure. I rushed him down to the ER three times insisting they refer us to a neurologist to check him out. Finally at the third ER visit they sent a referral. This was in February (they booked us an appt in May). April 28, 2008 Jordan had a full tonic clonic (grand mal) seizure lasting one hour and 25 minutes. With cluster seizures over the following four hours. They pumped his poor little body with EVERY drug imaginable and it did nothing. I sat next to him holding his had and my heart broke that day. I couldn't help my son. I remember that day like it was yesterday. Total chaos and panic in the emergency room. Jordan was 5 mos old. He was in ICU for nine days following and they did EVERY test you can think of and everything came back normal except for his EEG that showed that he did actually have a seizure (as if we needed confirmation).
After we were discharged the neurologist explained to me that it probably was a febrile seizure and he was not going to put him on meds just yet. A week went by and Jordan had another full tonic/clonic seizure lasting 45 minutes. Back in the ICU we went. Because of all the meds they had given him his respiratory system shut down forcing the doctors to incubate him (again).
Still no meds per neurologist.
After his third tonic clonic seizure they finally put him on Keppra. Jordan started having seizures just about every other day (t/c seizures) if not every couple of days. They added trileptal and told us it was idiopathic epilepsy. They did not know what was causing his seizures. When the trileptal was added..his seizures increase and lasted longer. When Jordan was in the ICU again when he was 8mos old, my mother had asked his neurologist about this syndrome she had read about online....Dravet's Syndrome. I remember clear as day the neurologist saying "no way, his symptoms are not that of dravets". My mom forced the issue and he reluctantly agreed to start genetic testing.
Two weeks went by and I got a phone call. He called me to tell me Jordan tested positive for SCNA1 gene. I didn't understand what that meant. He said it was the horrific syndrome my mother had suggested to him. That we need to get him off the trilieptal immediately because it can trigger seizures with kids who have dravet's.
Over the past year...Jordan has had 28 tonic clonic seizures that have gone into status. He has had 5 absence (drop seizures). He has been on 5 different medications. We are lucky, Jordan developmental status right now is about 5 mo behind. He's almost two and is a very tough kid. He currently takes Topamax 100mg am 125mg pm, Keppra 6.5ml BID, B6 75mg qhs, DHA, and Folic Acid 400mg BID. He recently started having mutilple atonic, myoclonic, focal, and absance seizures daily. Considering Stripenol addition with his neuro currently.
I think its INCREDIBLY important to get awareness out there because I believe in my heart, we wouldn't have found our diagnosis if my mother didn't spend hours researching epilepsy in babies. We would be at idiopathic epilepsy still to this day and can only imagine how bad off he would be if he didn't get off the medications that contraindicated his syndrome.
April 21, 2008 - January 1, 2010
Reed Thomas Stricker was born April 21st, 2008 with a view out of his hospital window of the Front Range of the Rocky Mountains. Reed was born healthy at 8 lbs and for his first six months was a perfectly normal and developing baby boy. Reed’s family and his older brother Burke (4) were very excited and were all back home in two days. Reed went camping in just two months and to Disneyland in four…
One morning Reed had a generalized seizure at 6 months old following a routine vaccination. The initial ER 
diagnosis was a simple “febrile” seizure that, while not uncommon, was the result of an elevated temperature. After that first seizure in October 2008 Reed had another one and another one lasting over 30 minutes. All common tests such as spinal tap, CAT scan, and blood tests were negative and we were abruptly introduced to the neurological disorder of Epilepsy.
diagnosis was a simple “febrile” seizure that, while not uncommon, was the result of an elevated temperature. After that first seizure in October 2008 Reed had another one and another one lasting over 30 minutes. All common tests such as spinal tap, CAT scan, and blood tests were negative and we were abruptly introduced to the neurological disorder of Epilepsy.
As we were learning about seizures and Epilepsy we had many questions, fears, and Google inquiries. Reed went on an anti-epileptic drug (AED), Keppra, but continued to have complex seizures. He then went on Lamictal along with Keppra but continued to have seizures and even worse status epilepticus ones on this medication. On March 30, 2009 he had a seizure lasting over an hour and was hospitalized at Denver Children’s Hospital for several days of EEGs, monitoring, and tests.
Fortunately, Reed was already under the care of the Pediatric Neurology Department at Children’s and Dr. Kelly Knupp. He was diagnosed with Dravet Syndrome on April 1st, 2009 due to the nature, pattern, and AED resistance of his seizures. We were speechless, depressed by Google, and essentially mourning for Reed’s and our own future, hopes, dreams, and fears. Life was different now and we didn’t blame anyone but we would all adapt to it.
Reed was immediately tested for a mutation in the SCN1A gene, a gene encoding the protein for the flow of electrical impulse between neurons through voltage-gated sodium ion channels. He tested positive with an SCN1A splice mutation never before recorded. In other words, his sodium ion channel gates do not close properly per his brain’s instructions and electrical activity continues. Too much electrical activity causes seizures. Since this gene/mutation/protein was encoded in Reed’s DNA, albeit randomly and not inherited, all his sodium channels have this issue; billions of them. Reed’s seizure history were clonic, hemi-clonic, and absence seizures and we do not believe that he had any tonic (stiffening), myoclonic (brief muscle jerks), or any partial seizures nor loss of unconsciousness.
Reed was lucky in a sense that many children with Dravet’s do not get diagnosed until much later, often 8 or 9 years old after many years of seizures, developmental slowing, failed AEDs, and misdiagnosis. Genetics, medical research, and reclassification of Dravet Syndrome has resulted in broader knowledge and earlier 
detection than ever before hoping to prevent development delays and other risks sooner.
detection than ever before hoping to prevent development delays and other risks sooner.
Reed then went on another AED, Topomax, in April ’09 and did very well through May. But then he started having many daily 5-10 second “eye seizures” that were actually atypical absence seizures triggered by heat, excitement and fever among others. He would have 5-30 of these a day and would often fall down if walking or running. Now we began to try Clobazam along with the other two drugs to no avail. Reed not only experienced daily absence seizures and major seizures but also developed sleep and behavioral issues which we didn’t know if it was from his condition, his multiple medications, or what. In 2009 Reed had a total of 20 major/complex seizures, 16 ambulance rides, and thousands of absence seizures.
Although we were aware of the condition and his outlook, we still maintained hope (or denial) that he would somehow get through this. Over the past year we reached 10 or so plateaus of bad news or realizations and only a couple of good news or hope. We began to consider the ketogenic diet, fitted helmets, seizure dogs, etc. and although we knew of the inherent dangers and risks with Dravet Syndrome, we shielded ourselves from many of the known mortality and severe developmental risks because he still seemed so “normal”. We just kept living, moved Reed into our room, and coped with it with the best life possible. I would be remiss not to admit the reality that we could not continue our daily lives as normal and that it also greatly affected our other son Burke in neglect, short tempers, and activity cancellations.
Sadly, Reed died quietly in a normal afternoon nap after playing in the park with his brother, father, and grandpa on New Year’s Eve. I put him down for a normal afternoon nap, his grandpa and I checked the video monitor 
every 5-10 minutes as we’ve come to do, and he napped normally and changed positions a couple times in his crib for an hour. However, I casually passed by his crib and smelled a dirty diaper, so I checked on him and immediately noticed he was not breathing. He was not blue or cold but was just not breathing. We performed CPR and called 911. Paramedics arrived in 5 minutes then took Flight for Life to Children’s Hospital and although they got his heart going with Epinephrine and oxygen on life support, he was gone. His brain never regained any primitive activity and blood pressure continued to decrease. His grandma and grandpa were in town and we all four were there with him through the end. The official cause of death was Sudden Unexpected Death in Epilepsy (SUDEP).
every 5-10 minutes as we’ve come to do, and he napped normally and changed positions a couple times in his crib for an hour. However, I casually passed by his crib and smelled a dirty diaper, so I checked on him and immediately noticed he was not breathing. He was not blue or cold but was just not breathing. We performed CPR and called 911. Paramedics arrived in 5 minutes then took Flight for Life to Children’s Hospital and although they got his heart going with Epinephrine and oxygen on life support, he was gone. His brain never regained any primitive activity and blood pressure continued to decrease. His grandma and grandpa were in town and we all four were there with him through the end. The official cause of death was Sudden Unexpected Death in Epilepsy (SUDEP).
For 20 months Reed amassed many adventures in camping, swimming, running, climbing, sledding, cuddling, 
traveling, helping, and playing, all the time not the slightest bit aware of his condition or seizures when they occurred. I am thankful for that and am sincerely grateful at how his mother cared for him all the time. We could not have asked for a more loving and expressive child who just recently learned to hug on his own free will and initiative. As I carried him into his final afternoon nap he deliberately turned to me and put both arms around me and squeezed. I'll cherish that and the memory of Reed for the rest of my life. We will miss him dearly.
traveling, helping, and playing, all the time not the slightest bit aware of his condition or seizures when they occurred. I am thankful for that and am sincerely grateful at how his mother cared for him all the time. We could not have asked for a more loving and expressive child who just recently learned to hug on his own free will and initiative. As I carried him into his final afternoon nap he deliberately turned to me and put both arms around me and squeezed. I'll cherish that and the memory of Reed for the rest of my life. We will miss him dearly.
We sincerely cherish everyone’s support, love, and friendship throughout Reed’s short life. Special thanks to the Golden Fire Department, Police Department, Emergency Medical Technicians, Paramedics, Lutheran’s Medical Staff, Children’s Hospital Staff, Dr. Kelly Knupp and Dr. James Campbell.
With our family, friends and neighborhood, we will continue life, never forget, and always love our Reed.
Reed Thomas Stricker
April 21st, 2008 – January 1st, 2010
April 21st, 2008 – January 1st, 2010
My son Sean was born at 41 weeks gestation via an emergency c-section. He weighed 7lbs 12oz and was completely healthy. He reached his milestones at the right times, he rolled at 10 weeks, sat unaided at 5 months, crawled at 6 months and was walking by 9 months. He had his first lot of stitches at 10 months - He thought he could run after only a month of walking experience under his belt.
Two weeks after Seans first birthday, he had his Measles mumps and rubella immunization and only 12 hours later he had his first Febrile Convulsion. This first Febrile Convulsion started a long and tedious journey into the realm of severe and uncontrollable epilepsy. From July 2005 to February 2006, Sean was admitted into hospital more than 6 times for Febrile Convulsions. Most of the Febrile Convulsions were related to ear infections he frequently had. By this stage (7 months after his first seizure) Sean had already been trialed on Phenobarbitone which we thought caused him to regress with his intellectual development and so he was then put on Epilim. In February an Ear, Nose and Throat Specialist inserted Bilateral Grommets into Sean's ears. Before he had the grommets inserted he had had over 100 convulsions, including one that went for 12 minutes. After he had the grommets implanted he went 9 months seizure free, the longest he has been completely seizure free since it all began. I thought the battle was over but it had only just begun.
When Sean was around 2 and a half, the Febrile Convulsions started again. He had another set of Bilateral Grommets inserted and then only had small Febrile Convulsions periodically. During this time he caught up intellectually and I believe even excelled in certain developmental categories.
At this age, Sean could recite his name, age, address and telephone number with complete accuracy. He could dress himself, including shoes and socks. He also knew all the colors of the rainbow and then some. I even had to teach him beige, mustard and aqua because he was never satisfied with learning. He knew his alphabet, he could count to 40, he could even count to 10 in Spanish. He loved to play with puzzles, read books and draw. He also loved cooking and creating things with play dough.
At this age, Sean could recite his name, age, address and telephone number with complete accuracy. He could dress himself, including shoes and socks. He also knew all the colors of the rainbow and then some. I even had to teach him beige, mustard and aqua because he was never satisfied with learning. He knew his alphabet, he could count to 40, he could even count to 10 in Spanish. He loved to play with puzzles, read books and draw. He also loved cooking and creating things with play dough.
In February 2008 which makes Sean roughly 3 and a half, he started having A febrile Convulsions. In other words there was no temperature causing them this time. He had an MRI around this time which came back normal. Each month his Tonic-Clonic seizures were multiplying. In March 2008 he had 10, April he had 31 and in May he had 64. By this stage Sean had been trialed on Lamictal, Lamotrogine and Tegretol. He also had his dosage of Epilim increased all to no avail.
In May, Sean experienced his first Non-Convulsive Status period. This stops him from being able to walk, talk, eat or drink properly. Sean cannot feed himself, so has to be spoon fed soft foods and drinks from a baby bottle with assistance. During this time his Myoclonic Jerks are quite bad. His arms and legs shake, his fingers and toes twitch and he experiences facial twitching. This often lasts for a few days. It was during this time he was admitted back into Hospital and had his third EEG. This one showed high delta rhythms with frequent waves and spikes, meaning that his seizures had finally been recorded. He responded well to Medazolam but it also makes him hallucinate, become disoriented and distressed. In June 2008 he had 106 Tonic-Clonics all up. His worst day was 22 seizures. I rang an ambulance after the 19th. It had begun to get to the point where I felt that everything they did in hospital I could do at home.
On July 4th 2008 Sean had his first infusion of IV steroids. This involves a day admission to the Hospital and it takes roughly 5 hours for the infusion to be complete. Since he started the monthly IV steroids, Sean's seizures reduced dramatically. In July he had 54, in August he had 16 and in September he had 23.
Although the Tonic Clonics reduced in number he began having Myoclonic-Astatic Seizures, which cause him to suddenly drop to the ground. This has resulted in many injuries, mainly to his face and the back of his head. He has been to hospital twice for serious injuries. Once was from when he damaged his lips and gums so bad that he couldn’t eat, drink or take his medication so needed IV fluids and medication. The other time was from when he had two drop seizures which resulted in a 6cm by 6cm lump on his forehead. It was like half a tennis ball sitting above his eye. Of course it had to be just before Christmas so he had a lovely black eye for his Santa photos. Sean now wears a helmet daily just in case.
In March 2009, Sean was admitted into Westmead Childrens Hospital for 3 days to have a video EEG done. This EEG pattern along with his history allowed the specialists there to confirm my thoughts about Sean having Dravet Syndrome. He was tested for the SCN1A gene mutation but this came back normal.
Sean continues to have seizures everyday. He has the Tonic-Clonics, Tonics, Myoclonic-Astatics, Absence Seizures, Atypical absences, pattern trigger seizures, sleep myoclonus, Complex-Partial Seizures, Myoclonics and goes into Non-Convulsive Status at least once a month. In March of 2010 he had a total of 144 tonic clonics, this isn't including any of his other daily seizures which would easily go past the 200 mark each day. In 12 days he has had 61 tonic clonics and another 22 drop attacks. I cannot remember the last time he didn't have a tonic clonic in a 24 hour period.
Sean continues to have seizures everyday. He has the Tonic-Clonics, Tonics, Myoclonic-Astatics, Absence Seizures, Atypical absences, pattern trigger seizures, sleep myoclonus, Complex-Partial Seizures, Myoclonics and goes into Non-Convulsive Status at least once a month. In March of 2010 he had a total of 144 tonic clonics, this isn't including any of his other daily seizures which would easily go past the 200 mark each day. In 12 days he has had 61 tonic clonics and another 22 drop attacks. I cannot remember the last time he didn't have a tonic clonic in a 24 hour period.
He has been on Phenobarb, Lamictal, Tegretol, Topamax, Dilantin, Stiripentol, Keppra, IV steroid infusions, daily oral steroids and is now on Epilim, Frisium, Clonazapam and Clobazam. He also has lowered muscle tone and a very sensitive palate and gag reflex and cannot tolerate foods that are soft or have color. He has received a PEG Tube so he can start the Keto diet.
Sean will be six in July and he now attends a Special Needs School. This allows him to regain his skills in a school environment that can accommodate his disability. Sean has a vocabulary of a 19 month old and his gross and fine motor skills are also delayed. Living with a child with Dravet Syndrome is extremely hard, challenging and exhausting but it is completely worth it. I may not hear him say I love you very often but when he does say it, it’s better than winning the lottery. I can see all of the colors in his eyes when he has an absence, when he is postictal I can count all of the freckles on his face and I know when ever a new one appears and because of his developmental delay my son gets an extended childhood. Not many other parents can say they know the little things like that about their children and in that sense, we are the lucky ones.