The three stages of Dravet syndrome present serious challenges for parents. Even at 81 years … Stories of those whose lives and loved ones are touched by Dravet. With numerous success stories like that of Charlotte Figi, why aren’t more doctors suggesting cannabidiol as a treatment for Dravet Syndrome? A message from the founder . As you would all know she suffers from a syndrome, called Dravet Syndrome. They amaze us every day with their strength and have gone through more than most of us will in our lifetime. What is Dravet Syndrome? Read more.... My name is Felicia and my daughter is Alexandria, we call her Lexy.My pregnancy and delivery with Lexy went perfect. My six year old daughter, Charlotte, is diagnosed with Dravet Syndrome; a catastrophic pediatric epilepsy. Knowing that a person is being recognized and honored in a significant way can be a source of comfort for family and friends during a difficult time. Please direct any medical related questions to your physician. Designed to give you insight and share experiences of caring for a child or adult with Dravet Syndrome, from those who deal with it on a daily basis. Cherry Hill, NJ 08034 Dravet Syndrome Spectrum Disorder does not necessarily mean "Dravet Syndrome", the spectrum includes Dravet Syndrome at the severest end of the spectrum, but the spectrum also includes SMEB, EMRF, GEFS+ and ICE-GTC. According to a story from rekordmoot.co.za, the du Plessis family of Moot, South Africa couldn’t believe it when two year old Barry du Plessis was diagnosed with Dravet syndrome, a rare epileptic disorder.As far as the family knows, Barry is just one of three kids in the country that are currently known to have it. Dravet syndrome is the most severe of a group of conditions known as SCN1A … Study of the genetic defects responsible for Dravet syndrome and related disorders is occurring in several models of Dravet syndrome, including fish and rodent models. The cause of Dravet syndrome is considered as genetic. For more information, please visit www.TeamTalia.org. I am just exhausted, ALL the time. They are our HEROES. Read More.... Melanie Wright is a mum of a child with Dravet Syndrome. This could only be truly diagnosed by the process of elimination, which turned life into a waiting game. Daniela’s Story Daniela’s story….. living with the challenges of a seizure disorder Funny thing, but I knew from conception that I was going to have a girl and I would name her in honour of my husband’s sister, may she rest in peace. Dravet syndrome is the eponym for a particular type of severe epilepsy that begins between the first and fifth year of life. Whether you are a doctor, parent, grandparent or friend, we can use your help. Previously known as Severe Myoclonic Epilepsy of Infancy (SMEI), it affects 1:15,700 individuals, 80% of whom have a mutation in their SCN1A gene [1]. Dravet syndrome is a rare form of epilepsy that starts when an otherwise healthy child is a baby.. Dravet syndrome (severe myoclonic epilepsy of infancy, SMEI) is a severe chronic encephalopathy, which starts in early infancy and evolves through different stages to adulthood. A consensus panel of epilepsy specialists, experts in Dravet syndrome, and parents of children with Dravet syndrome came together to develop a set of recommendations for the better diagnosis and management of the condition. Go ahead! Born a happy, healthy little boy, no one could even imagine what he was facing in his time to come. At 5 months old Sophia took her first seizure and because she was unwell the doctors put it down as a febrile convulsion which are quite common in childhood due to high temperature. Matt Figi hugs his 7-year-old daughter Charlotte inside a Colorado greenhouse. P 203-392-1955 *Calls are processed through Google voice and then distributed to staff members, so it may take 24-48 hours for a response. She suffers from a rare seizure disorder called Dravet Syndrome which causes her … 2. If you are interested in setting up a tribute page to remember a loved one, please contact Mary Anne. PO Box 3026 She suffered from Dravet Syndrome — a very rare form of epilepsy. This epilepsy diagnosis affects 1 in every 15,700 individuals and 80% will have a mutation in the SCN1A gene. The plants are a special strain of medical marijuana known as Charlotte's Web, which was named for … Read More.... Jarod was only 4 months old when we became aware of his seizures, he must have been having little jerks called myoclonic seizures for a while before that but we happily dismissed them for the normal strange baby movements that occur in most infants. Before 1989, this syndrome was known as epilepsy with polymorphic seizures, polymorphic epilepsy in infancy (PMEI), or severe myoclonic epilepsy in infancy (SMEI). Dravet Syndrome is a rare, catastrophic, lifelong form of epilepsy that begins in the first year of life with frequent and/or prolonged seizures. Dravet syndrome is a rare, catastrophic, lifelong form of epilepsy that begins in the first year of life with frequent and/or prolonged seizures. ... Charlotte’s grandfather started reading about several success stories … There was certainly nothing normal about his first big seizure however and it was far less subtle. ‌I am raising money to help fund a visit to a Dravet Syndrome specialist for my 7 year old niece Cara. The complex characterization of the syndrome onset during first year of life by febrile, afebrile, clonic, and tonic-clonic seizures, and further repetitive mainly myoclonic seizures (Dravet, 1978; Dravet, Bureau, Oguni, General Inquiries Please direct any medical related questions to your physician. Most cases relate to mutations in the alpha-one subunit of the voltage-gated sodium channel (SCN1A). The disease begins in infancy and is lifelong. Barry’s symptoms suddenly began to appear when he was around 21 … What are the symptoms of Dravet Syndrome? The very next day, again after a bath, he went in to a grand mal seizure that went on for hours. *Calls are processed through Google voice and then distributed to staff members, so it may take 24-48 hours for a response. Walter lives in Fargo, ND, and most people know him as “Grandpa”. Please note: Services may vary depending on where you are in the world. Landen's Story (New) He came into this world on August 3, 2012. Success! Zoey's first seizure was when she was 3 months old. Dravet Syndrome (DS) is a rare form of epilepsy characterized by recurrent seizures that appear in an apparently healthy child. .... Read More.... My name is Paige Figi. These are expected to lead to the development of effective therapies to address seizures as well as their underlying genetic cause. He averages about 12 to 15 tonic clonic nocturnal seizures per month. A page in memory of your loved one can tell the story of their life, while providing the opportunity for family and friends to make donations in that person’s memory. Walter Rodlund. This is my daughter Zoey. We had tried many medicines that didn't work for Zoey. A mutation in this gene can lead to an abnormal “electrical” brain activity which may trigger seizures. Dravet syndrome, also known as severe myoclonic epilepsy of infancy (SMEI), is a rare genetic disorder which occurs in roughly 1:16,000 to 1:21,000 births [1]. Robert J. Britting, B.S., M.B.A. DiseaseHQ is the most comprehensive Rare Disease resource in the world.It is completely informative, simple and FREE. Some more i… Dravet Syndrome Stories From Those Who Know. In Loving Memory pages may also be used in this manner. Please Note: DSF is unable to provide medical advice. Often, families have asked for donations to be given to Dravet Syndrome Foundation in lieu of flowers. What are the symptoms of Dravet Syndrome? At 6 months old Sophia took her first status seizure (a seizure lasting longer than 30minutes) Read More.... Jarod's mum, Sharon was asked by Source Kids Magazine and Variety Org about her experience with purchasing and adapting a special needs access vehicle with wheelchair ramp and hoist. When Nadezhda was about 1½ years old we finally had a working diagnosis of Alternating Hemiplegia of Childhood. We went through the dark days just like everyone else (and i DO hope people will realize that), but we survived those dark days and look where we are now! 1. If you like obscure names, the condition used to be known as the severe myoclonic or… Read More.... My son Nathaniel was the second confirmed case of Dravet Syndrome in 2006. Cannabichromene (CBC) is … She has significant cognitive and motor delays, brain damage, a surgically placed feeding tube for water and food, struggles to talk and walk, and needs full care in all areas of life. Written and sung by Pad, parent to Anna with Dravet Syndrome Please Read .... Sophia is 5 years old but I would like to tell you a bit more about Sophia's diagnosis. If you wish to have your story told send an email to us at: admin@dravetdata.com. Designed and Developed by Sharon Wills, Dannielle's Story (Adult with Dravet Syndrome). Here's her answers. For a quicker response, please email info@dravetfoundation.org. It has NOT been easy, and it has required a LOT of patience, work, persistence, planning, therapy, expense, creativity, and determination for both Brian and me, and family support, and LOTS of prayers,etc. This is based on what is available in South Australia. Here she tells us I AM EXHAUSTED!!! Mary Anne Meskis, Executive Director I am married and have two children... Read more... Our wonderful doctors at Primarys did some tests to figure out the cause of the seizures. First and foremost, these success stories are just that…stories. Often, families have asked for donations to be given to Dravet Syndrome Foundation in lieu of flowers. Dravet syndrome, previously known as severe myoclonic epilepsy of infancy (SMEI), is an autosomal dominant genetic disorder which causes a catastrophic form of epilepsy, with prolonged seizures that are often triggered by hot temperatures or fever. Designed to give you insight and share experiences of caring for a child or adult with Dravet Syndrome, from those who deal with it on a daily basis. Dravet syndrome is a rare, genetic epileptic encephalopathy that gives rise to seizures that don’t respond well to seizure medications. Lexy was born January 10th, 2008 as the most beautiful and healthy baby ever. He's on 4 now, Depakote, Banzel, Clonazepam, Topamax, rescue Diastat and sleep aide. These findings highlight the need for active management and treatment strategies to address such problems, which should be considered as part of the … Dravet Syndrome is an increasingly recognized genetic cause of seizures in infancy. It is characterized by refractory seizures, followed by stagnation of cognitive development and by the appearance of motor deficits ( Dravet et al., 1982 ). Yes I am living with dravet syndrome. Cannabis-based products are increasingly being used to treat refractory childhood epilepsies such as Dravet syndrome. The condition causes a lot of seizures that are hard to control. Severe myoclonic epilepsy of infancy (SMEI) was first described by C. Dravet (1978) as a well‐characterized condition. Meet our children. A short video about life with Dravet syndrome and efforts to raise money to fund Dravet-related research. 2007-2021 © Sharon Wills in conjunction with Shazza's: Dealing with Dravet Syndrome etc. " I want our journey to be one of HOPE and encouragement for others! Dravet syndrome is associated with a high prevalence of behavioral problems that can severely affect quality of life, compared with the general population or to patients with epilepsy but without this disease, a study reveals.. I could not ask for any better. Dravet syndrome, previously called severe myoclonic epilepsy of infancy (SMEI), is an epilepsy syndrome that begins in infancy or early childhood and can include a spectrum of symptoms ranging from mild to … In the absence of successful medical treatment for Dravet syndrome, further attention … Charlotte Figi, 6, has Dravet Syndrome, a rare, severe form of epilepsy. In Loving Memory pages are tribute pages that you make to honor the life of your deceased loved one. Password reset email has been resent. At around three months - he was noticed to have a twitching of his arm - after a bath. Devinsky and colleagues around the country tested a cannabis derivative called cannabidiol — CBD for short — on 120 Dravet syndrome patients. He came into this world on August 3, 2012. 1 in 20,000 – 40,000 children born have Dravet Syndrome fact from. It is very difficult to treat with anticonvulsant medications.It often begins before 1 year of age. They need our help to fight for a cure! It was named after the French physician Dr. Charlotte Dravet who first described the condition in 1978. CLICK HERE TO SEND US YOUR CHILD’S PHOTO AND STORY, If you are interested in setting up a tribute page to remember a loved one, please contact. maryanne@dravetfoundation.org I found out I had the SCN1A gene when I was 19 years old just after I finished a modified year 12 at high school. Read More... We are currently in the process of updating the site, as a result stories submitted before 2010 have not yet been included. These include the known anticonvulsant compound cannabidiol (CBD) and several molecules showing emergent anticonvulsant properties in animal models. In Loving Memory pages may also be used in this manner. Here's the poem that started the term "Tiger Parents". Here's the poem that started the term "Tiger Parents". Dravet Syndrome Foundation, Inc. ... Story highlights. Seizures are persistent and severe but developmental, behavioral, and sleep issues add to the stress. Please Note: DSF is unable to provide medical advice. For most of these patients (about 80%), the cause is a mutation in a gene called SCN1A. Cannabis contains at least 140 terpenophenolic compounds known as phytocannabinoids. info@dravetfoundation.org He is now 9 years old and has been on several anti-epileptic drugs during his short life. Dravet Syndrome is a rare, catastrophic, lifelong form of epilepsy that begins in the first year of life with frequent and/or prolonged seizures. We are always looking to add new stories. A page in memory of your loved one can tell the story of their life, while providing the opportunity for family and friends to … Dravet Syndrome is a severe seizure disorder. Shazza's Offering Dravet's information, fun activities for the kids, disability information and places to find assistance with disability and epilepsy issues world wide and more locally to South Australia. What is Dravet Syndrome? It begins in the first year of life in an otherwise healthy infant. For a quicker response, please email info@dravetfoundation.org. When I asked Brenda if I could share this story on DravetData.com Brenda wrote back saying "Sure! No, I haven't done anything strenuous, I haven't been up all night, and I haven't really done anything physically tiring! This is a wonderful way to give an everlasting gift while telling your loved one’s story. "Charlie", as we call her, suffered from over 300 .... Read More.... My name is Dannielle I am 27 years old I live in Australia and I am living with Dravet syndrome and would like to give you a positive outcome of Dravet syndrome Because I feel that a lot of parents see doom and gloom with dravet syndrome and not the positive potential side of it. This epilepsy diagnosis affects 1 in every 15,700 individuals and 80% will have a mutation in the SCN1A gene. Half took it for 14 weeks and half got a placebo. Until April 28th, 2008 when she was just laying on the bed playing and my husband and i were just talking when i turned around to look at her i saw her right arm go straight up in the air and it started twitching i knew it was a seizure. Healthy little boy, no one could even imagine what he was to. Parents '' response, please email info @ dravetfoundation.org Syndrome Foundation in lieu of flowers – 40,000 children born Dravet. Diastat and sleep aide first big seizure however and it was named after the physician. 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