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One little boy's fight against seizures
Jordans Story
JORDAN'S STORYJordan was born on February 5, 2004 at 7 pounds, 11 oz. He had neonatal jaundice and an umbilical granuloma, but otherwise was a perfectly healthy little boy. He was very pale skinned and bald as an eagle!During the first months of life the only thing we noticed that was different about Jordan was that he did not take good naps and suffered from multiple ear infections. Where my older son, and most babies I have ever met, take 3 to 4 hour naps throughout the day, Jordan preferred to nap for 15 minutes several times a day and appeared to “startle” awake. We noticed early on he had an elevated startle reflex, with him startling to noises like the dogs barking, phone ringing, or it being too loud in the house, etc. Jordan moved along those first few months meeting his developmental milestones on time. He rolled over at 2 months, sat unassisted at 5 months and crawled at 7 months. He cooed and smiled and made noises. He loved to sit in his Exersaucer and play with toys, watch TV. and take baths! Some days he would have 3 baths just because he would crawl into the bathroom and want one. Jordan walked at 13 months.There were two separate occasions between birth and 10 months (unfortunately I cannot remember the dates or his exact age) where Jordan did something I questioned, but with my paramedic training these episodes did not fit “seizure activity” completely and these episodes were blown off. On these two occasions I was holding Jordan and feeding him a bottle and at one point during the feeding he clamped down on the bottle tightly and kind of just “shuddered” for a few seconds. I remember asking my husband what that was and if it was a seizure and he assured me it was not. I remember looking back at these episodes later and thinking to myself how ironic it was that I thought Jordan was having a seizure when he wasn'’t, and now he was having seizures. I did learn much later on from another mom on my Pyridoxine Dependent Epilepsy group that her son did the exact same thing, so maybe it was seizure activity after all. Jordan’s first seizure was on November 27, 2004 at 5:55 p.m. in the bathtub. I think that no matter how many seizures Jordan may have, that day, time and the circumstances will always stick in my mind clear as day – as that is the day our world changed forever. He got in the bathtub at 5:45 p.m. At 5:55 p.m. he sat forward and held his right foot with his right hand and made a face that appeared as though he was trying to have a bowel movement. I took him out of the tub as that was not a mess I wanted to clean up and realized that his right arm was “shaking”. Feeling he was trembling from being cold I wrapped him in a towel and took him upstairs to his room where it was warmer. I lied him down on the floor and dried him off and put a diaper on, but noticed that he was still “shaking” in that arm. I picked him up and called my husband who was at work and told him I was afraid something was wrong. At that point Jordan began grunting some and it was apparent he could no longer hold his head up and was beginning to drool. My husband, who is also a paramedic, came immediately to the house with an ambulance and off they went. The seizure lasted 25 minutes. Jordan was diagnosed as having a febrile seizure, as he was suffering from an ear infection at that time. We were discharged home 2 days later, being told it would probably never happen again. Unfortunately, it did. Jordan had two more seizures that year, one on December 16th which was a partial of his right arm only while in the tub. He again had an ear infection, so we immediately pulled him from the tub and cooled him off with tepid water and this one stopped in less than 1 minute. The second was on December 24th when we were upstairs taking pictures of him in his first Christmas outfit and he went into another partial of his right arm. We stripped him down and this also stopped in less than a minute. He again had an upper respiratory infection. This put his seizure count for 2004 at 3. On January 9, 2005 Jordan had a bilateral myringotomy and tube insertion to hopefully reduce his ear infections and upper respiratory problems and hopefully end the seizures. This didn'’t go real well, as the left tube became blocked with blood and was never functional. On January 13, 2005 Jordan was upstairs in his room playing and I was sitting in his rocking chair watching him. He turned to me, cried out and dropped to the floor in a full grand mal seizure. He was again taken by ambulance to the hospital and this time required intubation due to rapid breathing at 60 to 80 times a minute. This seizure lasted 45 minutes. They left him intubated for 18 hours while fighting over getting him an MRI. We finally won, he got his MRI and another EEG and both were normal. Jordan had croup. Up until this point we had declined anti-convulsant medications, but due to the severity this time and the intubation we were scared enough to be convinced to start them. I still to this day wonder where we would be if we never had, but who can turn back the clock? Jordan was started on Trileptal. We were also given Diastat for home use of any seizures lasting more than 5 minutes.For 20 days he went seizure free, but then the seizures actually got worse on this medication. He had a stint in March, 2005 where he had a seizure almost every other day. The Diastat did not work in stopping his seizures, so because we are paramedics we were given permission to use Versed (midazolam) injections to stop his seizures. This proved to be a wonder drug and always stopped his seizures and we no longer had to go to the hospital. Jordan was diagnosed with Dravet’s syndrome in August, 2005. This is a day that will also stick in my mind forever, as I was sitting on the couch reading the papers that came with this horrible diagnosis while my perfectly “normal” child was sitting on the floor playing with his toys. He had not had a seizure in months and this diagnosis was extremely hard to accept. On one hand it is good that they are diagnosing this earlier as there are so many medications that make this condition worse, and an early diagnosis allows you the opportunity to avoid these, however, at the same time it steals away your baby’'s childhood and all your dreams at a very early age. Over the past seven years since the diagnosis, Jordan has been tried on Topamax (which caused myoclonics), Depakote (which caused night time seizures), Keppra (which caused bad behavior), vitamin B6, Phenobarbital and clonazepam. When the vitamin B6 was first put in Jordan had 7 months without seizures and we thought we had our answer. However, after having 10 seizures in one day in September, 2007 it was apparent it became toxic and was actually causing seizures. The best control Jordan has ever had is on Phenobarbital, clonazepam and cyproheptadine. On this regimen from June, 2008 to June, 2009 Jordan barely had any seizures at all. It is the regimen he is currently on, except clonaezepam has been changed to Clobazam.Jordan is 7-years-old, and is a happy, bright and wonderful child. He is currently nonverbal, and is not toilet trained. He is a joy to be around and even with all of his challenges that we face every day, I wouldn’t change a thing about him. He is home schooled and loves to learn. He loves to take car rides, go swimming and amusement parks. Although it took years to happen he did become developmentally delayed, but mainly in the areas of socialization with other children and speech. We are currently working on those. He also has challenging behavior at times, but we are working on that as well.
DRAVET SYNDROMEYou can learn more about Dravet's syndrome at: http://www.ilae-epilepsy.org/ctf/dravet.html. Jordan also suffers from autism.Dravet's syndrome is a devastating form of epilepsy that begins before the child is one year of age and is characterized by many different seizure types. The seizures are very hard to control with standard anti-epileptic drugs and many times you have to change them repeatedly. Status epilepticus (seizures lasting more than 5 minutes) is common and can be life-threatening.We designed this site to hopefully get the word out on Dravet's syndrome and to possibly help others out there whose children may be suffering from this condition, but have no formal diagnosis yet.
Jordans Autism
JORDAN'S AUTISMThroughout the first few years of Jordan's life it became apparent that Jordan was not progressing as he should. We were told that with Dravet's syndrome comes developmental delay. However, the symptoms Jordan exhibited did not seem to be just plain old developmental delay. He had many traits that were associated with autism. Jordan loved to spin himself and objects; he did not make very good eye contact and did not socialize with anyone outside his immediate family; he had very repetitive play habits and did not have an interest in toys that were not cause and effect; he had an obsession with Exit signs; had no language; and had an apparent problem with hypersensitive hearing, constantly holding his ears and humming to many sounds and sights. After bringing this up to our neurologist, he felt Jordan was too social to have autism and pushed it under the rug. We did not accept his opinion and went to have Jordan evaluated by a neuropsychologist, who did diagnose Jordan with autism.Jordan was begun on the gluten free/casein free diet. We saw very positive results with the removal of casein with improved eye contact and social skills. Removing the gluten, however, caused Jordan to be more withdrawn and unsocial. For this reason, he is currently on a casein free diet. We may re-visit the gluten free at a different time in the future.We are also going to begin ABA therapy with Jordan, as we have heard many positive stories about this type of therapy.When visiting a biomedical physician, Jordan underwent a lot of testing (results right) and we will be addressing each result individually, as due to Jordan's seizures we cannot start more than one treatment at a time. First on our list is to address the high yeast content Jordan has in his body. The rest will follow.BIOMEDICAL TEST RESULTSJordan's Laboratory Result Explanation:Hair:High in AntimonyAntimony is found in all fire retardant items (i.e., clothing, mattresses, etc.) If a child urinates on the mattress the antimony can be released. It is also in all children pajamas. We have to put a mattress pad over his mattress and go through his clothes andreplace them with non-fire retardant items.High in BismuthBismuth is found in make up and can be present in child's hair if hair comes in contact with Mom's face while she is wearing make up. Not really significant.No MercuryThis is significant, as everyone has Mercury in their body and should have some present in their hair. If is not in the hair this means it is being held in the body.Low in almost all essential vitamins and nutrientsJordan's results of all his essential vitamins and nutrients (including a VERY low manganese) are shifted to the left, which represents a malabsorption issue. He is not absorbing his vitaminsfrom food and other sources. This most likely represents leaky gut/malabsorption disorder. Manganese deficiency has proven to cause seizures.Kryptopyrrole Urine Test:The fact that Jordan took 300 mg a day of Vitamin B6 could definitely have made the results lower, but this just shows that he may have been responding to it and rather than take out the Vitamin B6 and risk seizures, we just chose to say that with a low result of 10.62 that the B6 was effectively keeping the pyrrole disorder at a good level. Later on Jordan became toxic on B6 and this theory was proven to be wrong.Blood Tests:Slightly elevated MCV and MCHUsually associated with Cobalamin (B12) deficiency. Will be checking with Dr. Usman on this, as Jordan already was tested for transcobalamin deficiency and it came back fine.Slightly elevated MON/ABS, and ASTEither phenobarbital use or indicative of inflammation (which can show up with inflammation of the gut).Low BUNShows up a lot in the children they see. Another malabsorption issue.High CalciumHigh milk intakeRubeola (Measels), Varicella Zoster (Chicken Pox), Cytomegalovirus,Herpes Virus 6 and Hepatitis Viruses with high titersThese are one of Jordan's 3 main issues. These results indicate that Jordan is housing these viruses in his body. The measels especially can play a big role in gut problems and all can play a role in autistic features and neurological problems, etc. This shows that he has a immune system issue.Celiac Panel:Jordan does NOT have celiac disease. He does test positive, however, for inflammation of the gut and decreased immunity. This is a great result, as with inflammation and leaky gut after a few years of the diet and eating well - the gut heals. They can then go back to eating foods again. With Celiac disease it is a lifelong allergy to gluten and it could never be reinstituted.Stool Test:Jordan's stool test was actually really good. His beneficial flora is fine. He shows no imbalances or dysbiotic flora which is unusual for these children. He did show "many yeast". There was no campylobacter. This test also, however, showed inflammation and decreased immunity.
SIDE NOTE ON TYLENOL USEOne dose of Tylenol causes the Phase II de-toxifying process to become dormant for 21 days. So, in English - one dose of Tylenol causes the liver to be unable to rid the body of toxins for 21 days. The doctor said she finds it amazing that you go and have your child immunized and allow them to put all these toxic metals into their body and then they tell you to give Tylenol for the fever that ensues when the Tylenol causes the liver to shut down its detoxifying process for 21 days, thus not allowing the body to get rid of the toxins you just put in! She told us to NEVER use Tylenol, only Motrin. This is fact and can be proven - no one ever thought to check this out though, as Tylenol has been around for years.
Seizures
TYPES OF SEIZURESThe most common seizure types are classified as either partial or generalized. Partial seizures arise from one part of the brain and include "Simple Partial" and "Complex Partial" seizures. Generalized seizures appear to involve the entire brain from the onset and include "Generalized tonic-clonic", "absence", "myoclonic", "tonic" and "atonic" seizures.
PARTIAL TYPESSimple Partial Seizure: Formerly known as focal motor, focal sensory or Jacksonian. This seizure type may be characterized by stiffening or jerking in just one extremity or on one side of the body. It is sometimes accompanied by a tingling sensation in the same area. It may also appear as an aura such as a smell, bright light, or a rising sensation in the stomach. The person does not lose consciousness with this type of seizure. In some individuals, however, the jerking may spread to become a generalized tonic-clonic seizure with loss of awareness and memory of the event.Complex Partial Seizure: Formerly known as psychomotor or temporal lobe. This type is often characterized by purposeless activity. The seizures vary greatly from person to person; however, for each individual they tend to be consistent. This is the type of seizure most likely preceded by an aura or warning. During the seizure the person may have a glassy stare, give no response or a confused response, move about aimlessly, make lip-smacking or chewing motions, fidget with clothes, appear drunk, drugged or even psychotic. Emotional experiences, abnormalities in thinking and unusual sensory perceptions may also occur during these seizures, especially at the beginning. The person is not violent but may struggle or fight if restrained. Usually there is no memory of the seizure afterward, and the individual is often confused. The seizure usually lasts one to three minutes. In some individuals, these seizures can progress into a secondarily generalized tonic-clonic seizure. In rare cases complex partial seizures may involve episodes of behavior that are more startling such as screaming, running, disrobing or exhibiting sudden overwhelming fear. These are brief, temporary episodes and the person will return to usual behavior when the seizure is over.
GENERALIZED TYPESGeneralized Tonic-Clonic: Formerly known as grand mal. This is a generalized convulsive seizure affecting the entire body. There is usually no aura or warning before seizure onset. The person may cry out. This is not a cry of pain but is the result of air rushing out of the lungs. The person falls and becomes unconscious. The body stiffens. Then the muscles begin to alternate periods of spasm and relaxation with jerking motions. The person may bite the tongue. Breathing is labored or jerky and at times stops completely. If this occurs, pale or bluish complexion results. Loss of urine or stool may occur. The person then regains consciousness, but is usually confused or sleepy and may sleep for several hours following a seizure. The entire seizure usually lasts one to three minutes.Absence: Formerly known as petit mal. This consists of brief loss of awareness (one to ten seconds), during which there may be staring, eye blinking or mild facial twitching. No aura or warning is associated with this seizure type. The person usually maintains posture and does not fall. This type of seizure is usually missed because it is so brief and subtle. It is most common in children. A child may experience several hundred of these in a day, greatly affecting his or her ability to pay attention and learn in school. These seizures often stop before adulthood, but sometimes change to generalized tonic-clonic seizures.Atonic Seizures: These cause a sudden loss of muscle tone. In some children all that happens is a sudden drop of the head. Other children may fall suddenly to the ground. Both types of seizures can produce injuries to the face and head and children who have them may have to wear protective helmets until the seizures are controlled. Atonic seizures are sometimes called drop attacks.Myoclonic Seizures: These are brief involuntary muscle jerks. Sometimes they involve the whole body at once; sometimes just the face or arms. A single seizure may occur or they may happen in a cluster, leading to a tonic clonic seizure. Juvenile myoclonic epilepsy, which often starts in adolescence, produces jerking seizures which typically happen on awakening. Sometimes these become convulsion; sometimes they're just muscle jerks.Infantile Spasms: These often occur in clusters in babies, usually beginning before the age of six months. A baby with this condition may look startled or as if he's in pain. He may draw his knees suddenly up to his stomach in a kind of jack knife movement, bringing both arms up at the same time. If he's sitting down, his head and arms fall forward like a kind of salute. These are sometimes called "salaam" seizures because the baby seems to be bowing. Because the babies often bend over and cry at the same time, infantile spasms may be mistaken for colic when they first begin.
Resources
LINKS TO ARTICLEShttp://www.ilae-epilepsy.org/ctf/dravet.html http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=12861511&dopt=Abstract http://dravetdata.com/http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182389http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607208http://emedicine.medscape.com/article/1138539-overviewhttp://www.plosgenetics.org/article/info%3Adoi%2F10.1371%2Fjournal.pgen.1000381
SUPPORT GROUPSDravet Syndrome Support Grouphttp://health.groups.yahoo.com/group/Dravet-Syndrome/?yguid=247463073MDJunction - People Helping Peoplehttp://www.mdjunction.com/epilepsyWe urge you to join these support groups. We havemet some of the most amazing people here. They havebeen a source of strength for us over this past year thatcannot be put into words.
SYMPTOMS OF DRAVET SYNDROME-Intractable seizures of various types (i.e., Tonic/Clonic, Myoclonic, Partial , absence and Atonic with frequent status epilepticus) beginning in the first 12 months of life-Seizures not responsive to standard anticonvulsant drugs-Development stagnates in the second year of life with severe developmental delays and psychomotor retardation is observed usually during the second year after the onset of seizures-Tonic/Clonic seizures during sleep-The affected children will persistently be affected with seizures-Ataxia-Partial seizures disappear and myoclonic jerks disappear or attenuate-Convulsive seizures are mainly localized at the end of the night-Fever remains a triggering factor and can still provoke epileptic status-Neurologic abnormalities remain stable. All patients are cognitively impaired-Children known to have seizures in swimming pools-Seizures with excitement-Seizures with playing outside-Seizures with activity or playing hard-Children known to have seizures in the bath tub Testing and Ways To Diagnose: -SCN1A Gene Mutation-Clinical Presentation
More Dravet Kids
MEET MORE DRAVET KIDS
www.HopeForSydney.com - Sydney Nelsonwww.HopeForAmanda.com - Amanda Niemiwww.butterflybash.com - Ciara O'Driscollwww.rallyforryan.net - Ryan Smithhttp://shazzas.info - Jarod www.freewebs.com/bryanttel - Bryant Weaselwww.ADreamForSarah.com - Sarah Blackwww.amiracleforAlex.org - Alex Dalpewww.danielsdog.com - Daniel Dillardwww.haleyismyhero.com - Haley Smithwww.geocities.com/littlelindsey3 - Lindsey http://charlotteswebpaige.blogspot.com - Charlotte Figihttp://www.freewebs.com/angelaiden/ - Aiden Villas www.alexsjourney.com - Alex Harpole www.achanceforalex.com - Alex Marcou www.margaretstrip.blogspot.com - Margaret Gaer www.wishforangelina.org - Angelina Hentoszhttp://allofusanddravetsyndrome.blogspot.com/ - Nadezhda Bensonhttp://dravetdata.com/personal_stories.htm - Stories on Several Dravet Children
Movies
Jordan's Journey - Dravet Syndrome
JORDAN'S JOURNEY
A documentary about Jordan, and life with Dravet syndrome.
MISSING PIECES
Montage to the song "Missing Pieces" by Mark Leland, depicting life with autism.
Jordan's Video
Helpful Links
SPECIAL NEEDS PHOTOGRAPHY
UPCOMING FUNDRAISER
NON-PROFIT ORGANIZATION
The Dravet Syndrome Foundation (DSF) is a volunteer-based non-profit organization dedicated to aggressively raising research funds for Dravet syndrome and related conditions, while providing support to affected individuals and families. Several established organizations provide helpful services for families struggling to find and provide the best care for their children afflicted with Dravet syndrome and intractable epilepsies.In contrast, we invest our money in syndrome-specific research studies with a novel approach that often have difficulty in obtaining funding through other channels. We pride ourselves on maintaining operating expenses at a minimum to ensure that the generous gift of every donor truly brings us one step closer towards a cure.Organizational and Financial InformationDSF is registered as a tax-exempt public charity by the Internal Revenue Service under Section 501(c)(3). DSF's tax identification number is 27-0924627.
On Saturday, July 23, 2011, the Amend family will be hosting the first annual "Jordan's Ride for Research and Benefit", This event is being held to raise research funds for Dravet syndrome, with proceeds benefitting the Dravet Syndrome Foundation.REGISTRATION - 9:00 AMBarracos Pizza3701 West 95th StreetEvergreen Park, IllinoisBENEFIT - 6:00 PM - 11:30 PMBourbon Street3359 West 115th StreetMerrionette Park, IllinoisCOST:Ride:Adults - $10.00Children - $5.00Benefit:Adults - $30.00Children - $15.00
Cherished Memories Portrait Studio is a one of a kind mobile photography company. We pride ourselves in providing our customers with high-quality portraits, without the high costs that one would expect from a mobile photographycompany. What also makes us unique is, not only do we bring the studio to your home, but we also place a special focus on the special needs community.Having a family member with special needs can make certain aspects of life difficult. One aspect that can cause frustration is having their picture taken. Take a child with autism for example. A photography studio can have many aspectsabout it that can cause sensory overload in a child with autism. They are in a strange environment; there are bright lights; and depending on how many people arewaiting, it can be quite loud.Cherished Memories Portrait Studio has photographers that are experienced indealing with individuals with special needs and have the patience and perseverancethat many general photographers do not have.Our goal is to provide our customers with a stress-free, enjoyable photography experience.
Special Moments
JORDAN'S MAKE A WISH
One of Jordan's favorite things to do is to play at the park. Many times when he goes to the park, he ends up having a seizure, and then wakes up back at home. This makes him very sad, as he wonders what happened that he is no longer at the park.For this reason, Jordan's Make A Wish request was for his own park in his backyard - and Make A Wish came though and provided this wish!
SECRET SANTA!
Christmas Eve 2008I would like to share a very special Christmas story, which now has me convinced that Santa Claus is actually real.Jordan woke up early today. He usually doesn't get up until around 11:00 a.m. or noon. Today he woke up at 7:00 a.m.My husband had to go out to do the last minute stocking stuffer things and pick up some groceries and intended to do this while Jordan was sleeping. Since Jordan woke up early he said he would take him with. I told him to just leave him home because it was kind of cold out and he may want to take a nap with getting up so early. However, Jordan saw my husband put his coat on and immediately went and got his coat and shoes also. How could I tell him no. So, he went along.They went to Wal-Mart and got the stocking stuff. They came out of the building and headed toward the car. Jordan was in the cart and my husband was putting the stuff in the back of our van, when a car pulled up and stopped behind our car. My husband said a caucasian gentleman, clean cut and well spoken got out of the car and said to my husband, "Excuse me sir, but I was wondering if you could help me for a minute?". My husband answered him "Sure man, what do you need?". The gentleman walked to the back door of his car, opened the door and reached in and took out a wrapped gift box. He then said, "Could you please take this for me? I think it would be good for your son?". My husband, sort of in shock, said "Sure, man. What is your name?" The gentleman said "Jim. Merry Christmas." and my husband said "Merry Christmas" and the man drove off.Being the day and age that it is, my husband immediately took his license plate number down on his hand (he is famous for writing on his hand) and then called me. I told him under no circumstances to open that package while him and Jordan were alone. What if there was something harmful in there, like explosives or poisonous gas. He was alone with Jordan and if something happened to him no one would be there for Jordan or able to contact me, and it was Christmas and we didn't need anything bad to happen. Isn't is sad that that is how we first approach an act of kindness?He then flagged down the Wal-Mart security guard and had him stay with him while he opened this package. Inside was a Tickle Me Elmo Extreme doll. The doll that no one can get. The doll that was sold out five minutes after it hit the shelves weeks and weeks ago. Brand new and still in the package.How did this man know Jordan loved Elmo? How did he choose Jordan out of all the families coming out of that store today with their children? How did he know that this little boy deserved such a special toy after all he has been through? How did he know how badly our family needed this act of kindness right now?I believe he must be Santa Claus.Jordan shouldn't even have been awake yet and wasn't even going to be there. I didn't take him for a Santa picture this year because time was running out and I was afraid of exposing him to illness and figured that since he didn't even understand the concept, all it would do was upset him to force him to sit on a stranger's lap. This upset me because I wanted the pictures for memories, but chose not to upset him for my own selfish reasons. There would always be next year. Now I feel, he met Santa after all.I wonder if this man could begin to imagine what Jordan has been through and how special what he did today really was. He didn't just give this awsome toy to any child, he gave it to a special child.This definitely brought back some of the Christmas spirit I was lacking this year.
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