Haley's Story (Birth to 14)
Haley was born on August 20th. It was an easy, healthy pregnancy and uneventful delivery. Haley developed normally and was a happy little girl. On January 29 around 5 PM, the lives we knew forever changed. At the time we did not know how much they would change. At five months old (in the picture to the right, she is five months old) Haley experienced her first grand mal seizure on her changing table. I was taking her temperature rectally because she looked flushed and the ear thermometer read 96.3. While I was taking her temperature she started to convulse and her eyes rolled back in her head. My husband and I rushed her to the ER which was about eight minutes from our home. She did not stop seizing for over 25 minutes. The ER staff finally got the convulsions under control and ran numerous tests on our little baby. Fortunately the pediatrician on call, Dr. Barbara Kahler, was already at the ER and was there to answer any and all questions. By the time we left the ER it was close to midnight. Haley was diagnosed with an ear infection. We were told that the seizures were probably febrile (seizures brought on by a temperature). We were told that febrile seizures were common, but not at this young age.
So life went on?.Haley continued developing normally. Then on my first Mother?s day weekend we were rushing back to the ER. This time she started to seize while she was in her highchair at a friend?s marina. The seizure started out to be generalized (involving the entire body) then focalized on her left side. This seizure lasted over 45 minutes. After stabilizing Haley, Dr. Kahler and the ER staff decided to have her transported to Richmond, VA to the Medical College of Virginia (MCV) hospital. We had to wait for a pediatric ICU team ambulance to drive from Richmond (an hour and twenty minutes) to come and get us. I never in my wildest dreams thought that motherhood would bring these events. We arrived at MCV at 2 AM and were admitted to a room. They ran tests on Haley all night including a spinal tap. The next day there were more tests. We ended up staying all weekend at the hospital and coming home not knowing any more than it was another febrile seizure. After this second seizure our lives would never be the same. For me, going anywhere with Haley was stressful.
I was constantly worried about if she had a seizure in this setting or that setting, how would I handle it? Any noise that sounded like a seizure made me jump and my heart was in my throat. I was always on pins and needles. For the rest of 2001 Haley would have three more tonic-clonic seizures. None of these thankfully went into status epilepticus (a seizure lasting over five minutes or repeated seizures without time to recover to consciousness). All of the seizures in that first 12-month period were traced to a fever caused by an ear infection (all but one, one was a Urinary tract infection.)
After our hospitalization we saw the attending neurologist at MCV. I was not pleased with him for many reasons and asked for a second opinion before we started Haley on Phenobarbital. Our second opinion took us to Children?s Hospital of the Kings Daughters in Norfolk, VA when Haley was 15 months old. We saw Dr. Ralph Northam (now Virginia State Senator Ralph Northam, M.D.). He was wonderful. He had great bedside manner and thought we should wait for medication. To him at that time Haley was developing normally and was a bright little girl with curls. She could speak in sentences and almost say her ABC?s. She also knew most of her letters, numbers and shapes. Dr. Northam was the first to prescribe Diastat Acudial rectal syringes. This is a rectal valium delivery system that could stop the seizures if they lasted over 5 minutes. What a blessing that was for us, but it came at a great expense! When we started using them in 2001 we paid about $86.00 for two syringes with 5mg of medication. Now in 2008 we pay $115.00 for two syringes with 10mg of diazepam. That is our co-pay with insurance. Last year, 2007, we hit our drug cap in July due to the number of syringes we used! This year if we hit our prescription cap in June and had to pay $175 for ONE syringe! We have administered the syringes at least 6 times a month on average.) Even though the medication in these syringes cost pennies the pharmaceutical company behind Diastat Acudial feels justified in charging the price they do because ?they are saving you a trip to the ER?.
From 2001 to Fall of 2003 we were with Dr. Northam. He followed her carefully screening her with EEG?s and MRI?s regularly. He even got us in a study for Trileptal to get a video EEG when she was about 2 ½ years old. The longest Haley has gone without a seizure since she was born was during our time with Dr. Northam. She went four months in 2002 without one convulsion. This happened after she had tubes put in her ears. We thought we had finally solved the problem of the febrile seizures?get rid of the ear infections. During this time with no seizures our guard came down. Bobby and I decided we would like to have ONE more child.
They say that if you want to make God laugh, make plans. So we were planning on one more child and Haley not to have any more seizures. Right about the time I got pregnant, Haley?s seizures were back. The four months seizure free was too good to be true. I will never forget the week I term the medical week from ?heck?! That week we went to confirm the pregnancy on a Monday. The sonographer was not there so we could not have an ultrasound and I was asked to return later in the week. Since Haley had a ?well child? visit on Wednesday with her pediatrician we scheduled the ultrasound the same day. Bobby would not go with me because he had to work. (All of the appointments were in Richmond, an hour an twenty minute drive) That night Haley had a seizure and for the first time in over a year and a half we did not take her to the ER. We stayed in touch with her doctor by phone overnight and went back to Richmond (Mechanicsville) the next day to make sure Haley was ?well? for her ?well-child? appointment the next day, August 20, 2002, was Haley?s second birthday. It was determined
by the rash on her back she had a viral illness and we could come back tomorrow for her scheduled appointment. On Wednesday, Haley and I jumped back in the car and drove back to Richmond to do my ultrasound, her doctor?s appointment, and shopping for her weekend?s birthday bash at our house. We went to my appointment first. I was very stressed because they were running late and when it was my turn the tech was taking soooo long! When she turned the monitor to me and asked me if I ?would like to see your baaaabies????wait?let me look for a third?.? It was then, I realized why. I was in shock and said she better NOT find a third! Twins do not run in either of our families. I was so stunned by the news, I was halfway across Richmond when I realized I did not stop and check out after my appointment.
Another part of the making plans makes God laugh is I never wanted three children because I did not want a middle child. Well, I got three and there is not really a middle child, LOL! I decided not to tell Bobby over the phone about our expanding family. My mom asked me to video tape his response because she wanted to see it firsthand. (I did and surprisingly enough, that video made it onto America?s Funniest Home Videos and placed third. It was an awful trip! Haley ended up in Children?s Hospital in Los Angeles and never made it to the taping.) On Friday, Haley had another seizure due to an ear infection. This was the first time she had two seizures in week. Looking back that was nothing; in the years to come she would have over 20 grand mals in one day! She did go to the ER with that seizure. Then on Saturday was her big birthday bash and she broke her arm, back to the ER we went. As one of my clients said to me after that week, ?God gives you two more children and you go and ?break? the one you have!? We felt like the world?s worst parents! During this week we also called Dr. Northam and requested Haley be put on medication?we could not stand the uncontrolled seizures any longer!
At two years old, Haley was still developing normally and was ahead of her peers in many ways. She could write her name and knew all her letters. She knew most of her shapes and numbers. The one number she knew the most was ?24??which to Haley is, ?Jeff Gordon, my favorite racer!? They way she wrote her name back when she was two is still about the same way she writes it today, each letter is all over the paper, sometimes backward, sometimes not. It was not very noticeable that her learning slowed down. Dr. Kahler, her pediatrician, assumed it was due to the medications she had been on and she had been on a bunch. In August 2002 she started Tegretol, that did not work and we went to Phenobarbital, Depakote, Tileptal, Topamax (which made her lose her speech) Lamictal (which made things worse)! Up until we did Lamictal we were on a mono-therapy drug program, but while on Lamictal we added Keppra. Since then we have always had more than one drug. Haley has been on almost everything available on the market! The other drugs that have been tried and have been unsuccessful are Tranxene, Zonegran (another one that made her lose her speech), Dilantin, Ativan (as a daily drug), Felbatol (this one has a side effect of Aplastic Anemia, scary!) Felbaltol was the first medication that the doctor actually asked us to think about prior to prescribing. This is due to the fact the medication was pulled from the market in the 1990?s. Keppra made our very mild mannered, affectionate child was sent home from school one day early due the affects of this medication. She hit children in her class with scissors, sprayed the plant spraying water bottle around the class and then scrubbed that area using the nail brush, and she was ?trying to put pencils (pointy end first) into her belly?. All of this was truly out of character for Haley. Once the drug was removed our loving, affectionate little girl is back! We have constantly juggled medications. Presently we are back to Depakote, Felbatol (which causes Haley not to eat) and Klonopin also called Clorazapam. Still we have little to no control.
In November 2003, we left Dr. Northam. He referred us to Dr. Eric Kossoff at Johns Hopkins. We were bound and determined to get Haley on the Ketogenic diet which is a high fat , low protein, low carb diet that is very, very strict. Since you have to be hospitalized for a week to start the diet there was a waiting list. However, Dr. Kossoff offered us to be in his Modified Atkins Diet study. It made sense for us to try this stair step approach to changing Haley?s diet. So we tried the Atkins diet, but to no avail. Haley was the only child who left the Atkins study to go to the Ketogenic diet. Hindsight, tells us that even if the diet was working we would have not known because we had been put back onto Lamictal by Dr. Kossoff. He insisted we try it again, even when I said that the last time we were on that drug the seizures increased as the dosage increased. All he said to me was?that is not a side effect of this drug! In September 2004 after returning from our trip to America?s Funniest Home Videos, we went to Johns Hopkins and started the Ketogenic diet. At first it looked like it might be doing the trick, but unknown to Dr. Kossoff and us we had stacked the deck against us. Again hindsight is 20/20! Haley was on Traxene, Dilantin, and Lamictal at the time. The Dilantin and Lamictal are known to make kids with Haley?s condition worse. The Tranxene is valium-like drug and prevented rescue drugs from working to stop the seizures. With this in mind you will understand why from January 2005 to April 2005 we spent one day week in the ER with uncontrolled seizures (up to 30 one day), status epilepticus. We had many hospitalizations and even hit our ambulance cap that year. The routine was the same?we would go into the ER, they would call Dr. Kossoff, Haley would be loaded with Phenobarbital, and send us home or we would be sent by ambulance to Norfolk, VA. Then one week later we would be back in the ER again. We figured out that she might be going through Phenobarbital withdrawal and so we started trying Dilantin, if we had only known the damage we were doing?.
By April 2005 Haley?s delays were very apparent. She could not walk with a normal gait; she drooled, and was extremely lethargic. Basically our bubbly, beautiful, happy child was a zombie. Bobby and I were a mess too! With all of this going on we had twin boys that had been born 7 ½ weeks early and were getting little sleep. In retrospect, I wonder how we survived! When we finally left Dr. Kossoff in July 2005, we discovered Haley?s drug levels were 2-4 times the therapeutic dose. Our time at Hopkins was the worst experience during this whole journey. My biggest complaint is that this doctor would never listen to the other ?M.D.? in the room, the ?mommy doctor? who knew the patient better than he could ever imagine. If he had listened, we may have gotten a diagnosis earlier.
In June 2005 we were already getting our ?fourth? opinion. We were back where we started, MCV in Richmond. We saw Dr. Jack Pellock, the head of the pediatric neurology department, who decided, ?Let?s start all over.? We were off to do more testing! So within three months time we were had a MRI and a 72-hour video EEG. After our video-EEG, a very non-compassionate doctor read off our options as if he was reading the ?day?s special? at a restaurant. The first option is to revisit drugs that she has been on before, the second option is Vagus Nerve Stimulation surgery (implant a device like a pace maker to the vagus nerve), and the third option is a corpus colostomy (where they would sever the hemispheres of her brain up to 2/3. This would not stop the seizures; it would just prevent them from spreading to both sides of the brain.) Needless to say, option number three did not sound like a good option to me. So we went forward with option number one. We revisited Depakote and then we tried was the questionable medication, Felbatol.
Haley continued to have seizures. From the time she was two years old, one of the triggers for her seizures seemed to be any change in temperature either internal or external. Fevers were still the biggest culprit for sending Haley into convulsions. However, if she ran around and overheated she would have a seizure. This prevented her from being in most activities. She would also seize if she had a sudden chill, like when the wind came across the water on a cool day, down she would go into a grand mal. Since we live on the water near the Chesapeake Bay this was a daily issue. Even getting out of the bath tub would send her into a seizure. In the summer of 2007 Dr. Pellock was scratching his head, he said it has been two years, let?s go back and retest her and dot all our ?I?s? and cross all our ?T?s. This time he added a genetic test to the repertoire. He asked me to go the internet and look up SCN1A mutation and SMEI (Severe Myoclonic Epilepsy of Infancy). When I got home I immediately went to the computer and looked it all up and for the first time it was like reading Haley?s autobiography. We had the genetic testing done in August and in September 2007, after six and a half years of uncontrolled seizures we finally had a positive diagnosis. Haley has Dravet syndrome (Pronounced "dra-vay").
With the diagnosis of Dravet came peace. We knew "why" she had seizures, but we still do not know "how" to stop the seizures". With Dravet syndrome there is not known cure. There are no drugs known to help these children. Many of the drugs can make the seizures worse. We experienced that over and over with Lamictal and Dilantin. We are now waiting for the next drug to gain FDA approval. When the IDEA League (The International Dravet syndrome and Epilepsy Action League), now called Dravet.org contacted the National Organization of Rare Diseases (NORD) to see if they would pick up a drug from France as an orphan drug for Dravet syndrome, NORD told them they had never hear of Dravet syndrome. Guess we must be really rare! Just last month, with the determination of many Dravet.org moms and the assistance of KM Pharmaceuticals, NORD approved Orphan status of Stiripentol for Dravet syndrome. Now Dravet.org is headed to the FDA for approval. It is amazing what a group of dedicated and passionate parents can do together. We are called "Tiger Parents". (A father from Greece wrote a poem with that title) Dravet.org has been our lifeline. Through their family forum we have gained so much knowledge and support. Life would be much more difficult without them.
UPDATE JANUARY 2015: I wanted to add to Haley story since I first published this page in 2008. Six years have gone by and it has been a series of peaks and valleys and we have learned a lot. I will just hit the "highlights"....In 2010 Haley had corrective surgery on her feet. She spent six weeks in casts. We definitely gained more stability from the seizure and her feet looked "nicer" for awhile. However, at this point the feet have collapsed back. I do not in any way regret our decision to have her seizures worked on. She is still much better with her gait than some Dravet children.
Up until 2013 Haley's seizure control was "manageable". She was having up to 300 seizures a year and we could live with that. However, towards the end of 2012 her seizures took at dramatic turn for the worse. We found ourselves back in the Emergency room with some regularity. In 2013, Haley was hospitalized four times in the first two months of the year. Clustering seizures was the reason and the "emergency drugs" were NOT working at all! After trying different rescue drugs, our neurologist finally prescribed Versed to be used as an Inter-muscular injection. The first time we were to use it we were advised to take her to the ER for observation. It was a night in January, Haley had several seizures, we gave her 20 mg. of Diazepam, more seizures, we then gave her the 5mg of Versed and packed her up to be "observed" at our ER. We had a wonderful ER doc who said, "I don't know much about Dravet syndrome. If you don't mind we can work this together...when you feel uncomfortable here, we will transport...but hopefully you are just here for observation.." Unfortunately, we were not. She had a seizure 45 minutes after arrival, then another 30 minutes later and another one after that. After each seizure in the ER they loaded her with 4mg Ativan. We were raced to our larger hospital and she remained seizure-free for the hour ambulance ride. Upon arrival at the ER, the seizures picked up again. A loading boulus of Keppra finally stopped the cluster.
After a couple of nights like the one described, we decided to try a Vagus Nerve Stimulator (VNS). In May 2013, we had the stimulator implanted. Haley did fine. She was recovering nicely and then in July I noticed her wound under her arm opening up. We went in for a check and the thought was she was allergic to the dissolving sutures. We were put on antibiotics and sent home. Two weeks later the neck wound erupted. We went back to the hospital and they did emergency surgery to flush out the wound sites and stitch back up. Unfortunately this did not do the trick. We were back once more before being admitted to have the device cleaned out again or removed. It was found to be very infected and had to be completely removed, leads and all. Fortunately in October we were able to replace the whole device and we are so glad we did. The VNS has definitely lessened the need for rescue drugs. We ended 2013 with over 800 seizures an increase that more than doubled what Haley experienced in 2012.
In addition to fighting Haley's school system for proper services....long story....in 2014 we joined the many Dravet families that were approaching their legislators for a chance to legalize medical cannabis. In February of 2014 Haley's neurologist told us there was nothing left for her to try. He went on further to say her medications were all at their highest levels and her VNS settings could not go any higher. We had these findings confirmed after a long consultation with Dr. Linda Laux in Chicago. She concurred there was nothing left....that was legal. Her "future plans" for Haley were to get her enrolled in a medical cannabis study or to try Fenfluramine (not available in the US at this time) study. In October of 2014 we took Haley to Colorado to enroll her in a Hemp Oil study looking at the DNA of children with Dravet syndrome and how that plays a role in the effectiveness of the oil. Unfortunately due to the legislative "gray area" the oils could not be shipped to us. We also found out that month there was a chance Haley's doctor could enroll Haley in the Epiliodex study right here in VA as early as February 2015. In November 2014 we had Video EEG. During this we discovered that in addition to the visible convulsive/motor seizures that we see almost daily, Haley is having several myoclonic jerks in her sleep and while she is awake. My concern is at what point will she be in a continual seizure?? We ended 2014 with a lot of prayer for what we should do with the two studies, how we were going to approach the legislators, and how we were going to help our daughter. Her seizure count for 2014 was 1,023. Those were only the visible motor seizures that we could see.
Here we are in the first weeks of 2015, praying and hoping this will be a year to lower the seizures.
Thank you for reading this far...