Daniel’s Story

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Daniel was born February 8, 1999. He was a full term baby, delivered naturally weighing 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 when 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. 

The Seizures Begin

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 doctor 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 doctor put him on Tegretol an anti-epileptic drug. 

The second seizure happened during the day when he was about 3 months old. He went into a status seizure - it just kept going and he couldn’t breathe. We had to give CPR until the ambulance arrived. They took him to the hospital. 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 have to put the breathing tube in. We were so relieved. Daniel 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.

Various Treatment Options

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. 

The VNS lasted until March 2008. His seizures were increasing, and he was 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 VNS 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 the VNS, but since then have thought that if it goes out again we will not replace it. The VNS has not been that effective lately and is certainly not keeping the seizures away. 

In October 2004 Daniel was now 5 ½. We decided to try him on the ketogenic 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 - high fat, low carb. This diet requires you to weigh the special food to a tenth of a gram and be administered 3 times a day at a specific time. 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.

The Seizures Get Worse

It was about this time that Daniel developed photosentive seizures.This means that he would have a seizure if he went out in the sun, looked too closely at a TV or computer screen. Looking at  small stripes or window screens would also trigger a seizure. Currently, Daniel still has problems with certain patterns and the sun. He has to wear polarized sunglasses and a hat at all times when he is outside. He cannot get overheated because his body does not regulate his temperature well and he will have a seizure. We can not take him into some stores or restaurants due to the nature of decor or patterns that will trigger seizures. We are constantly vigilant in being aware of his surroundings. 

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, Topimax, and Keppra, Clonazepam, Lamictal  to name a few. He was still having 50 to 100 myoclonic seizures a day. He was also having complex partial and grand mals at night.  

In May of 2009 we took Daniel to the Cleveland Clinic in Cleveland, Ohio. The doctors 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 had at least one to three seizures a night, with most lasting over 5 minutes and had to be given Diastat to stop them. They were able to see him having 3 types of seizures every night. He also had about 50 -100 small seizures during the day (these are usually seen as small eye flutters). They put him on a new medicine called Zarontin, and 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 and  were negative for this genetic defect. So we now have a diagnosis for Daniel after 10 years of looking and hoping!

The Diagnosis

Having the mutation on the SCN1A gene and the many types of seizures that he has led us to a diagnosis of Dravet's Syndrome. Dravet's Syndrome is a very severe form of epilepsy. There is no cure, so 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. There are some other drugs that are known to be helpful to  Dravet children, but they are very expensive. They are Stiripentol and Clobazam. These medications 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.

Daniel has severe developmental delays and some autistic traits. He is 10 years old but with the mental ability of a 4 year old. He is verbal but does not have good comprehension or communication skills. He needs watching 24/7 days a week. He can never be left alone. He gets some Speech Therapy and Occupational Therapy and has been diagnosed with very lax joints all over his body. He wears orthotic boots on his feet to help him walk and will need to be reevlauated the rest of his life for adjustments. His feet are so flat that his ankles actually touch the floor when he walks without supports. This has caused his right foot to turn out and his knee to be hyper extended. We will have to keep this monitored as he continues to grow.

International Dravet Syndrome Epilepsy Action (IDEA) League

We have found the support of the IDEA League.  They are the International Dravet syndrome Epilepsy Action League partnership of parents and professionals. The league was founded by parents in October 2005.  An organization that is dedicated to Dravet syndrome and creating greater awareness. We have learned so much from other parents of children with this illness. We hope to 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. 

4 Paws For Ability

We also found another great organization called 4 Paws For Ability that provides children like Daniel with seizure assistance dogs. This dog would be able to alert us before the seizure happened, therefore helping him get to a safe position before it starts. It can also be trained to track him if he gets lost, keep him tethered to the dog and safe in crowded situations and help calm him during stressful times.

Not only will the dog help him with his seizures, but will be a constant friend. It is very hard for Daniel to have friends due to his illness. He is a very sweet, kind child. He loves to talk on the telephone to his Grandma! He loves fire trucks, construction equipment, and playing in the dirt.   

It is very hard to sleep well when you know your child will need your help at some time during the night. He still has Nocturnal seizures every night, sometimes more than one.  Not only is he tired afterword but so is Mom and Dad.  We hope the addition of the seizure dog will help us rest a little better. It can also help him at school, by alerting the teachers to a seizure before it starts.  The dog will help keep him from getting hurt during a seizure.

Daniel's new seizure alert dog is named Dove! She was born 9-9-2009. He met her on Sept. 14, 2010 on the first day of training at 4 Paws For Ability in Xenia, Ohio.  The training was rigorous, but well worth it. Dove is a beautiful Yellow Labrador. She is very smart and even though we have only had her a short time. She has alerted for a seizure on two occasions. We are hopeful that as Daniel and Dove continue to bond more, that Dove will alert more readily to his seizures.

Family and Friends

Daniel has a wonderful big sister whom he loves very much. She is almost 14 and in high school now. She loves to play basketball, read books, and play games on the computer. She also likes to do modeling. 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.