stories-daniel

Daniel’s Story

Daniel was born February 8, 1999. 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 (Vagus 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 vagus 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 though we did replace it, but since then have thought that if it goes out again we will not replace it again. 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 through 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 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.

 

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 his webpage: www.danielsdog.com 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.