Kim’s Story
This is our story: Ryan was born December 22, 1998. He was a full term baby. There were no problems during the pregnancy. The initial Down Syndrome test for Ryan was positive, but with further testing this proved not to be the case. He weighed 8lbs 9 oz. via C-Section. Ryan lived his first 8 months of life as normal as any new baby. He was reaching all his milestones, sitting up, rolling, laughing, etc. He was eating well and cutting teeth.
August 4, 1999, was the day that would change our lives forever. Ryan had his first seizure. It was the longest 5 minutes of my life. The ambulance took him to the hospital. The hospital ran some tests and determined that he had a virus. They told me that he had had a febrile seizure, in other words, a seizure with a fever. More than likely he would not have another seizure.
Between August 1999 and January of 2000, Ryan had 5 more seizures, all due to fever. At the end of January of 2000, Ryan had a seizure without a fever. He was then put on his first Anti-convulsant medicine, Phenobarbital. This began a long road of hospital stays, emergency room visits, and a long list of failed medicines, which included Phenobarbital, Tegretol, Topamax, Keppra, Depakote, Zonegran, Lamictol, Dilantin, Felbatol, and thousands of seizures. Many seizures lasted more than 10 minutes and sometimes even 1-2 hours. Ryan was sensitive to heat, so that a sudden change in temperature would cause a seizure. Fevers were still a cause of many seizures. Any indication of illness would cause seizures. The glare from the sun off the water would cause seizures. Being over-excited or being at family gatherings would cause Ryan to have a seizure. Ryan continued to reach all his milestones up to the age of 3 years old. Unfortunately, his seizures got worse. He was put on medications that we know now can aggravate seizures in children with Dravet Syndrome, Lamictol and Dilantin. He lost the majority of his speech and the ability to learn the way children at his age should. He regressed 2 years.
In August 2003, when Ryan was 4, we decided to try the ketogenic diet. This is a high fat, low-carb diet. He was put in the hospital for a week to get his brain to start making ketones, with the hope that eventually this would become a natural anti-epileptic medicine. This involved at least 24 hours of no food, Sprite at the most. This diet is very stressful and requires lots of dedication. Unfortunately, this did not work for Ryan. At the age of 5, we tried the Vagus Nerve Stimulator or VNS, which required surgery to implant a device near the vagus nerve, and a magnet on the chest. In 2008, we decided to turn the VNS off. It just was not giving him the relief from the seizures that we had hoped for. At the age of 8, Ryan’s doctor was undecided as to what to do next.
In March of 2007, we decided to run some tests to see if Ryan would be a candidate for surgery. We were in the hospital for a week. They did all the pre-surgical testing. Ryan’s doctor called me and told me that surgery was not going to be an option for Ryan. His seizures were coming from all over his brain. Ryan has what is called Dravet Syndrome, a catastrophic, rare form of epilepsy. There is no cure. He told me I was looking at a lifetime of care for Ryan and that he would always have seizures. To most people this would have been a shock. But for me this was a relief. There was a reason for my son’s condition. Now I could learn to deal with what had been given to me on a different level. Now I could continue to look for answers and advocate for him. In August of 2007, Ryan was tested for the gene mutation that causes Dravet Syndrome. The test came back positive as a “Mis-sense Mutation”. We are still awaiting the explanation of this result.
Since Ryan’s diagnosis of Dravet Syndrome, he has also been diagnosed with neurological disorders, Autism Spectrum Disorder, Obsessive Compulsive Disorder, Sensory Integrative Disorder, developmental delays in speech and with gross and fine motor skills. We have sought therapy for the Sensory Integration Disorder, along with Speech and Occupational Therapy. He is also participating in Neurofeedback Therapy, a program in which we have seen a great improvement in his speech. Ryan was also granted a wish from the Make-A-Wish foundation in October of 2008. He was given a week in Orlando, Florida to visit the Magic Kingdom and meet Mickey Mouse. We also visited Sea World and Universal Studios.
We have found the support of the Idea League . They are the International Dravet syndrome Epilepsy Action League, a partnership of parents and professionals. The league was founded by parents in October 2005, dedicated to creating greater awareness of Dravet syndrome and the need for a cure. They have been my lifeline as I have learned to deal with this devastating condition. Their goal is to share information in order to prevent severe neurological damage and to have a better outcome.
Ryan still continues to have seizures almost every night while asleep, nocturnal seizures. He may have one or he may of 9. His current cocktail of meds consists of Triple Bromide, Topamax, Depakote and Clobazam, all for his seizures. He now functions at a 3-4 year old level. He still cannot write his name and sometimes can count to 20 with 13-15 sounding like the same number. We are trying our best to prepare him for the future. Ryan will continue to need care for the rest of his life. His medical expenses will continue to rise. As he gets older, we will have to accommodate for his needs. But all that is nothing compared to the gift he has given to us. Ryan is such a blessing and wonderful joy to have in our lives. He has taught me about how life is what you make it, and not to fret over the little things. He has taught me that life is precious and every day is special. The most important thing he has taught me is patience. Being the mother of a special needs child has brought me joy and it has brought me sorrow, but I wouldn’t change it for the world. I had so many hopes and dreams for Ryan before his diagnosis. I still have hopes and dreams for him; it’s just that they are a little different now.
Our travels have not been easy, but the road is one that we live each and every day. He teaches us that life is short, thus we should live each day to its fullest. We must get the message out so that one day Dravet Syndrome will be well known and other children will be diagnosed early so that they can get the correct treatments. Thank you for taking the time to read Ryan’s Story. I hope Ryan has inspired you as much as he has inspired me.
“Ryan, One day I hope you Dance!”