Hi, My name is Oliver. I am 5 years old. My parents expected me to be a normal child, a lifetime companion for my brother. I didn't choose myself to be special. My parents say it was somebody called god who decided that. He also sent me to my family so that I get the best love and care. I can't complain about that. I love my family and they love me. And not to forget my two grannies whom I love dearly.
When I was born everything seemed all right. Admittedly, I cried a lot.Almost all the time. No sleep for mom and dad. With 2 to 3 months a thing called epilepsy came up. The next 4 years I spent a lot of time with doctors, therapists and in hospitals. I didn't like that. Fortunately mom or dad was always at my side. Finally they found the disease SCN8A and told us that there is no cure. I get medication for epilepsy. But I still have these seizures. I don't really know what's happening with me then and my parent's always seem very worried.
I am a very content and cheerful child. But I need help with everything. Eating, lying down, tooth brushing, getting dressed. I can't even crawl or turn myself. I always have to wait for somebody to help me. It's not that I am lazy but I just don't know how to do it myself. As I can't talk I have to reward my parents now and then with hearty laughing. That makes them really happy. With eating I have to be careful not to choke on something. When I get a coughing fit in a restaurant you can be sure that everybody knows that I am there.
My family wonders what I can see or hear. With seeing I am not sure myself. But of course I can hear. I love the voices of my family. Especially the voice of my brother. I like to have other kids around and to listen to music. The thing that I like best of all is to cuddle with my family.
Since one year I am in a special kindergarten. I like that. We do funny and interesting things. Of course we also do interesting things at home. My parents take me everywhere. We go cycling, hiking, make boat trips and so on. Every summer we make a family vacation. Just the four of us. That'sgreat.
Hi, my name is Julia. Sometimes my mommy and daddy call me JulieBug. I am a very happy little girl who loves her family. I have a big brother named Jacob and a baby brother and sister named Joseph and Joslyn, they are twins. I love when my big brother gets on the floor and gives me toys to play with, he makes me laugh. I also love it when I hear my baby brother and sister playing, they make me laugh too. I have been through a lot in my two and a half years of life. My mommy and daddy have tried to help me find answers to why I am so unique, but I know that God made me this way for a reason. I have seen many special doctors in the past, but none of them really know what to do to help me. They just try different medications to see if they help me. Some medications have helped me and some of the medications have put me in the hospital. I am thankful that God still wants me to be here. My mommy tells me that God has big plans for me, I can't wait to see what they are. Thank you for reading my story.
Julia's journey has had many ups and downs and has been an emotional rollercoaster.Julia spent ten days in the NICU because they thought she was having seizures. After hours of EEG and VEEG testing, an MRI, Lumbar Puncture and other blood tests Julia was discharged without a diagnosis. At three months old she spent another ten days in the hospital where another MRI, Lumbar Puncture and other tests done. Julia was discharged with a diagnosis of 'encephalopathy' and 'seizure disorder'. We later learned that Julia has 'partial agenesis of the corpus callosum'. At eleven months Julia had the Nissen/G-tube surgery. At seven months old EEG results revealed 'Generalized slowing consistent with encephalopathy. Frequent discharge consistent with low thresholds for seizures and likely seizure disorder'. At ten months old MRI result revealed 'Abnormal myelination in the brainstem, diencephalon and probably optic radiations, reduced white matter and questionable cerebellar hypoplasia. Findings suggest a congenital metabolic or developmental disorder'. Also at ten months old Julia had the Chromosome Microarray genetic test which revealed Julia has Chromosome Duplication 6p22.2. At nineteen months old Julia was diagnosed with 'Cortical Blindness'. Julia's SCN8A diagnosis also came at nineteen months old after the Exome Sequencing genetic test was done. To sum it up Julia has had two hospital stays in 2013, four hospital stays in 2014, and nine hospital stays in 2015. Julia also had her second surgery in 2015, the tracheostomy surgery, this surgery is not one her father and I wanted done, but our only other options were 'end of life care'.
Hi, my name is Lily and I’m almost 18 years old. I have a 22-year-old sister named Megan and a 24-year-old brother named Jake. I also have 6 dogs that love to kiss and snuggle with me. I am currently a sophomore in high school and love all my friends at school. While I’m at school I get to work at a local grocery store as a greeter a couple of hours a day. I also get to “assist” my nurse when she does glucose checks and helps students who are sick or injured. Really I just get to socialize with everyone in the school office, which I love.
When I was born I came out having a seizure and spent 5 days in the neonatal intensive care unit. I didn’t have another seizure until I came home but wasn’t diagnosed with a seizure disorder until I was a month old. I don’t like seizures because I stop breathing when I have them and I get very sleepy when they are over. I used to love to eat food, but when I started having clusters of seizures I became too weak to eat so they put in a feeding tube and I can no longer eat by mouth. I used to love to roll on the floor and take steps when someone helped me, but now I have to use a wheelchair and my mom, dad and siblings have to provide all my care.
My seizures are better but there are still some times that I must stay in the hospital which I do not like, and sometimes the seizures make me so weak and tired all I can do is lay there. Thankfully, right now I am doing well and am very happy and very vocal, which seems to make everyone happy. My parent’s said that no matter what, they want me to experience life so they take me everywhere even though that can be a challenge sometimes.
When I was 15, I was told I have something called SCN8A, which causes all my seizures. Unfortunately, they don’t know much about it, so there is no cure or official treatment, but I hope with research there will be help for us in the future.
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