Did you know the name Isaak means “he laughs”?
Isaak my son was full of laughter and had the cutest giggle ever. When I found out I was having a little boy I was so very joyous, I made plans in my head for Isaak to play ball and me cheer from the sidelines. I had amazing hopes and dreams for my beautiful boy, the day he was born was a day I had looked forward too for months. As he was born he struggled from the first moments of life. His first few moments on this earth where very scary and when I finally heard his cry, I breathed a sigh of relief. I was joyous thinking “oh thank god he will be ok”, that all changed within 4 hours! Isaak stopped breathing at 4 hours old, and I ran screaming down the hall for the nurse. He was instantly taken from me and they placed him in the nursery to get him breathing and there he stayed the first week of his life. After a week they felt secure enough to let us take him home, and then the adventure began. Isaak failed to thrive and I kept taking him into the doctors begging for help, nobody listened! He would projectile vomit 5ft puddles every time he ate. At 2 months he was still birth weight, we were admitted to the hospital. That was our first stay of many they found a formula he tolerated the best and finally seemed to be gaining some weight, but developmentally he kept falling further and further behind. At age 3 after traveling many times to the children’s hospital, seeing many, many doctors they finally put in a feeding tube. Isaak started gaining weight and making some progress, yet still no answers as what was wrong with my sweet boy.
At age 3 he could barely sit up, couldn’t grasp toys, and didn’t make any of his milestones at appropriate times. Isaak just kept falling further and further behind. Isaak was prone to upper respiratory infections and had a chronic sinus infection, as well as his digestive system didn’t process correctly and Isaak had chronic constipation and impactions. We lived at the doctors’ offices and hospitals, at therapy centers we were in and out trying to figure out what was wrong with our dear son. At age 6 entered the seizures, Isaak had 3 different types of seizure and they took even more of a toll on him because the skills he gained the onset if seizures took away. One day at age 7 we took Isaak to see our neurologist, and he asked me if we could retest Isaak for genetic conditions as he thought he might finally know what was affecting Isaak. I jumped at the chance and after years of no answers, the answers came that we had been waiting for. Isaak had Mecp2 duplication syndrome, at the doctor they have you this little brochure that feels like a death sentence. You read it and you realize your child has all of the symptoms, and you do research and you learn over half died before 13. You think not my child, he had fought and overcome so much my son will not die. A year later we find ourselves being air lifted and our son fighting for his life. A year after diagnosis mecp2 claimed another of our children, mecp2 claimed MY child. Mecp2 claimed my son Isaak, the little boy who was so full of smiles and laughter. It claimed my son, my hope, and my dreams.
If you’re reading this please help our families by donating to the 401 project, this is real and it is claiming the lives of our children. As I’m writing this I am in fear of how many more young children this will claim, please help us we need to raise the funds to cure the children affected by mecp2 before more families lose their children. Today marks a year since Isaak gained his wings, please honor Isaak’s life today by donating if you are able.
All donations to the Rett Syndrome Research Trust are tax deductible.
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