Tuesday

This is my story. My life is complicated and I need an outlet to sift through the thoughts in my head. I hope that my story, my life, in some way might touch another mom's life and give her the strength to go on another day. Super woman I am not. I cry just like everyone else. I just want my story to be heard, and help heal myself, and maybe someone who thinks there is no hope can feel like she is not alone. I am a mom of 2 kids. My son is the picture of health, slightly moody, like mom. My daughter, she is so cute god love her. She was born with a rare genetic disorder. So rare in fact that she is supposedly the only baby in the world with her genetic problem. See, when things happen to the first chromosome it is hard for the body to recover. In fact, she should never have been born. But, I can tell you she is napping beside me as we speak. She has partial trisomy of chromosome 1 with a partial deletion and a true mosaicism. For most of the world that is like speaking greek. For me it was detrimental. It means little hope for first steps and first words and all of those things that moms dream about doing with their little girls. Tri is 3 so she had almost 3 parts to her first chromosome instead of 2. That happened by mosaicism, a duplication or copy of genes, unique to happen all with in the same chromosome, especially the first. The deletion, that's where all the problems begin. There are approximately 50 genes missing from little miss' first chromosome. With the deletion can come problems, she just happened to present with all of the problems. Her brain is malformed. Thickening of the front left lobe, sporadic flattening. No one knows what this means. Usually both don't happen together. She's missing her corpus callosum--the center of her brain. She has a rare seizure disorder. Infantile Spasm Disorder. It is virtually incurable. Very detrimental to the brain. Each seizure causes brain damage. Most of her progress was taken away from her with the onset of the seizures. In the beginning she would have upwards of 30-50 spasms a day. She is better now, down to on a bad day 4-5, on a good day 2. Little miss is on the ketogenic diet to treat the seizures. Out of thousands of dollars worth of drugs, injections of steroids (not fun to inject your kid your self everyday) nothing helped. The diet did. Something as simple as food. It truly is unbelievable. She is severely developmentally delayed. The cognitive part, we think there is more there. She understands pattern, and knows what I mean when I say things, like "are you hungry? Want to eat?". Her little heart is doing better. She had pulmonary stenosis, on the high side of mild. That is looking better though. With the genes that she is missing, kids tend to develop cardio myopothy. She is watched for that. Also with the missing genes she is missing a gene that stops tumors from growing in the belly and pelvis. Every 3 months she is scanned for that as well. So now you can see, I need an outlet. I don't have time for mommy groups, support groups, I am lucky if I have time for a shower everyday. With therapy 3 days a week and the billions of doctor visits, and the diet, although a god send, is very time consuming, i don't have much me time. But, Emma, yes little miss' name is Emma, a.k.a. "cookie", naps, so there is some time to take for myself, and put into words my daily struggles raising 2 kids one with special disabilities. I am Alison and this is my story.