When you are awaiting the arrival of your new baby there aren’t enough words to describe the joy you feel. The anticipation grows inside of you along with your baby. Then that blessed day comes, however it isn’t as you imagined it would be. Your little angel comes into the world only he isn’t crying like the babies on the television, he isn’t kicking or flailing his arms about. Instead your baby is virtually silent, “floppy,” and as hard as you try he just won’t eat. This being your first child you think this will pass. Then the nurse comes into your room and without any warning or emotion says that your baby is being taken to the NICU. That is how it all starts, that is how your journey begins. As the years pass you know that there is something plaguing your little one but you can’t find the cause. You spend all your time researching, going to doctors, and subjecting this precious little soul to more blood tests than any one person should have to endure. You hear the same thing over and over again, “Your child is fine, your over-reacting, he is just big because he eats too much.” Your heart breaks every time another test comes back and says he is fine, because you know in the deep part of your soul that he isn’t.
This is my life and this is how I have spent the last three years. It was only after 32 months of searching for a diagnosis was one finally delivered. The devastating news was delivered via telephone on September the 14th of 2009. When I got the call I think I already knew what that voice on the other end would say. “Listen,” oh I knew what was coming next. “I have bad news Blaise has a 15q deletion.” I already knew what that was. I knew that a 15q deletion meant that my son had Prader-Willi Syndrome. Those three words had haunted me for close to two years. It had already been brought up and explored. We worried about the possibility, but we were told his chromosomes were fine. No, indeed they weren’t. He was missing half of his 15th chromosome and that only meant one thing. That meant that my son was suffering from a rare incurable genetic disorder. I felt the bottom drop out, my heart lay on the ground broken into a million pieces. My world was forever changed. I immediately started the intense research about his syndrome. Everything that I read was the stuff that nightmares are made of. What nobody tells you is that what you read on the internet is not the life your child will have. If only they could tell you that as time goes on it does get better. There is no cure, and life will never be easy, but it will be filled with joy and laughter and plenty of love to go around.
What is Prader-Willi Syndrome? It is a rare genetic disorder that occurs with every 1 in 12,000 births globally every year. It presents in both boys and girls equally. What does it mean for my son and the thousands like him? PWS effects almost every system of the body, PWS individuals suffer from short stature, small hands and feet, abnormal sleep patterns, the inability to regulate body temperature, obesity, developmental delays, and behavioral problems. PWS individuals also suffer from a host of unique and unusual medical conditions. For most of the families and those who know PWS, there is one trait of the syndrome that is the most challenging. Our loved ones have the inability to have normal hunger and satiety cues. Some people giggle when you say this and say, “Oh I must have that I am always hungry and eat too much.” That brings such pain in my heart that they could have such ignorance. My son is hungry ALL DAY, EVERY DAY OF HIS LIFE. There is nothing that can be done to make him feel better. My child could eat a 12 course meal and still think he is starving. Other children describe the feeling of hunger as piranhas eating your stomach from the inside out. One of the dangers of PWS is the individual being in an unsafe food environment. If left in an unsafe enviornment they could literally eat themselves to death. My child’s life depends on me. I have to keep him safe all day, that includes monitoring his calories and keeping food locked up. To make it even more challenging PWS is also a metabolic disorder, so not only is my child starving but he can only eat low calorie food in small portions. It is the danger of food that prohibits our loved ones from living a fully independent life. Yet another blow to all the dreams you had for your child; of going to college, getting married and having a family of their own.
Thankfully we are in an age of research, technology, and dedicated parents who can make a difference in the lives of those with PWS. We are the new face of PWS and we will not be defeated, we believe there is a cure for our children, and we believe it is reachable in their lifetime. So we spend our days not wallowing in self pity, defeat and grief. Instead we are motivated, dedicated, and determined to lead the way. My son’s best chance at that independent life that I dreamed for him is through research to find a cure. Research costs money, and to get money you need to create awareness. This is how I spend my days. I want the world to know about this rare genetic disorder, the most common of all genetic disorders. I want the world to know that my child is not a statistic he is a person. His name is Blaise Major Owings and he is the greatest gift on earth. He is funny and loving. He is dedicated and determined. He is charming and handsome. But most of all he is a true inspiration to all who meet him. He has been through more in his 4 young years on earth than most will endure in an entire lifetime. Yet he wakes up every day with a smile on his face. He smiles everyday even through the pain and frustration that he must feel. I will never give up on him, I will never stop fighting, I will see that a cure is found for him. I owe him that much.
Please help me spread awareness for Prader-Willi Syndrome. Please believe in our children.
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Rachel Alyse Pastiloff