His diagnosis with Galactosialidosis
Hello everyone my name is Ashley Pauls. The mother of an amazing 3 year old named Ivan.
My little “Ivan The Great” was diagnosed January 2011 with Galactosialidosis and am told it is EXTREMELY rare. I will never forget the day I found out his diagnosis and on top of that, that there is no cure or treatment for it. I felt like my heart was ripped right out from my chest. The whole world and how I perceived it changed instantly. I viewed the world and people in a whole new way.
This past year has been tough for us, as I am a single mom and trying my best for both Ivan and Melody. Melody is Ivan’s big sister and does not have the disease. She is a great big sister to him. She understands all that is going on with him but I did not explain to her the end result in this disease.
Since Ivan was a baby I knew in my heart that something was not quite right with him. I continued to take him to Doctors and insisted something still wasn’t right. I couldn’t put my finger on it but I just knew there was more to it than just little things here and there. I had a feeling that there was something bigger going on to cause all these different things. But never had I imagined it would be something like this nor had I ever thought maybe just maybe it’s something that will slowly end his life. Ivan is showing some symptoms but in time his symptoms will worsen. I just don’t know how soon it will all happen. His internal organs will become enlarged; he will have back surgery in the near future because of the deformities and all his mental abilities he gains as he grows he will also loose as he grows. The scariest part is I am unsure about his future. I feel like we’re going through this blind folded because the doctors don’t know much about the disease because Ivan is maybe one of 3 with this disease and probably the only one in the U.S. and I am aching to speak with anyone else going through this.
Ivan and I attended our first conference with ISMRD in South Carolina and it was unbelievable! Very informational and with all the other families there, we all could understand each other’s pain, frustration and concerns. It felt more like a family and Ivan and I felt very comfortable there. Its more than an organizational support group, IT’S A FAMILY!! And I am glad to have gotten the chance to meet so many great, sincere Doctors and so many beautiful children and their families.
What I have realized in the end through all of this, Doctors, worrying, crying, praying and striving I refuse to let this disease take a hold of our lives. It will not make our lives miserable or sad. It will not stop him or us from anything. And we will live each day filled with love, laughter and beautiful memories in our hearts. I cherish the most precious moments like when Ivan and his sister laugh so hard at each other they can’t stop laughing or when he tries something difficult for the first time and triumphs it after a couple tries. He is a joy to our hearts and lives. I would not change a thing about my little man; I love him just the way he was born. He has made my life that much brighter and made me realize that there is nothing that important to live your life mad over, “Ivan The Great” has touched hearts and will continue to do so and make a change or difference in this world little or big.
An idea, or vision always starts as a seed…………