Roman James - Age 3.5 years
Roman is our first born child and the first grandchild on both sides of our family so he is pretty much the apple of everyone's eye. This blonde haired, blue-eyed gentle soul stole our hearts from the moment we laid eyes on him.
Roman was a bright, lively, attentive, and observant baby who, at 4-5 months old, was already imitating the sounds of words and had a keen interest in books and songs. He always had his million-dollar smile plastered on his face and the sound of silly words would always make him laugh. From early on, he seemed to have an affinity for language and a curiosity for the people and world around him.
But, as the months went on, all that began to change. We began noticing a decline in his language and some of his physical milestones were no longer being met, in fact, he started losing skills. Soon after that, during a routine visit to the pediatrician, an enlarged liver was detected. He was sent immediately to the hospital for labs and, within a month, he was diagnosed with ASMD. That diagnosis changed his life, and ours, forever.
Roman has been receiving an enzyme replacement therapy for the past year that has worked beautifully at reversing damage done to his organs from the neck down, but it unfortunately does not cross the blood brain barrier to stop the neurological progression of this diesease. We are hoping and praying that we can get him treatment in time to help slow down and eventually even stop the progression of his neurological disease. There is a very promising experimental medication that we are currently in the process of accessing which gives us great hope. Roman turned three on September 21st, 2018. Many children like Roman that suffer with neurological disease from ASMD don't live to see their third birthdays. It is our hope that with your help, Roman will live to see many, many more.