Jimmy is 7 years old and lives in Plainfield with his parents and his older brother Joey. Jimmy attends Central Elementary in Plainfield and his brother Joey attends Riverview Elementary.
At 13 months of age he was diagnosed with “18q Deletion Syndrome”, which means he is missing a piece of chromosome 18 in every cell of his body. When Jimmy was diagnosed we were told by his geneticist that they weren’t really sure what life had in store for Jim. We were given a study from 1963 of 40 children that had this syndrome. This study said Jimmy had a 95% chance of being mentally retarded, he could have heart defects, hearing loss, vision issues, and a whole list of very grim possibilities. The Doctors said they couldn’t tell us much more about this condition, as it was so rare. Only 1 in 40,000 children worldwide are diagnosed with a Chromosome 18 abnormality. They told us “There is nothing you can do to fix this, just hope for the best.”
We are happy to say that although Jimmy’s progress is slow, it is steady, and we continue to see improvement every day. Although at age 6 we still can not walk or talk, with the help of our therapists, and a lot of hard work at home, we do believe that Jimmy will walk someday. We have seen so much improvement in him over the last couple of years, and we are very hopeful that the progress will continue.
Jimmy would not be where he is today without having had the benefit of the research being done by the Chromosome 18 Registry & Research Society. For example, they determined that the children with this syndrome have a growth hormone deficiency. Their research has shown improvements in growth, muscle tone and intelligence in 18q- children treated with growth hormone replacement therapy. The growth hormone treated group had IQ increases of up to forty-seven points, with an average increase of twenty-three points! We are working now with his doctors to see if Jimmy will qualify for growth hormone therapy.
This organization has been a valuable source of information and support that has given us so much hope after the geneticist’s original grim prognosis. We are raising money to fund the research that will help individuals with chromosome 18 abnormalities overcome the challenges they face, so they might lead happy, healthy and productive lives. We strive to learn which genes our children are missing, in an effort to better understand what can be done to limit the effects of these missing genes. Although the chromosome 18 syndromes are rare, the research being conducted could give insight into other chromosomal abnormalities such as Down Syndrome, and conditions like deafness and depression. Over 95% of all funding goes directly to their programs, with less than 5% going towards overhead.
Jimmy has taught us so much in his short life including compassion, patience and unconditional love. He has taught us how precious life is and about not taking things for granted. He has taught us about hope and faith. We face so many challenges every day, but he has taught us to never give up. He has taught us to appreciate even the smallest milestone. Our son is a true blessing and a rare gift!
Thank you so much for your support
Joe & Chris Bajner