"In 2016, we welcomed Alex to our family. After a normal pregnancy and c-section delivery, we packed our bags to head home when an astute pediatrician heard a heart murmur on a last well-visit checkup. She told us that they needed to take Alex to the NICU for a quick check. A few hours later, several doctors walked into the room to describe the extensive congenital issues with our son. Multiple heart problems, a liver tumor, malformed kidneys… It became a race to save Alex’s life. Only weeks later did we receive the results of a Microarray analysis test which revealed that Alex has a small duplication on his 18th chromosome, also known as Partial Trisomy 18. This was identified as the likely cause for Alex’s medical issues. The doctors did not know what this meant for Alex’s life, and had almost no data to support any conclusive treatment or long-term outlook. Alex was charting his own course.
Over the course of the next 16 months, with multiple open-heart surgeries, liver resection, g-tube for feeding, and a host of other problems, Alex fought for his life with the help of an amazing team of doctors, surgeons, nurses, therapists, and family and community support. During this time we discovered the Chromosome 18 Registry and Research Society and had the opportunity to meet with Dr. Cody and her small team of researchers. She spent time with us letting us know everything she was able to discover from her own research. Dr. Cody and her team probably know more about Chromosome 18 than almost anyone in the world, yet for this particular condition, there isn’t a lot of research or data to be able to determine what long-term life may look like for children like Alex. The Chromosome 18 Registry and Research Society is dedicated to funding the research that would answer our questions and those of other families who have children with small duplications of Chromosome 18. The research will identify the genes that cause the specific problems in children with small duplications or full Trisomy 18. Identifying the key genes is the first step toward devising specific treatments that could improve or save the lives of babies with Trisomy 18." - Sandra and Beau
The prevalence of full Trisomy 18 is 1 in 3762 births. In 2018, there were roughly 3.79 million live births in the United States. That means roughly 1007 babies are born with Trisomy 18 each year and the very sad case is most die within days or weeks. But Trisomy 18 is not destiny, it is a genetic condition.
In order to begin to understand and correct major health problems caused by Trisomy 18, we need to determine which genes are the few on chromosome 18 responsible for the condition. One way to approach this is to identify people with small chromosome 18 duplications; partial Trisomy 18. Then to define their exact chromosome 18 change and evaluate their medical issues. As we correlate specific issues with specific regions of chromosome duplication, we will hone in on the causative genes. We have done this with the deletion syndromes of chromosome 18 and are now turning to the duplication (trisomy) syndromes. To date, the Chromosome 18 Research Center has enrolled ten individuals with duplications of portions of chromosome 18 and have collected their medical records. We hope to enroll many more as well. However, in order to determine exactly which genes their chromosomes have duplicated and contribute to trisomy, we need to perform a high resolution analysis of their chromosomes. We need additional funding in order to perform this molecular analysis. This is where you come in.
Funding of this research does not come from the government but organizations like the Chromosome 18 Registry & Research Society. We directly fund the Chromosome 18 Clinical Research Center which has been serving families for over 30 years and is the only research center in the world dedicated to chromosome 18 conditions. Raising $15,000 would allow us to complete 12 high resolution molecular analyses that would help bring us closer to the root of the problem. If we can learn which genes on chromosome 18 are lethal then we can begin to make progress toward treatment.
Please consider donating today and passing this message on to your relatives and friends. One small donation can make a big difference!