Jacobsen Syndrome Awareness

When Brady was born everything pointed to a healthy baby boy. Six weeks later we were having stomach surgery on his pyloric valve. We were in the hospital for four days. Brady recovered and continued to meet both developmental and physical milestones. On his first birthday we had two doctor appointments. At the first appointment with his pediatrician we found out that he had a heart murmur. He referred us to Texas Children's cardiology. When we left the pediatricians office we went to the pediatric ophthalmologist. Brady's eyes had become misaligned and we wanted to get it checked. While we were discussing the day with our ophthalmologist he told us that he would like to send us to Texas Children's also. This time we were to see the genetics department. We left the doctor's office in shock. The day had started off so normal and had turned so quickly.

We went to genetics when Brady was 14 months old. The doctors did a routine check-up and took blood. They seemed to think we would be cleared, and said that they were pretty sure that his bloodwork would come back with normal chromosomal counts. Several weeks later we received the call that Brady had Jacobsen Syndrome. We immediately searched out others that would be able to provide us any answers. We joined the 11Q research group which helps to raise money for Dr. Paul Grossfield and his Jacobsen's research. We prayed and continue to pray for peace and direction with this diagnosis.

Since finding this out we have been to countless doctors for screenings and medical concerns. We have been diagnosed with ADD, OCD, Common Variable Immune Deficiency, and Asthma. We joke that we have been to almost every floor of Texas Children's. The parents in the research group not only provide support to other parents, but they also are a sounding board for us to try to figure our kiddos out. Our children are so rare that most of the doctors we visit google our syndrome before entering the rooms to see us.

All children with Jacobsen Syndrome are rare and unique. Brady and others like him have so much love in their hearts that our family wants to shine a light on them and raise awareness of the fight that they fight and the strength that they have. These kids are amazing examples of love, hope, and what having faith looks like. Brady makes me want to be a better person every day.

Because Jacobsen's is so rare there is no official day of awareness. We decided that we would make November the 17th be Jacobsen's Awareness Day. Why November the 17th? Jacobsen Syndrome is also known as 11Q deletion. We are using the eleventh month to represent the 11, and the 17th for the letter Q since it is the 17th letter in the alphabet. The money we hope to raise will go to the research group that supports Jacobsen Syndrome and the families that are affected.