The story of Amara

Meet my daughter Amara from Trinidad & Tobago. She is 7 years old and is the only registered or documented person with 11q Terminal Deletion Disorder (Jacobsen Syndrome) in our country of approximately 1.2million. Her twin brother Asaiah does not have the disorder. She stayed 60 days in the NICU where doctors treated her symptoms as they were perplexed regarding the root cause. She was baptized in the NICU after two severe episodes of pulmonary hemorrhage and fatally low platelet count. I was advised to prepare for the worst outcome. She survived the 24hrs placed on her life at that time and was eventually discharged in my care and told there is nothing else that could be done. At the time there were no geneticists on staff at the local hospital and specialized genetic testing was not (and still to this day) not available.
Through family network we journeyed to Geisinger Autism and Developmental Medicine Institute in Lewisburg Pennsylvania where she was diagnosed with Jacobsen Syndrome specifically a terminal deletion of at least 10.5Mb extending from the cytogenetic band 11q24.1 to 11q25. She walked for her 3rd birthday following years of occupational and aqua therapy. She is developmentally delayed and non-verbal. Though there are many challenges both medical and developmental she is progressing. On her recent visit to Geisinger after being unable to travel for almost 2 years due to closed borders and delayed access to covid19 vaccine, she charmed everyone along the way, from the caribbean airlines team, the nurses and staff at the hospital, the shuttle bus drivers and everyone along the way.