Aevary's Personal Story
Amazing Aevary and the inspiration behind the TBRS Community.
We are very excited to announce the guest of honor for our 2nd annual A Rare Affair! An amazing young girl, who through the perseverance of her family was among the first to be diagnosed with her condition, and is the inspiration behind the TBRS Community. As told by her mother Jill Montgomery Kiernan, here is her story:
Aevary is a kind and thoughtful 14 year old girl, with a great sense of humor. She lives in the small town of Stanfordville, in Dutchess County NY (Pine Plains School District) with her parents and older brother, Aiden. Since infancy, Aevary has struggled with significant health and developmental issues and has been seen by every specialist under the sun. Despite their best efforts and exhaustive tests, the doctors and developmental specialists were unable to identify an accurate diagnosis. When Aevary was just two years old, one doctor told her family that Aevary may have a disease that would end her life within two years. The worry was unbearable. Thankfully, the doctor was wrong. Over the ensuing decade, Aevary and her family persevered, getting her the services she needed while never abandoning the search for a diagnosis.
In March of 2014, Aevary participated in The Childhood Overgrowth Study at The Institute for Cancer Research in the UK. The study has been running for over a decade and aims to identify novel genetic causes of childhood overgrowth and clarify associated clinical features. Doctors Tatton-Brown and Rahamn led the team that first identified the genetic abnormalities that cause the syndrome that bears their name. Aevary and the 12 other participants were the first people in the world to be diagnosed with Tatton Brown Rahman Syndrome (TBRS) involvement in the study, helped make it possible to discover this new genetic syndrome. At the time, there were only 12 other people in the world, identified with TBRS, and very little was known.
Genetic syndromes often come with a list of possible medical issues that diagnosed individuals need to monitor closely and treat. In an effort to learn more about what this diagnosis meant for Aevary’s health, her family turned to the internet and social media. They started a website and Facebook Page, hoping to connect with other families and to start to piece information together. One by one, families from around the world connected and found information and support,creating a true community.
Fast forward to 2017, Aevary’s family founded The Tatton Brown Rahman Syndrome Community, a nonprofit organization that supports families diagnosed with TBRS. The families from The TBRS Community have been vital in helping the doctors piece together information about what diseases and developmental diagnoses may be linked to TBRS. Many of the individuals diagnosed with TBRS have suffered from overgrowth, hydrocephalus, brain abnormalities, heart malformations, cancer, orthopedic issues, scoliosis, hypotonia, autism, epilepsy, apraxia, sensory processing disorder, immune deficiency, psychiatric disorders, vision impairments, hearing loss, and many other issues. The doctors and researchers are doing exhaustive work to determine what people with TBRS need to be monitored and treated for. This information will undoubtedly improve and save lives.
The TBRS Community has collaborated with The Child Growth Foundation to support diagnosed families by having TBRS included in the Child Growth Foundation’s annual conference in The UK. Currently The TBRS Community is planning its first independent conference which will be held this year in New York’s Hudson Valley. Diagnosed families from all around the world will come together to share their stories and case histories and will have the chance to meet Dr Tatton Brown. For most of these families, this will be the first time they meet another person with TBRS, a truly life altering experience.
The TBRS Community also works locally to partner with organizations like The Stanford Grange, The Pine Plains Recreation Department, and teenage volunteers from our local school district to promote the inclusion of children with disabilities in our local community. Programs to date have included an after-school activity group and mixed ability basketball. The TBRS Community has also offered two small scholarships to graduating seniors from The Pine Plains School District who have volunteered with people with disabilities, or plan to pursue a related field after high school.
The TBRS Community also plans to fund research that will help to uncover the mysteries of not only TBRS, but related disorders, like autism, heart disease, cancer, etc. They are also in the process of creating educational materials for families, physicians, and educators, so that more people can be diagnosed sooner and receive proper medical and educational interventions. The researchers feel that TBRS may not be as rare as they first suspected. The more people we can reach with this information, the more people we can welcome into our community, providing imperative support and information.
The TBRS Community is a small but mighty group that appreciates the support of the local community. When your child is diagnosed with a rare disease, it can feel very scary, overwhelming and isolating. The TBRS Community provides diagnosed families with an immediate sense of support and access to important and accurate information.