I wanted to take a moment to share a bit about my background and why SETBP1 Society was formed. I am Haley Oyler, the president of SETBP1 Society and the mom of a curious, silly, beautiful 7 year old named Cole. Cole is the oldest of my 2 children, both boys. My pregnancy with him was fairly easy and not very noteworthy. He did not move a whole lot in my belly and my husband and I commented about what a laid-back baby he was. After birth, he followed the same trend and was a mostly calm baby with low tone who wasn’t too vocal and didn’t move around as much as other babies in my mom’s group or other babies I saw at the parks or the local children’s museum. We felt lucky to have a baby who was more content than other babies.

As time went by, we would receive numerous comments about how our child was not following the typical development pattern. He wasn’t crawling, walking or talking at the expected time frames and wouldn’t practice newly discovered skills with the same interest. Over time, his challenges grew. Certain things that came natural to his peers and friends, did not come natural for him, like speech and language development, hopping, running, writing, and riding a tricycle or a bike. We noticed certain things like loud noises, movement where his feet did not touch the ground, sock seams, pants with back pockets, getting his teeth brushed, having his hair combed, and other sensory-related things bothered him. On the other hand, he was extremely curious, very social, and had a strong interest with wheels, water and being outdoors. His list of official and unofficial diagnoses grew – apraxia of speech, dyspraxia or developmental motor coordination disorder, sensory processing disorder, attention deficit disorder (ADD/ADHD), behavior challenges, fine motor challenges, developmental delay, food allergies, and gastrointestinal issues. Finally, after 2 rounds of genetic testing spanning 2 ½ years, we found the answer to these seemingly disparate symptoms. The Whole Exome Sequencing (WES) genetic test provided us with answers. Within a few days of Cole’s 5th birthday, we found out from his pediatric geneticist that he has a genetic, neurodevelopmental disorder which was listed as SETBP1-related disorder. We would learn that neither my husband, our youngest son, or myself have this genetic difference. We would also learn that there were less than 20 identified cases worldwide when my son was diagnosed in January 2016. No other child with the exact same point mutation was identified.

Throughout 2016, I spent countless nights, after the kids went to sleep, sitting at my computer for hours researching questions like “What does SETBP1 loss-of-function mean?” “What does the SETBP1 protein do?” “Does my child have a risk of leukemia since some SETBP1 differences are related to leukemia?” “What is MRD29?” “Who is studying SETBP1?” “What publications are available about SETBP1 loss-of-function or SETBP1 haploinsufficiency?” “Is the disorder progressive?” “What symptoms will he have?” “Will he have any organ problems related to his condition?” “What is his life expectancy?” “Are there any adults with this same condition?” “What researchers are studying SETBP1 loss-of-function mutations?” And the list of questions goes on and on. We enrolled Cole in the Chromosome 18 Research and Registry, the TIGER Study at the University of Washington, a study looking at MRIs to learn about attention difficulties at the University of Texas, and an apraxia of speech study. We joined the Facebook SETBP1 groupe d’entraide group, which included one family with a child with a SETBP1 loss-of-function mutation. I worried night after night about my son’s future. I cried off and on numerous times throughout the year feeling overwhelmed and helpless due to the lack of information about the disorder. The disorder did not even have a name at this time and was referred to as SETBP1 haploinsufficiency, SETBP1 loss-of-function, or MRD 29 in the few available publications. We connected with a few more families with SETBP1 loss-of-function mutations through the Facebook site, from our blog and from the numerous other rare disease and disorder sites I joined trying to find as many families out there with the same genetic condition. By the end of the year, more families joined the SETBP1 disorder Facebook group but not too much had changed in regards to the lack of publications or researchers working on SETBP1 loss-of-function mutations or specialists studying the disorder.

I realized that if I wanted things to change and I wanted my son and the children of those families that joined the SETBP1 Facebook group to be a priority, then we needed to change the landscape for our children. We needed to create the change and be the hope the other families and I were searching for. We needed to form a nonprofit whose sole focus is SETBP1 disorder with a mission to connect families with children with this disorder, spread awareness of this disorder, and raise funds to promote SETBP1 disorder research to find an effective treatment. With the help of my husband, Eric, and friends Trina Geye and Alice McConnell, and other leaders in the RARE community, SETBP1 Society was born and became an official 501(c)3 nonprofit by early summer 2017. Our son’s condition also took on the official name of SETBP1 disorder. And thus our story began…

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