Comanche blessed Philadelphia, PA with support from one of its best residents during the University of Pennsylvania Orphan Disease Center’s Million Dollar Bike Ride in June 2019. Nancy Isham attended the 6th annual bike ride designed for the sole purpose to raise funds for rare disease research. Over 35 rare disease teams participated in this event. Nancy Isham’s grandson, Cole Oyler, has a rare genetic disorder called SETBP1 disorder. Her grandson is 1 of 70 individuals diagnosed worldwide. This ultra rare genetic neurodevelopmental disorder causes symptoms including autism/autistic traits, intellectual disability, developmental delay, adhd, apraxia of speech/speech delay, fine and gross motor delay, sensory processing disorder, and for some, seizures. The disorder is diagnosed by advanced genetic testing including Whole Exome Sequencing (WES) or Whole Genome Sequencing (WGS). Her grandson’s genetic mutation is so small that even 10 years ago would not have been identified by genetic testing.
Nancy Isham was part of the SETBP1 Strong Team which included her son, Chance Isham, daughter, Haley (Isham) Oyler, and other family and friends whose lives are impacted by SETBP1 disorder. The University of Pennsylvania Orphan Disease Center matched up to $30,000 for research funding for each rare disease represented, including SETBP1 disorder. With the SETBP1 Strong Team raising over $35,000, the combined contribution to SETBP1 disorder research exceeds $65,000!
Nancy’s daughter, Haley, with support from her husband, Eric, founded SETBP1 Society about a year after their son’s diagnosis. There was not a support group, a dedicated research paper or even a name for the diagnosis when their son was diagnosed. They felt alone and struggled deeply after receiving the diagnosis and did not want others to have to suffer the way they did. SETBP1 Society is an organization dedicated to supporting families impacted by SETBP1 disorder, raising awareness and providing education of the disorder, and promoting research for SETBP1 disorder.
With the formation of the foundation and the collective efforts of the SETBP1 community, they now have a Facebook community of almost 50 families worldwide with children with SETBP1 disorder, a registry of over 20 families, educational tools including the first SETBP1 disorder guide, phenotype studies in development, a mouse model and induced pluripotent stem cell development underway to learn more about the function of the SETBP1 gene/protein, and a website dedicated to the disorder, www.setbp1.org.
While in Philly, Nancy made sure to enjoy the local sites including the steps of the famous scene from the movie “Rocky”, standing within arms length of the Liberty Bell, and partaking of the local cuisine. Nancy was not a fan of the philly cheesesteak, but for those that know Nancy, maybe it just needed a little salsa in order to meet the demands of her sophisticated palate.
We are proud to have a community of citizens willing to do what they need to do to make a difference, including traveling to Philadelphia, PA to watch their grandkids while their kids ride to change the face of the rare disorder community. We are proud to have Nancy Isham as a native Comanche resident.
If you want to learn more about SETBP1 disorder, Nancy’s daughter’s story or SETBP1 Society, visit www.setbp1.org.
Be the Hope! Be the Change!