Topics will be Amber's story, overlapping symptoms, distinguishing symptoms that are not common in Rett, understanding current genetic services that may be available for those who are atypical or who do not have a genetically confirmed diagnosis, and the case for medical necessity for further testing even in adulthood. The presentation may be helpful to health care providers who are also seeing patients who are not diagnosed with Rett or atypical Rett such as autism, CP, etc. who may also be interested in learning more about genetic services and options.
Angela and her husband Darin are parents to Amber who is 24 years old and who was diagnosed with atypical Rett Syndrome up until January 2020 when updated genetic testing revealed something new, an HNRNPH2 gene mutation. They are also parents to a 21-year-old daughter who was adopted at age three from Romania. She is diagnosed with multiple disabilities including Reactive Attachment Disorder as well as Spina Bifida. They also have a 23-year old son who is in his second year of law school at the University of Washington. Angela is also the executive director at Idaho's Parent Training and Information Center and Family to Family Health Information Center, Idaho Parents Unlimited (IPUL), where she has been working with families who have children with disabilities and special health care needs since 2009. Angela is a former Chair of the Idaho State Independent Living Council, the current Chair of the Idaho Infant Toddler Coordinating Council, and she also spearheaded the effort to create Idaho’s first universally accessible playground – the Adventure Island Playground – located in Meridian’s Settler’s Park. Angela holds a Bachelor of Science in Human Services (BSHS) with a Concentration in Family and Child Services. She is passionate about inclusion and helping families navigate complex systems of health and education for their children with disabilities. After an exceptional journey to understand Amber's diagnosis and its implications, she remains committed to ensuring families have access to genetics education and services.