These testimonials, which give accounts of circumstances such as having a child with a rare, previously undiagnosed genetic illness, down syndrome or a personal history of a cancer predisposition syndrome, provide insight into the unique concerns of these individuals and their families.
- When a Disease is Rare – The Story of a Father and his Child with an Unknown Genetic Disorder
- Mr. Reston shares the difficult journey that his family took, after his healthy 18 month daughter fell ill and became intellectually and physically disabled. He discusses the plethora of tests that his daughter received leading up to her diagnosis of a rare genetic disorder and how researchers can help families understand the world of genomics and its importance to future treatment and therapy
- Speaker: James Reston Jr
- Talk starts 19 minutes and 45 seconds into the recording
- Mr. Reston shares the difficult journey that his family took, after his healthy 18 month daughter fell ill and became intellectually and physically disabled. He discusses the plethora of tests that his daughter received leading up to her diagnosis of a rare genetic disorder and how researchers can help families understand the world of genomics and its importance to future treatment and therapy
- Life With my Sweet Son Beckett Who Happens to Have an Extra Chromosome
- We will hear a mother’s view of Down syndrome, including Tamara’s personal journey with her son Beckett. Tamara will highlight some of the sensitivities to be aware of and will provide helpful pointers and tips for communicating with parents.
- Speaker: Tamara Taggart
- We will hear a mother’s view of Down syndrome, including Tamara’s personal journey with her son Beckett. Tamara will highlight some of the sensitivities to be aware of and will provide helpful pointers and tips for communicating with parents.
- Using Humor and Storytelling to Help Rewrite Our Genetic Code
- Ms. Katan’s presentation, which includes her own story of being diagnosed with bilateral breast cancer and a cancer predisposition syndrome, aims to help physicians relate to the patients during their cancer journey.
- Speaker: Tania Katan
- Ms. Katan’s presentation, which includes her own story of being diagnosed with bilateral breast cancer and a cancer predisposition syndrome, aims to help physicians relate to the patients during their cancer journey.
- Health Care and Health Policy Challenges in Genetic Laboratory Services – Parental Perspectives in Diagnosis of Intellectual Disability
- Ms. Makela discusses the impact that microarray genomic hybridization results had on parents’ perspective and the experiences related to receiving a diagnosis for their child’s intellectual disability.
- Speaker: Nancy Makela
- Ms. Makela discusses the impact that microarray genomic hybridization results had on parents’ perspective and the experiences related to receiving a diagnosis for their child’s intellectual disability.
- Walking with Scientists: A Father, His Genetically Disabled Son, and Their Adventures with the Scientific Research Community. (not available)
- Ian Brown shared the story of his son with a rare genetic syndrome. He discussed his experience with the research world, such as the gap between his expectations as a parent and what researchers seemed to promise.
- Speaker: Ian Brown
- Ian Brown shared the story of his son with a rare genetic syndrome. He discussed his experience with the research world, such as the gap between his expectations as a parent and what researchers seemed to promise.