Documentaries: Sound and Fury and Sound and Fury: 6 years later
This film chronicled the friction surrounding cochlear implants, Deaf culture and identity within a multi-generational family of deaf and hearing members. The first movie gave a raw and poignant look at this tumultuous time for the family, followed by an update on the family 6 years later.
Each year we invite several guests who have a genetic condition themselves or have a family member with a genetic diagnosis. We have a rare opportunity to hear first hand, personal accounts about living with a genetic condition which goes beyond what we can learn from a clinical definition of a given diagnosis. Here is a synopsis of the stories we heard this year.
- A genetic condition can be life-limiting in some cases. We were fortunate enough to hear the poignant story of Charlie Lord’s family and his daughter Cameron who was diagnosed with Tay-Sachs disease and died just after her 2nd Eric and Linda Platt joined us to tell us about his sister Diana Platt Frenkel, a genetic counselor and member of our first graduating class (’94). Diana had Neurofibromatosis Type 1 and died in 1999. Cari Cornish shared her daughter Jessie’s life with us. Jessie died late 2015 from complications of Sanfilippo syndrome. We also heard from Kemi T. and the loss of her infant son to a severe heart defect just weeks after his post-natal diagnosis of Down syndrome.
- We met with three cancer previvors and they shared their medical decision-making process (and recovery from) prophylactic risk-reduction surgery. Beth and Mike are siblings who both carry a familial CDH1 gene mutation associated with Hereditary Diffuse Gastric Cancer. They were joined by Beth’s teenage son and Mike’s young adult daughter, both of whom have decided to undergo pre-symptomatic testing in the near future. Their children’s first-hand accounts of their family’s openness and support for each other put their family’s genetic inheritance in a very different light. Additionally Katie, a BRCA1 carrier and previvor provided us with insight on how she made difficult choices about her health and how she supports other high-risk women through tough parts of their journey.
- The journey from School (3-22 yrs) to Adult Services (23 yrs and on) for individuals with a disability is often complex and arduous. Lisa Jennings and her young adult daughter Monica, who has a 22q microdeletion, has faced many challenges of her own and provides support to other parents preparing to transition their child to adult services. Lisa provided a personal look and was joined by Kerry Mahoney from SUPPORTbrokers at the Arc of MA who gave us the broader overview of their mission to support individuals of all ages and disabilities. SUPPORTbrokers help with developing self-advocacy, help develop a transition plan, and help conduct a person-centered plan.
Ethical Case Discussions:
For the past 3 years we have incorporated discussion of actual cases presented by genetic counselors or advocates involved in the cases. This year we invited Jessica Shriver, a patient advocate and bioethicist serving the rare disease community. Her cases highlighted some the challenges rare disease patients can face with genomic information.