Family Spearheads Rare Disease Event at ACH
Most people have never heard of Neurofibromatosis (NF). And, it's not surprising considering only one in 10,000 people are diagnosed with this rare disease around the world.
For the Jones family, NF became their way of life since one of their sons, Michael, lived with this diagnosis until he passed away in 2015 at the age of 21.
The Jones's approached the R.B. Lowry Genetics Clinic at ACH with a strong desire to do something to elevate the awareness of NF. The "start small, think big" idea began with creating a parent engagement event: bringing families with NF and their healthcare providers together to learn and dialogue.
The Neurofibromatosis (NF) Education & Information Sharing Event, was held on May 12, 2017, from 11 am - 5 pm at ACH. Over 100 people attended this event, including approximately 42 family members.
I've never met someone with NF, was the common theme throughout the day.
What makes this event unique is that it was family-driven and the Jones family collaborated with AHS, the R.B. Lowry Genetics Clinic and the University of Calgary Cumming School of Medicine to bring this event to fruition.
The event was planned so guests could learn more about NF, network with other families and have an open discussion about next steps. Both Laurie and Gary Jones welcomed guests and spoke throughout the day. Guest speakers included Jan Friedman, MD, PhD, Medical Geneticist from the University of British Columbia. His topic was, “What we have learned from recent NF research”. Scott Warkentin, NF parent and representative of the Alberta Tumour Foundation spoke about the Tumour Foundation and sat on the panel for open discussions in the afternoon. Dr. Naddley Desire, Pediatric Neuropsychology Postdoctoral Fellow, ACH, University of Calgary, spoke of the “Cognitive, emotional and psychological outcomes of children with NF: Bridging the gap between clinical research, healthcare and intervention.” Courtney Willoughby, a Registered Nurse, shared her journey as a person living with Neurofibromatosis.
Prior to the event, NF families were given an opportunity to participate in a needs assessment survey. The findings were shared with attendees by Dr. Renee Perrier to facilitate a discussion about next steps in supporting healthcare services for individuals and families. Families expressed the importance of connection as evidenced in the survey results that identified that 47% of respondents think that connecting with other NF families is very important. And that 41% of respondents are not currently connected with another NF family.
Future plans include the finalization of a brochure about NF, a resource tool for families and certainly an avenue for NF families to connect with each other.
For more information about Neurofibromatosis, click here.