Seventh International NBIA Disorders Association Family Conference
April 4 – April 7, 2013 - San Antonio, Texas
Our Seventh International Family Conference in San Antonio was our largest yet, with 120 participants from the U.S., Canada, Australia, Norway, England, India and Japan. That number included 27 NBIA individuals, also a record number.
For the first time, we had clinic appointments for two days, on Wednesday and Thursday before the conference began. Twenty-four families had individual medical appointments with our doctors to get advice particular to their situation. Many families also took part in a blood draw for our International Patient Registry that is being funded by the European Union grant called Treat Iron-Related Childhood-Onset Neurodegeneration (TIRCON).
We are grateful to our conference sponsors who donated a record $20,200 to help us defray our conference costs. A special thanks to our Premier Sponsor, Retrophin, Inc.
Registration fees brought in $6,530 and our silent auction and raffle held at the conference raised $2,929, allowing us to pay all conference expenses without dipping into our general fund as we have in year’s past. We also received $2,840 in conference scholarship funds and were able to help eight families attend.
Also a first was starting on Thursday evening instead of Friday morning with a happy hour and Getting To Know You Session. Those ice-breakers gave nine new families and 25 who returned an opportunity to interact and socialize before starting our regular sessions on Friday. We also kept the children with the families during this session for the first time, so that everyone could meet the entire family together.
San Antonio has so many tourist attractions that many families made a holiday out of the trip. The early April date was spring break for many. Some families stayed extra days to spend more time exploring this big Texas city. And on Friday evening, we arranged for a bus to take families to The River Walk, the scenic waterway lined with restaurants and shops. It is close to the other premier attraction in San Antonio, the Alamo.
A highlight of the conference and a key reason we picked San Antonio was to visit Morgan’s Wonderland on Saturday afternoon. The weather was perfect and we practically had the park to ourselves to enjoy all of the rides and attractions designed to accommodate disabled guests.
We remembered lost friends and family members with a memorial tribute Friday afternoon. We released doves and families shared thoughts of their loved ones. The names were read, and participants blew bubbles up into the sky in their memory.
Of 31 evaluations we received, 28 said the conference exceeded their expectations. A very popular session was “Coping with psychological effects of disability” led by psychologist Don McGreary. As always, families said they relished the opportunities to socialize with one another, including the dessert reception Saturday evening. Many indicated socializing is the highlight of the conference for them and what makes attending in person so important.
We also got down to business.
Our keynote speaker Friday was Dr. Janine Cody who is a researcher and parent of a child with Chromosome 18 disorder. Cody is the founder and president of the Chromosome 18 Registry and Research Society as well as the director of the Chromosome 18 Clinical Research Center at the University of Texas Health Science Center in San Antonio. She shared her work as a researcher and leader of a lay advocacy group and gave tips on how our organization can move forward by sharing her group’s model.
Cody’s organization has raised $3.9 million for research grants, which now are targeted on “getting treatments for kids” and finding a cure, she said. There are some fascinating research questions, she added, “but I need to focus on what’s going to help our families.”
Sprinkled throughout the day on Friday and Saturday were talks by our researchers, who updated our families on their work.
Dr. Elliott Vichinsky from Oakland Children’s Hospital and Research Center, the lead investigator on the deferiprone clinical trial, said that trial has the potential to be very informative because previous trials on the iron chelator haven’t been done well. This one, for PKAN patients, is a randomized trial that includes a control group and has all of the research centers using the same equipment.
If it becomes clear that the deferiprone works, the drug will be released to all participants in the trial, he said.
Suzanne Jackowski, a scientist at St. Jude Children’s Research Hospital, said her work with Retrophin, Inc. on assessing a potential treatment for NBIA is showing promise.
Dr. Paul Kotzbauer, an assistant professor at the Washington University School of Medicine in St. Louis, said he is continuing his work with mice is an effort to find therapies for PLA2G6-associated neurodegeneration, PLAN, which includes INAD.
Dr. Susan Hayflick who also is working with mice at the Oregon Health & Science University, spoke about the importance of developing a registry of the NBIA disorders, charting the natural history of the disease and having a consortium of researchers and sites so that we become a “trial ready” community. She also shared information on a MRI study on PKAN individuals starting at OHSU. Dr. Penny Hogarth, also at OHSU, said their work on helping to develop best practices for treating PKAN patients is nearing completion, at least for now. The practices will evolve as new knowledge is gained, and she said, it is hoped that they will inform physicians treating other forms of NBIA.
Allison Gregory, a genetic counselor at OHSU, went over the latest gene news discussing how we now have nine genes under the NBIA umbrella, with more to come.
We ended the conference with our closing ceremony on Sunday morning with a video prepared by our conference photographer, Tom Ford. Ford’s clever Wizard of Oz themed video had all of us laughing. He followed up with a slideshow of conference photographs that brought tears to many at the conference.
Before we left for home, we talked about the possibility of having our next family conference in Europe, possibly in Italy as part of an international conference, so we can meet other members of our sister organizations and researchers from around the world. Let us know what you think of that idea and how likely you’d be to attend.