2018 NUCDF Family Conference Highlights

2018 NUCDF Annual Family Conference

July 6-8, 2018
Hilton San Diego Resort & Spa
San Diego, CA 92019

Connecting Families with Knowledge and Hope

In the last 20 years, over than 3500 families
have attended an NUCDF Conference!

We had an empowering, life-changing weekend on beautiful Mission Bay in San Diego! Over 150 UCD patients, families, researchers and medical professionals met to improve outcomes and accelerate research.

Conference participants learned about advances in research, new treatments, and cutting-edge management insights to help improve the lives of children and adults with UCD. Our UCD families left the conference empowered with tips and tricks that make a difference in dealing with UCD.

Our UCD children and siblings had a great time at Kids Kamp, our conference childcare. Kids Kamp gives our UCD kids a chance to meet and play (and make life-long friends!) while parents attend the conference sessions.

Agenda

Friday, July 6, our conference began with workshops, followed by our early evening reception for all participants. UCD families loved meeting each other (some for the first time and others reuniting after last year's conference) and networking with the medical experts they have always heard so much about.

Saturday and Sunday, July 7 & 8: Conference activities included the general session with the latest research and treatment updates from preeminent UCD scientific and medical experts, workshops, breakout sessions, focus groups for new products, and "Ask the Expert" panel discussions. Participants received updates about the research studies being conducted by our National Institutes of Health Rare Diseases Clinical Research Network Urea Cycle Disorders Consortium (UCDC). In its 14th year, the UCD Research Consortium is an international network of research and clinical "centers of excellence" that conducts pioneering research to improve the knowledge of UCDs, clinical trials for new treatments, and ongoing natural history studies of UCD patients. NUCDF is a partner in the UCDC in developing clinical trials for new treatments and research studies to advance the knowledge of UCD.

UCD patients and families also had the opportunity to sign up for focus groups and to participate in research studies right at the conference, including neurocognitive testing, and helped to validate a new non-invasive neuroimaging technique called fNIRS (near-infrared spectroscopy. fNIRS makes it possible to record brain activity while a child sits comfortably in a chair. A special headband containing detectors and a light source uses near infra-red light (about the same as sunlight) to detect changes in blood volume and oxygen levels in the brain while performing simple tasks like reading, counting, or looking at pictures.  In the past, these types of studies have required an MRI, which is difficult for children to undergo. This new non-invasive technology will help advance studies into the effects of UCD on the brain.

CONFERENCE PROGRAM HIGHLIGHTS

Topics included:

• Optimizing management and drug treatment options.
• Dr. Nicholas Ah Mew and Maya Gerstein MPH reported updates on the new research comparing liver transplant to standard management and how families make decisions about these options.
• Dr. Emily Perito, transplant specialist presented on Liver Transplant for UCD.
• Report by Dr. Uta Lichter on research revealing how UCD affects learning, mood and behavior and how glutamine and ammonia may serve as biomarkers for outcome.
• Dr. Lindsay Burrage reported on new studies to predict the risk of liver disease in UCD.
• Dr. Sandesh Nagamani provided updates on research studies for argininosuccinic lyase deficiency (ASL)
• Dr. Andrea Gropman updated participants on pioneering neuroimaging research and what it reveals about the short and long-term effects of UCD on brain function.
• Improving long-term health and outcomes - new treatment and management insights.
• Presentations by UCD patients: "Life strategies for Living with UCD," and "Living with Liver Transplant."
• Patient-Powered Research updates from Janice Bartos, NUCDF Research Study Coordinator.
• Focus Group: Family Perspectives on Clinical Practice Resources
• Dr. Brendan Lee reported on Pricing of rare disease drugs: Balancing Costs and Innovation. UCD treatments are the most expensive drugs in the world - what drives these exorbitant prices and lessons learned for future development.
• Managing the UCD diet - participants learned how our diets can sabotage metabolic stability, mood & behavior, brain function and well-being.
• Focus group feedback for new MyUCDDiet® mobile app for managing the UCD diet.
• Dr. Brendan Lee reported on new frontiers - mRNA gene correction, the microbiome, metabolomics and the gut-brain connection.
• NUCDF CureUCD Center for Preclinical Therapeutic Discovery - accelerating promising breakthroughs.

STAY INFORMED with credible information!

If you aren't able to attend the conference, you'll want to stay up to date on the latest developments in our UCD world. If you are not already a member of NUCDF, please accept this personal invitation to join us, stay informed and be part of our international UCD community! Membership is free, but the benefits are priceless. Together, we WILL find a way to end the devastating effects of UCD!

Our Dream is a Cure, and we can't rest until we find it...

Comments from our UCD community:

"NUCDF really is the driving force behind UCD research and support and education of families and physicians alike. NUCDF has directly improved the lives of families by providing them with credible guidance and access to the most current information." ~ Brendan Lee, MD PhD, Chair, Div. Molecular and Human Genetics, Baylor College of Medicine

"NUCDF provides services and support to patients and families with UCD that no other organization, no matter how well funded can. NUCDF is an essential component in the care of patients and has come to be relied upon by both affected families and the professionals caring for them." ~ Stephen Cederbaum, MD, Emeritus, UCLA Dept. of Medical Genetics

"It's always amazing. We go to the conference every year we can, and we always leave with more information that helps us care for our son. Because of the research we learn about at the conference, we have hope for his future." ~BR

"We left exhausted but hopeful and excited to put what we've learned to use right away. We plan to stay in touch with the other families we met and see them again at next year's conference. Thanks to NUCDF for being there for all of us!" ~ED

"NUCDF gave us more information than we ever got from our doctor. We were confused by all the crazy stuff we read on the internet and Facebook and suspected the sources were pretty scary. NUCDF helped us sort out the facts so we could actually help our daughter. ~NS

From Facebook:
I'm so happy we finally met in person! We learned a great deal, and the conference helps combat the feelings of isolation and fear that come with a UCD. Everyone we met was so welcoming, compassionate and genuine.

The NUCDF conference we attended in Cleveland was just awesome. These doctors are the best in the world when it comes to urea cycle disorders and I feel so thankful to have heard what they have to say. We have a lot to think about after this trip in terms of how we want our son's future to be. It was so nice meeting families and especially others moms who understand what it's like to have a child with this disorder and the stress that it brings. They were so comforting when I was an emotional wreck. I feel like they have been my friends for a long time already :-) a big thank you for putting this together and taking the time to talk to me about my son, and for being such an advocate for our kids!!!!! We are beyond blessed to have this help.