The following are group notes gathered from the World Cafe discussions at the 2019 KAND Family & Scientific Engagement Conference. Visit the conference page to learn more and download the “Research & Clinical Care” session handout with discussion questions here.
2019 KAND Family & Scientific
Engagement Conference
World Café: Research & Clinical Care
Group Notes
August 17, 2019
What can researchers and clinicians do to help families improve the daily care and wellbeing of their loved ones now?
Care Guidelines
- Clinical practice guidelines needed
- Treatment database: X recommended for Y symptom
- More support/information for medically complex KAND
- Guidance for the following challenges:
- Urinary
- Cognition/Understanding
- Speech
- Physical Ability/Mobility
- Seizures
- Analyze seizure medication usage/results by KAND patients to identify any effective medications that could be recommended for other patients to avoid “randomly” prescribing medication
Local Clinicians
- We need open lines of communication between patients and clinicians
- Care team should really be a team effort (primary doctors, specialists, therapists, etc. should all be in communication with one another)
- Doctors should educate themselves about KIF1A instead of relying on parents to explain. Use KIF1A.ORG for information and resources (e.g. KAND Conference presentations)
- Doctors and genetic counselors delivering diagnosis should
recommend KIF1A.ORG as a resource to newly diagnosed families
- Please don’t send us complicated/worst case scenario scientific literature without explaining the context to us
How can families help researchers keep a patient-centered approach to their work?
- Connect with Chung Lab (if you have not already) to enroll in the patient registry and natural history study
- Communicate with researchers about what is important to families
- Make it personal: help researchers get to know us
- Help share our appreciation with researchers – families take turns sending thank you cards
- Emphasize: we want researchers to be collaborative and transparent
- Create more opportunities (in-person and/or virtual) for researchers/clinicians and families to connect
What questions or concerns do families have about drug/therapy development for KIF1A?
- How long will it take to get to treatment? To clinical trials?
- How do we find a treatment to target specifics, since the children vary so much?
- How do we group or prioritize who gets treatment first?
Comments
- KIF1A.ORG should connect with other researchers and invite them on our quest to cure KAND, help them collaborate with each other
- Invite more researchers/clinicians to future conferences
- Establish a prize for
researchers: money to best paper/dissertation
- Stipulations: once a year, research institution only wins once
- Create a provider list of physicians, therapists and specialists who treat KIF1A patients
- Better explanation of what “KIF1A” is and what “KAND” is
Questions
- How does the location of the KIF1A mutation relate to clinical presentation?
- Are there any recommended dietary supplements? Vitamins? Minerals?
- Is there anything we can do now to slow down the disease progression?
- Should we bring our kids to be evaluated in the clinic by Dr. Chung? Should we stay with our medical team? Or both?
- Is it possible to have virtual appointments with doctors/therapists familiar with KIF1A?