KIF1A.ORG exists to welcome patients and families into a supportive community with resources and information. If you or a loved one was recently diagnosed with a KIF1A genetic mutation, here are a few immediate things you need to know.
1) You are not alone.
There are over 400 families around the world with reported disease-causing variants in the KIF1A gene. All of them are members of our community. Please reach out by completing the form at the bottom of this page, and we will get right back with you to answer questions, provide information, connect you with families and offer support. Our family support staff includes Dr. Shannon Dennis, a KIF1A mom and practicing clinician, and Charlotte Klinepeter, a KIF1A mom with a background in public service. We are here to answer your questions and talk through your new diagnosis over the phone, teleconference, email, or messenger.
We also have a private family support group on Facebook with hundreds of families just like yours. Send a request to join our supportive community.
2) We are discovering treatment and you are a core member of the team.
Our foundation supports extensive research at the Chung Laboratory at Columbia University Medical Center in New York City. Wendy Chung, MD, PhD, and her team work closely with KIF1A.ORG to understand the needs of every family affected by mutations in the KIF1A gene. This team manages multiple laboratory and clinical studies to understand the mechanism of KIF1A dysfunction at the cellular level and how KAND patients develop and experience symptoms. With a “Care Until Cure” approach, the Chung Lab is spearheading efforts to develop better care guidelines and discover treatments and cures for KAND.
You can help us improve care guidelines and discover treatments for KAND by participating in research. There are multiple ways you can contribute to research from your own home. Please visit our Participate in Research page to learn more.
3) We’re learning more about this disorder every day.
KAND is a neurodegenerative disorder with a wide range of symptoms and severity. No two patients are affected the same way. Still, there is much we have learned from one another.
Many families do not have access to genetic testing confirming a mutation in KIF1A. If you have been told you need genetic testing and your insurance will not cover the test, contact us.
To connect with our community, please fill out the form below. A KIF1A.ORG staff member or volunteer will respond as soon as possible to connect you with information and support.