Get Involved
YOU have the POWER to Make a Difference!
By working together we can make a difference.
Get involved and be a part of the hope for the future of those affected by NUS1 disorders.
Below we have a few ways to get more involved as a caretaker, friend, family or community member for your loved one.
Join our
NUS1 Foundation
PARENT MINGLES
Parents and families of NUS1 and DHDDS loved ones are invited to a bi-monthly Parent Mingle Zoom meet-ups to connect with families all over the world, sharing resources and updates about our rare disease journeys.
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SAVE THE DATE | ZOOM registration below
Tuesday January 14
12-1 PST | 3-4 pm EST ​​​​
Support
Comes in
all
Forms
“Too often we underestimate the power of a touch, a smile, a kind word, a listening ear, an honest compliment, or the smallest act of caring, all of which have the potential to turn a life around.”
Leo Buscaglia
Professor in the Department
of Special Education
Have a special event coming up next year and want to host a BONFIRE Team Shirt Fundraiser? NUS1 patients get to work with the design team to plan a one-of-a- kind edition for their friends & family to build their own NUS1 TEAM! All proceeds go to the NUS1 Foundation for advancing care and outreach.
Having trouble with managing your child's epilepsy and medications? Our Parent NUS1 Facebook group is one the of the best resources for sharing medications and options to address with your care team. Also joining the bi-monthly Parent Mingles will connect you to families who are also navigating numerous atypical seizure patterns.
Having trouble with symptoms that no doctors seems to understand and advocate for? We got you! Show up to our Parent Mingle meet-ups to talk and connect about what other families are doing to make it easier for our families, educators and medical teams to prioritize just what your child needs.
Going to see your Neurologist next? Ask about a referral to get a Fibroblast. Fibroblasts are obtained from a person through a simple skin biopsy. Fibroblasts can be grown in the laboratory for use in genetic and other scientific studies of that individual. As NUS1 research advances, your genetic information can be shared with labs around the world for cutting edge research.
Did you know that NUS1 and DHDDS are two genetic variants that share ataxia, seizures, tremors and learning difficulties? DHDDS is based in the UK and USA and their Cure DHDDS and NUS1 Community Facebook page is another invaluable community network.
Are you involved in the D-Biotin Study? Dr. Christian Thiel in Hiedleberg Germany has research focusing on Congenital-Disorders-of-Glycosylation-CDG.14 in using D-Biotin -10mg daily for decreasing tremors. CONTACT Christian.Thiel@med.uni-heidelberg.de
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Rare Disease Registry
Register now at Cords Rare Disease Registry to build cases for speciality research. As whole exome sequencing and research expand, our growing network will be needed for all advancements. That means, you or your loved one are critical to advancing patient research and access.
New Patient
You are not alone. Check out this Family Guide to help guide you. NUS1 families are also the best resource! Sign up for the mailing list and find ways to get involved on our Facebook Groups to connect with others. Our communities are larger than you imagine. Follow N-Lorem for building knowledge of our ultra-rare community!
Greenwood Genetic Center
Check out what the Greenwood Genetic Center is up to! They are a headquarter for NUS1 research and Zebrafish testing in their aquatic labs.
Other ways to gather support
There is more than one way to raise money. NUS1 individuals are trailblazers and you can be one too!
Special Occasions
Celebrate any Special Occasion by asking your friends, family and extended community to contribute to a cause that is near and dear to you. By sharing our DONATE page, you are contributing to advancements in NUS1 research and care.
Share your story
The hardest part of any rare disease is the feeling of being alone in unchartered territory. By sharing your story with others you are taking part in building a community of compassionate supporters. Join our Bonfire Fundraiser to build YOUR Families team of supporters, for you and your NUS1 loved one
Specialty Communities
Did you know that special
occasions exists for us!
Its always an occasion to celebrate.
MAY 16th = CDG Awareness Day
March 26th = Epilepsy Awareness Day
February 28th = Rare Disease day
November = Epilepsy Awareness month
April = Autism Awareness month
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Be Apart of our NUS1 Family Map
Canada, The United States, The UK, New Zealand, Poland, Australia, and more
The ever growing NUS1 community reaches around the globe!
“We do not need magic to transform our world. We carry all of the power we need inside ourselves already.” J.K. Rowling
Father
21 year old Daughter
Canada
"It is always great to learn more about people with a NUS1 mutation. I don't know about others, but I am very eager for more information. It is interesting to see the various abilities that the NUS1 patients exhibit."