NBIA Disorders Association

Today Miss Sophia receives the spotlight! Just a little about Sophia... "This is Sophia, our wonderfully unique and beautifully imperfect 14 year-old daughter. She loves going on bike rides and riding horses as part of her therapeutic care plan. She enjoys books and dancing with mom and dad when there aren't too many spectators around. She has an amazing sense of humor and even when we think she's not listening, she never seems to miss a punch line. She has a contagious laugh... and loves to give hugs and kisses." Sophia rode her adaptive bike for the #milliondollarbikeride and her parents have raised over $2800 in her honor! Please continue to support Sophia and the Sanchez family so we can receive the full match from U Penn for BPAN research! https://socialfundraising.apps.upenn.edu/socialF//fast.do

Spotlighting the Extraordinary Everett today! "Everett was born 2010 as a 6 pound 11 ounce baby boy. We never felt a love like this before. We were excited to begin this life of the first time parents. Already travelling uncharted land with the nuances of a brand new baby, we were blind sided when realizing Everett was making the same progress and hitting milestones his peers were. After several tests and an abnormal MRI, Everett was diagnoses "undiagnosed with developmental ...disability". As the rest of our friends' children were growing, so was Everett, just very differently than the typical parent anticipates. We continued to navigate the life of a disability with therapies, PCAs, nurses, specialists, surgeries, and that was all before his 1st year of life. Shortly after turning one, Everett began having seizures. This only added to our eagerness to find a diagnosis with a name for what Everett has. We hoped that in knowing what he has we would have a way to treat Everett. Our answer came in 2013, just a few months before Everett turned 3. He was diagnosed with Beta-propeller Protein-Associated Neurodegeneration (BPAN). In 2010, when Everett was born his disordered did not have a name and did not exists in the medical community. While researching other NBIA disorders the scientists of NBIA DA found BPAN. At the time Everett was 1 of 20 diagnosed. That number has now grown to hundreds and continues to grow. There is only a handful of males as fetal survival of a male with BPAN is low with this x-link disease. Without funding there is no research and without research BPAN would never have been discovered as a disorder. Everett continues to fight the odds and perseveres in life despite BPAN. We will continue to fight for answers to what BPAN is for the future of Everett, no matter what future that is." Everett's mother Samantha Geurts participated in the #MDMR and is still raising funds to help us reach our goal and meet our match from U Penn! Please support Everett and the NBIA DA over at https://socialfundraising.apps.upenn.edu/socialF//fast.do"

Spotlighting Quinn today on our page! Quinn is a beautiful and happy girl from the DC area, and is one just about 400 people WORLDWIDE who have BPAN. There is currently no cure for BPAN and no treatment to delay the disease progression. Quinn spends hours each week with a wonderful team of therapists and teachers who are helping her develop her strength, mobility and ability to communicate. She is on a ketogenic diet to try to get the seizures under control and her doctors ...are still trying to find the right medicines to help. But, she still has several seizures a day. Yet, she is a happy and energetic girl, who loves to laugh, sing, dance and do therapeutic horseback riding. Quinn's parents both participated in the #MDBR ride on June 12th, and are still raising money to help us meet our goal and receive the full match from U Penn! Please help this family by donating and/or sharing. https://socialfundraising.apps.upenn.edu/socialF//fast.do

Spotlighting on a beautiful BPAN girl's Million Dollar Bike Ride page today and asking you to stop by, take a look, and help this family raise funds to meet the full match from U Penn for their annual #MDBR rare disease fundraiser! This is Georgia Smith, located in Shelby North Carolina. She is three years old, which big gorgeous eyes and full of endless joy. Her heroic and very determined mom Tiffany rode for the MDBR on June 12th, and is still raising money for the cause. T...hey have raised over $3500 so far! Please help them and give them a share and/or a donation! More about Georgia: Georgia is a happy three-year-old girl, with beautiful blue eyes. She cannot walk or crawl. She cannot talk or feed herself. She is limited in the things she can do, but the amount of joy she brings to all who know her is not limited at all! She loves music and playing with chunky puzzle pieces. She is learning to walk with less assistance, and her parents are hopeful she will eventually walk by herself one day. She has an older sister, Ellie, who loves her to pieces. Ellie loves to tickle Georgia and hear her laugh. They have a sweet bond. Georgia is an inspiration to many who know her, as she endures many challenges daily. She is learning sign language and uses the sign for "happy" frequently. She is our happy girl and we are so blessed to have her in our lives! https://socialfundraising.apps.upenn.edu/socialF//fast.do

We are $5000 away from our goal!!!!!! Please continue to donate, share and if you have a page you made for the #milliondollarbikeride please promote it!! See below for our list of pages created to help raise funds for BPAN research and will help us receive the match from U Penn. Team NBIA Disorders... https://givingpages.upenn.edu/CureNBIA Georgia http://givingpages.upenn.edu/ridingforGeorgia Quinn http://givingpages.upenn.edu/themightyquinn Dahlia http://givingpages.upenn.edu/Dahlia Samantha Geurts https://socialfundraising.apps.upenn.edu/socialF//fast.do Jennifer Sanchez http://givingpages.upenn.edu/sophiasstandagainstbpan Jenny Mickeliunas https://socialfundraising.apps.upenn.edu/socialF//fast.do Jennifer Greene https://socialfundraising.apps.upenn.edu/socialF//fast.do Kristi Florio https://socialfundraising.apps.upenn.edu/socialF//fast.do

Don’t forget to keep sharing and donate if you can! We are halfway to our goal!

A thank you to all our donors.

Hi Friends! NBIA Disorders Association has opened up a Father's Day shop! Please considering buy See's Candys, NBIA DA funky branded socks, a chocolate orange candle, or a digital gift card for a dozen donuts for your dad, husband, any loved one for Father's Day!... All proceeds benefit the NBIA DA, which enables us to then fund research for treatment and a cure for NBIA. Sales close 6/12! Please browse, and share! See's Shop: https://www.yumraising.com/.../nbiada_nbia.../candy... NBIA DA Father's Day Shop: https://www.nbiadashop.com/

We are over a third of the way to our goal of $30,000 raised to receive the full match from U Penn for the #MillionDollarBikeRide for BPAN research! Please consider registering to be a cyclist and raising funds to help us. You can walk, run, or ride virtually! No need to do it on the exact day of June 12th, either. ... If you don't feel like registering to be a cyclist, please consider helping us to fundraise so we can receive the full match! We've been able to hit our goal and receive the match each year for the past FOUR years. Please don't let our BPANNERS down! All proceeds go to NBIA DA, specifically for BPAN research! $60,000 allows us to honor an entire grant, which brings us closer to a goal for treatment and a cure! Sign up to be cyclist here: https://www.milliondollarbikeride.org/registration To help raise funds, promote and share a fellow BPAN family's page, or our general team NBIA page here: https://givingpages.upenn.edu/CureNBIA Fellow BPAN family pages (add yours in comments and I will update!): Georgia http://givingpages.upenn.edu/ridingforGeorgia Quinn http://givingpages.upenn.edu/themightyquinn Dahlia http://givingpages.upenn.edu/Dahlia We encourage you to make your own page here: https://static1.squarespace.com//How+to+create+your+fundra All funds are due by 6/30, and the Bike Ride is 6/12!

Buy some See’s Candy for dad! Proceeds benefit NBIA Disorders Association

Attention Dad lovers! Our Father's Day Gift Guide is open today! Buy See's Candy, NBIA DA funky socks, a candle, or send a dozen donuts to the Dad or special loved one in your life to celebrate Father's Day!!... All proceeds benefit the NBIA Disorders Association and help us accelerate our quest for treatment and a cure!! https://www.nbiadashop.com/

BPAN Families! Please consider making a page on the MDBR site so you can encourage others to donate in your child's honor. The MDBR is virtual this year, you can pledge to walk, run or bike. We are a little behind on our goal of hitting $30,000, and we must do so in order to receive a full match from U Penn! We've been able to accomplish this for the past 4 years, helping accelerate our research and fight for a cure for BPAN!... See example pages here of other BPAN families. If you need help creating and promoting your page, please message us! Georgia http://givingpages.upenn.edu/ridingforGeorgia Quinn http://givingpages.upenn.edu/themightyquinn Dahlia http://givingpages.upenn.edu/Dahlia

As part of our Rare Disease Day month long celebration, we are sharing our RARE ZEBRA SIGHTINGS with you!!! Read on for another rare sighting: Scientific Name: Bhavin Mehta... Common Name: Bhavin Belongs to the: PKAN herd Last spotted: Mumbai, India Notable Features: Bhavin is an honest, handsome man zebra with a cheerful smile. He lives his life to the fullest no matter what! Favorite foods to graze on: This zebra is a complete foodie, and has a sweet tooth! Often seen: At the movie theater Favorite watering hole: He loves to be at home! Favorite migration point: Taipei, Taiwan. He’s lived there for almost two decades and feels like home even today. If you come across this zebra in the wild, don’t do this: Mess with the way things are arranged. But definitely do this: Fist bump Submitted by his zebra spouse, Nancy Want to show your support for Bhavin and the NBIA DA this #RareDiseaseDay2021? Donate directly on this post! If you would like to submit your rare zebra to be featured, please head to https://forms.gle/grBijLV9b4GUHYpH7 #RareDiseaseDay2021 #ShowYourStripes #shareyourrare #TEAMNBIA #nbiadisorders

Great news! We’ve extended the shopping deadline to this Monday to receive your gear in time for Rare Disease Day! Order by Monday and receive your order by 2/27 to wear for the big day! Proceeds go to NBIA DA for families, research, and the fight for a cure!! https://shopnbia.4gendigital.com/login

The NBIA DA is hosting a Show Your Stripes Costume Contest as part of our celebrating Rare Disease Day! Please dress up as your most original, creative, silliest, or best (whatever that means to you) zebra, or show your stripes in any unique fashion you wish, via costume. Get creative! ... NOTE: in order to be a contestant, you must PURCHASE official entry here - $19.99. Message with questions. Grand Prize Winner will get $1000 NBIA DA funds allocated to benefit the NBIA disorder subtype of their choice, along with $75 cash directly to them! Update: In addition to overall grand prize, there will be three other chances to win, determined from three categories! *Best family or group costume *Most creative costume *Cutest costume Costume contest will take place live on Zoom with judges, on February 27th. Participants who want to enter the contest and have a chance to win, please purchase an official entry at this event page to receive further instructions as well as an entry number. NOTE: We need at least 8 entries to hold this contest! Please join and encourage others! The contest will be streaming live and free for viewers to cheer on and support our zebras! Good luck!!

The NBIA Disorders Association is proud to officially share their Rare Disease Day Video. Thank you to all who support, encourage, and guide us. With you, we pave the path to a bigger, brighter world with an awareness of rare diseases and their impact on lives so well known and cared for, that one specific day out of the year isn't needed anymore just to try to make ourselves known. It's need will be to prompt stores to make room on their shelves for our greeting cards, and for the cities to reserve the streets for our parades.

Many of our NBIA guys and dolls have epilepsy. Another ailment they live with and fight through every day, proving to us over and over again that their bottomless well of strength is really, well, bottomless. International Epilepsy Day seeks to raise awareness and educate the general public on the true facts about epilepsy and the urgent need for improved treatment, better care, and greater investment in research. If you have epilepsy, talk about it. If you know someone who does, ask about it. #breakthesilence

A peek at our top selling items as we wrap up the first week of our online shop being open! Thanks for all your orders! #nbiada #teamNBIA #raredisease #shopforacause #holidayshopping Online Boutique link here >>>>>>> https://bit.ly/35QgPpd

Have you checked out our Holiday Gift Boutique yet? Come look! https://bit.ly/35QgPpd

Our political leaders will know our priorities only if we tell them, again and again, and if those priorities show up in the polls Today we have the opportunity to vote for our beliefs, our lives, and the future of our loved ones. Take that opportunity and #vote

'Tis the Season and we have some amazing news to share!!! We are excited to announce our 2020 NBIA Disorders Association Holiday Gift Boutique, open now thr...ough December 1st. We invite you to shop, share this post, and feel good about spending money on some great items for a wonderful cause! Proceeds go directly to NBIA DA. Shop at https://bit.ly/35QgPpd Special thanks to KB Paper Designs Philecia La'Bounty and Three Rivers Wreath & Plant Co for their talents, efforts, and collaboration. #NBIADA #teamNBIA #raredisease #holidayshopping #shopsmall #shopforacause

We have been honored with one of the first Top-Rated Awards of 2020 from GreatNonprofits! We appreciate all of your contributions! https://greatnonprofits.org/org/nbia-disorders-association

Study Sparks New Approach to BPAN Understanding and Treatment - Article from latest NBIA DA Newsletter #NBIADA #teamNBIA #nbiadisorders #nbiadisorder #BPAN #beatBPAN https://nbiadisorders.org/news-even/406-bpan-research-zhang

Demystifying Research Grants: Deciding Where Your Money Goes - An article from the latest NBIA DA Newsletter #NBIADA #teamNBIA #nbiadisorders #nbiadisorder #rarediseases https://www.nbiadisorders.org/research-grants-webinar

Church supports member with MPAN - from NBIA DA Newsletter #NBIADA #teamNBIA #nbiadisorders #nbiadisorder #MPAN #beatMPAN https://nbiadisorders.org/images/NBIA-Church-Donation.pdf

Article from latest NBIA DA Newsletter - Hoffnungsbaum e.V funds MPAN project at Helmholtz Zentrum Center in Munich #NBIADA #teamNBIA #nbiadisorders #nbiadisorder #MPAN #beatMPAN https://www.nbiadisorders.org/news-events/410-mpan-project

Article from the latest NBIA DA Newsletter - BPAN research provides insights into how iron accumulates in brain #NBIADA #nbiadisorders #nbiadisorder #teamNBIA #BPAN #beatBPAN https://nbiadisorders.org/news-events/407-bpan-research-seo

Some promising news about Angelmans Syndrome #raredisease https://www.healtheuropa.eu/is-crispr-gene-therapy-for-r//

New adaptive park in Laredo, Texas #specialneeds #nbiada #TEAMNBIA #NBIADisorders #raredisease https://www.kgns.tv//park-provides-special-needs-children/