Your February Newsletter is here!

February 2022

Volume 33, Issue 2

It’s Rare Disease Day! How’re you sharing your story?

Why is February 28th Rare Disease Day?

Rare Disease Day is the globally-coordinated movement on rare diseases, working towards equity in social opportunity, healthcare, and access to diagnosis and therapies for people living with a rare disease.

Since its creation in 2008, Rare Disease Day has played a critical part in building an international rare disease community that is multi-disease, global, and diverse– but united in purpose.

Rare Disease Day is observed every year on 28 February (or 29 in leap years)—the rarest day of the year.

Rare Disease Day was set up and is coordinated by EURORDIS and 65+ national alliance patient organization partners. Rare Disease Day provides an energy and focal point that enables rare diseases advocacy work to progress on the local, national and international levels.

Rare Disease Week on Capitol Hill brings together rare disease community members from across the country to be educated on federal legislative issues, meet other advocates, and share their unique stories with legislators. No prior experience is necessary. Registration for this event and all RDLA events are free for all rare disease advocates.

“ It gives me great pleasure to be able to advocate for my son and the CLN2 Community! This is even more rewarding when combined with my desire to get a law degree.”

– Cristina Rosa; CLN2 Mom, 2022

Learn more about BDSRA advocacy efforts!

We want you to help us build for our future!

Thank you to everyone who took the time to respond to our survey about BDSRA. We are excited to continue in this community feedback process, and our next step will be to host Virtual Focus Groups led by TGG Brand Marketing + Design. Whether or not you completed the survey, and you are interested in participating in the Virtual Focus Group on Saturday, March 19, at noon EST, please complete the form HERE. We look forward to hearing from you!

Are you interested in participating in conference planning?

Are you interested in helping us plan for our 2022 Annual Family Conference in Cleveland this July? Please reach out to Morgan DeBoth at mdeboth@bdsra.org.

We are looking for 2-3 participants to help us plan. W are anxious to hear feedback as we look forward to planning our 35th year.

Do You Follow BDSRA on Social Media?

Want to see more BDSRA content? Don’t miss out on upcoming events, information, campaigns and community posts! Follow @BDSRA on Facebook, Instagram, LinkedIn and Twitter to stay in-the-know on all things happening in our Batten Community!

Click below to follow all of our accounts:

Upcoming Events for Batten Families

We are excited to have a live events calendar at BDSRA.org. Please visit our website to see all our new updates!

Ask-An-Expert: Rare & Ready | March 29th, 2022 | 5p EST | Virtual

Some states are developing detrimental strategies to slow or limit patients’ access to newly approved rare disease therapies. Learn about the programmatic obstacles put into place by Medicaid fee-for-service (FFS) and Medicaid managed care organizations (MCOs) and what families can do to clear these hurdles.

Rare Disease Week Debrief Party | March 22nd, 2022 | 7p EST | Virtual

Join is for the Newly Diagnosed Meet and Greet March 22nd at 7p EST. A place for new families to meet one another, learn more about BDSRA and our mission, and discover opportunities for support throughout their child’s diagnosis.

Rare Disease Week Debrief Party | March 2nd, 2022 | 7p EST | Virtual

After a week of advocating for our Batten Community, join BDSRA for a live debrief with staff and others who participated during this week of advocacy. We cannot wait to hear all your stories and victories!

Stay Golden: St. Patrick’s Day Party | March 10, 2022 | 5:30p EST | Virtual

Please register by March 1st to receive an activity box! Registration is now open for BDSRA’s Stay Golden Saint Patrick’s Day Party taking place Thursday, March 10th at 5:30p EST! Join the BDSRA team for a jolly good party with crafts, games, and a festive book! Register by March 1st. to receive a St .Patrick’s Party Box! (Boxes for U.S Families only). You can register to receive a box or just attend the virtual party. We would be lucky to see you there! Register or share this event with your community by clicking the link below:

Updates from our Rare Disease Partners

Evaluating the Impact of Music Therapy for Children with Dementia

To Read the Full Article Click Here

Join CPN IN THE ROOM for When the Child is the Twin

March 23rd 8pm ET

Register here

When a twin has a serious medical issue, the family faces a distinctive set of concerns and worries. Encouraging and supporting the unique relationship between the children while balancing their respective physical and emotional needs; contemplating an unknown future for that relationship; grappling with existential questions about fate and fairness: these are just a few of the challenges of parenting twins when one is medically complex.Listen, learn and ask questions as our panel of three mothers of twins explore coping strategies in this unique circumstance.

Resource Corner: Rare & Ready

Research Updates from Industry Partners

BDSRA has some exciting news! We are launching our research locator for families. This tool aims to inform our community about new updates and possible studies available to participate in. Our greatest hope is that this is a simple locator that takes the burden off families who would otherwise be searching through clinical trials.gov. To view our locator, visit: https://bdsrafoundation.org/research/clinical-studies/

No update available at this time.

We are very excited to share that the clinical trial for the investigational AAV (adeno-associated virus) gene therapy, NGN-101, is now enrolling participants at the clinical trial site, University of Rochester Medical Center in Rochester, NY, USA. This investigational gene therapy clinical trial is titled: A Phase 1/2 Intracerebroventricular and Intravitreal Administration of NGN-101 for Treatment of Neuronal Ceroid Lipofuscinosis (NCL) Subtype 5 (CLN5) Disease.

More details are in the linked document, and the link on clinicaltrials.gov is: NCT05228145

No update available at this time.

Please read the community letter here.

Update for BBDF-101 for CLN3!

Phase I/II enrollment open.

More information at:

https://www.clinicaltrials.gov/ct2/show/NCT05174039?cond=CLN3&draw=2&rank=5

In Loving Memory

Remember with us those we have lost to Batten disease. It’s in their honor and memory that we work every day to build a brighter future for families.

Douglas Fowler

Sept. 13, 1993 – Feb. 8, 2022

Christine Ratz

Sept. 1, 1992 – Feb. 8, 2022

To have your loved one’s name placed in the Illuminator,

please reach out to Morgan at mdeboth@bdsra.org.

BDSRA Community Facebook Fundraiser Spotlight

We are so excited each day to log in and see the list of your names growing. Thank you for sharing and supporting our mission on social media! You can visit each fundraiser by clicking on the button above. Thank you!

CLICK TO VIEW ALL FACEBOOK FUNDRAISERS

Thank You BDSRA Community of Donors!

Thank you to the donors this past month who gave so generously to honor and in memory of loved ones and our community as a whole. We want to acknowledge you for your contributions.

They allow us to keep serving families and advancing the science of a meaningful treatment. Your dollars and support have helped create the leading patient organization in the Batten disease community, and we are dedicated to continue that legacy of children and families.

To view the list of recent donations, please click the button:

DONATIONS

USPS Delays:

Due to delays in mail service, your donation may still be on its way. Please reach out to BDSRA if you have concerns about delayed donation recognition.