February 2021

February 2021

Message from the Executive Director

Dear NNPDF Friends and Family,

Rare Disease Day is approaching.  On February 28th, families from around the world join together as one voice. Throughout the month, Niemann-Pick families across the US sent photos in support of our “I Care About Rare” program and helped us amplify the Niemann-Pick voice.

Niemann-Pick is one of nearly 7,000 rare diseases. The path to diagnosis for a rare disease can be long, winding, and complicated with few specialists and supports. At the same time, the path to approval of new medications for rare diseases is complicated. We have less patients for clinical trials than a “typical” disease and traditional clinical trial designs may not fit the unique patient populations of rare diseases like Niemann-Pick.

NNPDF is advocating on behalf NPD families, to treat rare diseases differently from mainstream diseases with larger population. We are sharing our thoughts and concerns with the FDA in order to discuss challenges of clinical trials with small patient populations, to find solutions that may make approved treatments possible in the near future, and to increase the patient voice in decision making.    

To help support our positions, we now have a vast array of data from our “Challenges of Access” Survey conducted in 2020. Preliminary findings were presented in a poster at WORLD Symposium and will also be shared in a summary report shortly. Thank you again to all of the families who participated in this survey. Your responses are helping us to better understand the health insurance needs and challenges families face in accessing care and services. The data we gathered will provide the foundation needed to discuss these challenges with key opinion leaders, like legislators and regulatory officials, and to provide a platform for our fight to ensure coverage for treatment options.

Last summer our Family Support & Medical Conference featured a keynote address by Dr. Kathleen, Acting Director, Division of Rare Diseases and Medical Genetics (DRDMG), Office of New Drugs, US Food & Drug Administration. This summer, our 2021 Family Conference will again take place as a virtual event. Our Scientific Advisory Board recommend a best way to safely gather our Niemann-Pick families for our annual conference is to hold a virtual conference this year. Our Board of Directors and staff take this recommendation, and the health of the Niemann-Pick community, seriously and support this guidance.

Our program will still be held July 29th – August 1st – starting with Family Advisory Working Groups on the morning of July 29th, and our conference beginning on the evening of July 29th. We are fortunate to host the INPDA Global conference in conjunction with ours and are excited to be joined by our international friends and families. Given the success of last year’s virtual conference, we know this year will be another interactive and engaging weekend filled with clinical & research updates and discussions, our unique family break-out sessions, and plenty of time to connect on our virtual conference platform throughout the weekend.

Registration will be available shortly. Watch for the announcement and link soon! In the meantime, don’t forget to download the NNPDF app for connecting, updates, info, contests, and more!

Warm Wishes,

 

 

Joslyn Crowe, MSW, MA
NNPDF Executive Director

Rare Disease Day

Rare Disease Day is February 28th! Show your support on Rare Disease Day by raising awareness of what it means to be rare. Building awareness of rare diseases is so important because 1 in 20 people will live with a rare disease at some point in their life. Despite this, there is no cure for the majority of rare diseases and many go undiagnosed. Rare Disease Day improves knowledge amongst the general public of rare diseases while encouraging researchers and decision makers to address the needs of those living with rare diseases.

Anyone can get involved in Rare Disease Day awareness. Participants can find helpful resources, activities and events to get involved at rarediseaseday.org. This global event was founded by EURORDIS and is sponsored by the National Organization for Rare Diseases (NORD).

NNPDF Rare Disease Day Participation

Rare Disease Day Facebook Profile

To raise awareness for Niemann-Pick disease and Rare Disease Day the NNPDF has created a custom frame for your Facebook profile pictures. Also, please feel free to display and share the NNPDF Rare Disease Day Facebook banner to promote awareness.

To add the NNPDF Rare Disease Day frame to your Facebook profile picture:

  1. Go to your Facebook page and click on your profile picture.
  2. Click on “Add Frame”.
  3. Search for “NNPDF Rare Disease Day 2021” frame and click your selection.

I Care About Rare

Show us why YOU Care about Rare! During the month of February, join us in promoting awareness of Rare Disease and Niemann-Pick disease.

  1. Click here to print out the I Care about Rare sheet. Add WHY you Care About Rare, snap a photo, and share your on your social networks with the hashtag #NiemannPickRare – let’s flood our social pages with photos of why you Care about Rare and Niemann-Pick disease!
  2. Send your photos to nnpdf@nnpdf.org with RDD in the subject line to be included in our Rare Disease Day slideshow with your I Care About Rare photos!
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Membership Update

Dear Friends,

As NNPDF Board Chair, I am honored to write you on behalf of the National Niemann-Pick disease Foundation. I hope this finds you well during these most unusual times.

We are on the cusp of a tremendously exciting period and hope to see the first approved therapies to treat Niemann-Pick disease. In an effort to best serve you and keep you updated, NNPDF has recently upgraded our data management system to meet the growing needs of our organization. We ask ALL current and interested community members to confirm or update your membership information in this new system by March 15, 2021 to ensure we have accurate contact information for you and your family.

Membership is complimentary for Niemann-Pick families, friends, and community supporters. Your NNPDF membership enrollment will ensure continued notifications of upcoming opportunities to connect with families, participate in advocacy efforts, learn about research breakthroughs and fellowship funding, participate in a clinical trial, and honor a loved one.

Enrollment also includes NNPDF member-only benefits such as:

  • Emergency Hardship Program
  • Holiday Gift-Giving
  • Family Conference Scholarships
  • Navigating Together family support sessions

Confirm or update your membership information by March 15, 2021
for your chance to win $50 towards NNPDF Gear!

For enrollment assistance contact Laurie at
familyservices@nnpdf.org or call 603-413-8707

As a member, we’ll keep you updated along the way as information becomes available for clinical trials, treatments, and advocacy efforts by way of email and our enhanced social media presence.

NNPDF Staff and Board of Directors are available and eager to talk with you and help you in any way we can. We are here for you and want to hear what is important to you! Please reach out to Laurie Turner, Family Services Manager at lturner@nnpdf.org or 877-287-3672 for any questions or for assistance in updating your information.

Thank you for your support and I look forward to our continued journey together.

 

 

Justin Hopkin, MD
NNPF Board Chair

NNPDF Family Support Medical Conference Update

Dear Friends and Families,

NNPDF’s Scientific Advisory Board recommend a best way to safely gather our Niemann-Pick families for our annual conference is to hold a virtual conference this year. Our Board of Directors and staff take this recommendation, and the health of the Niemann-Pick community, seriously. We have decided that our Family Support and Medical Conference taking place this summer will be a virtual event.

Our program will still be held July 29th – August 1st – starting with Family Advisory Working Groups on the morning of July 29th, and our conference beginning on the evening of July 29th. We are fortunate to host the INPDA Global conference in conjunction with ours and are excited to be joined by our international friends and families. Given the success of last year’s virtual conference, we know this year will be another interactive and engaging weekend filled with clinical & research updates and discussions, our unique family break-out sessions, and plenty of time to connect on our virtual conference platform throughout the weekend.
 
Registration will be available shortly. Watch for the announcement and link soon! In the meantime, don’t forget to download the NNPDF app for connecting, updates, info, contests, and more! 
 
Save the Date for 2022: We still gather in Orlando, along with our INPDA friends and families in late July 2022.

NNPDF In Action

WORLDSymposium 2021

Data from NNPDF’s Challenges of Access survey was presented at this month’s WORLD Symposium as a poster (pictured below). The survey aimed to understand health insurance literacy and challenges accessing health services in Niemann-Pick disease through the eyes of patients and families and was the most comprehensive survey conducted of the Niemann-Pick community to date. Significant findings showed that Niemann-Pick disease families had a higher level of heath literacy than the general population however insurance literacy gaps included insufficient knowledge of health insurance terminology and difficulty calculating expenses based on insurance coverage. The results showed that NNPDF has a role to play in better helping families understand Medicaid waivers, plan deductibles and out-of-pocket maximums.

The survey also showed the most common life impacts from access challenges in the Niemann-Pick community were mental health and physical symptoms. Caregiver’s most frequent burden were caregiver burnout and concerns about advocating in the right way. Results shows that Niemann-Pick community members most feared delays in access or being unable to access medications, services, and providers.

The full results of the survey will be published in a final report which will be shared publicly. The results of this research will be used to shape NNPDF’s advocacy efforts to improve patient outcomes.

Navigating Together: Support for all phases of Niemann-Pick disease

NNPDF Family Services is pleased to share that the first Navigating Together small group session has begun. Navigating Together: Legacy Families started this week to offer support to our members that have lost a loved one. NNPDF recognizes our bereaved families are an integral part of our community and we hope to offer support with our Navigating Together sessions. 

Navigating Together series is a new direct services program to provide a confidential space for families to process the complexities related to the realities of loss on multiple levels and is led by a licensed professional trained in grief counseling.

Additional Navigating Together sessions will be held for ASMD and NPC Families and may include specific sessions for families during all phases of the NP journey such as – late Onset NPC, Legacy Families, Newly Diagnosed Families.

If you have any questions or would like more information about Navigating Together, please contact Laurie Turner, Family Services Manager at familyservices@nnpdf.org or 603-413-8707.

Thank You to all that generously supported the NNPDF with your financial gifts in 2020 through your donations, family fundraisers, and social media fundraisers. It is through the generosity of donors like you that we are able to provide vital unmet services to patients and families along their Niemann-Pick journey. Your support matters. We can’t do it without you! Your ongoing commitment to our organization is greatly appreciated.

Volunteers Needed

Thank you to those of you that have shown interest in volunteering for the NNPDF! Your time is invaluable to our NPD community. We are currently collecting resumes and letter of interest from those interested in volunteering skills and time to assist with focus groups, committee teams and even as a Board member. If you are interested in becoming a NNPDF volunteer, please let us know at jcrowe@nnpdf.org and we will follow up with you with the process for applying.

Please send all letters of interest by March 15th.

Coffee & Catching Up

JOIN US for Community Connections Coffee & Catching Up on Monday mornings at 11am EST! Connect with other Niemann-Pick community members who share your journey. Click here to register.

If you have any questions please contact Laurie Turner, Family Services Manager at familyservices@nnpdf.org or 603-413-8707.

ASMD Update

Sanofi Genzyme is excited to announce the launch of a new educational phone line for the Acid Sphingomyelinase Deficiency (ASMD) community. ASMD is historically known as Niemann-Pick disease type A, A/B, and B. This phone line is staffed by patient education liaisons (PEL) who are available to speak with callers about ASMD symptoms, diagnosis, and other disease-related topics.

You can speak with an ASMD PEL Monday – Friday, 8 am – 8 pm ET by calling 1-800-745-4447, Option 3 for Patient Services, then press 1 “for more information on ASMD.”

This number and more ASMD-related information can also be found at www.ASMDFacts.com

MAT-US-2100595

INPDR Update

This month, the INPDR launched the first of a quarterly newsletter for professionals working with the Niemann-Pick disease community. The newsletter is an opportunity to keep readers informed of our operational progress, as well as recruitment updates. We will also be covering events and projects in the pipeline. A separate newsletter especially for patients, their families, friends and carers will be launched early in the Spring.

We need your help to make sure the newsletter is what you want it to be and tells you what you want to know. The team behind the INPDR are so excited about the difference our work can make to progress and the future for the Niemann-Pick community across the world but what really matters is what patients and their families think. Patients are at the heart of everything we do so it is our hope the newsletter will inform and inspire. What would you like to know?

There are no silly questions and over the coming months we will try to cover everything you want to know: How easy is it to sign up? Maybe you don’t understand what a patient registry like us is for? Perhaps it’s hard to see what difference our work will make? When your To-Do list is as long as your arm, why should you care about the INPDR?

Please feel free to get in touch through email (angela.wilson@inpdr.org), visit inpdr.org/contact-us/ or social media channels with questions, thoughts and ideas – whichever way you feel comfortable sharing your thoughts, we’d love to hear them.

You can also sign up to receive our quarterly newsletter by clicking here.

Learn more about INPDR here.

Emergency Hardship Program

The NNPDF Emergency Hardship Program offers help to qualified NNPDF U.S. member families facing a crisis. Funding includes but is not limited to, specialized medical equipment, durable medical goods, utility bills (heating and cooling, electricity, phone, water and sewer), home and car repairs, and bereavement expenses. This assistance program provides relief to members facing a situation that threatens their immediate health and safety, or that causes a terrible hardship. It is intended to provide short term financial assistance in a crisis situation and is not intended to address long term financial challenges.

If you have questions about this program, please contact Laurie Turner, Family Services Manager at 603-413-8707 or familyservices@nnpdf.org. Applications will be reviewed by the NNPDF Emergency Hardship Program Committee consisting of 2 Board members and 3 members-at-large.

To be eligible for funding, NPD individuals and families must reside in the US and must be enrolled as a member of the NNPDF for a minimum of 6 months prior to requests*. Funding is available for up to $1000 per calendar year per eligible member. Families with multiple children with NPD are eligible to apply for each affected individual. The NNPDF Board of Directors and Emergency Hardship Program Committee members work to keep the fund fiscally sound, by being the last resort to be used, limiting regular, recurring use by any one recipient, and encouraging donations.

Download and complete fillable PDF application, and return via email to Laurie Turner at familyservices@nnpdf.org.

*Those with new diagnoses are eligible to apply if diagnosis was within 6 months of request.
 

Clinical Trial Updates

Clinical trials are currently in progress to study and develop treatments for ASMD and NPC. The NNPDF posts new information regarding clinical trial updates as soon as it is received. Visit our Clinical Trials web page for up to date information on all clinical trials.

Updates from Cyclo Therapeutics: Cyclo Therapeutics Presents Positive Data from Clinical Development Program for Lead Candidate, Trappsol® Cyclo™, at WORLDSymposium 2021. Click here for complete announcement.

Update from Orphazyme: Orphazyme to showcase data on arimoclomol in Niemann-Pick disease Type C during the 2021 Annual WORLDSymposium. Click here for complete announcement.

Illustrate Your Imagination

HEY SUPERHEROES!

In recognition of Global Niemann-Pick disease Awareness Month, the Orphazyme team invites you to join us on a quest to “Illustrate Your Imagination.”

Our team often hears brave stories of your experiences living with Niemann-Pick disease and times when you took on challenges with deep personal courage, perseverance, care, and integrity. We’d like to help your super stories take flight.

Your mission, should you choose to accept it: Visit IllustrateYourImagination.com and download a kit to create your own comic. The kit is filled with page templates, instructions, and some flair to help bring your story to life. Submit your story to our online comic book gallery and check out submissions from other superheroes around the world.

We can’t wait to see the creative stories you come up with!

Regan Sherman
Head of Global Patient
Advocacy Relations
Orphazyme

Stay Connected With Us

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Supporting one another. Supporting our community.