Category: Uncategorized

May 2025 Newsletter

Uncategorized

July 10-13, 2025

Embassy Suites by Hilton Charlotte/Concord Golf Resort & Spa
Concord, North Carolina

We look forward to seeing you at our 33rd Annual NNPDF Family Support & Medical Conference! Be sure to watch NNPDF communications for important updates. We look forward to seeing you there!

For all conference information visit nnpdf.org/conf.

Conference Registration

Conference Shirt Deadline – Register by June 10th to ensure your complimentary 2025 NNPDF Family Support & Medical Conference shirt will be waiting for you at the conference!

First Time Attendee Discount: Enjoy a 10% discount off your registration! We’re happy to have you join us!

June 28th is the final day for registration so please be sure to complete your registration by this important deadline.

Accommodations

Reserve by June 11th

Our 2025 conference will be held at the beautiful Embassy Suites by Hilton Charlotte/Concord Golf Resort & Spa in Concord, North Carolina. The NNPDF group rate will be available until June 11th, 2025. NNPDF Group Rate is $179 ($203.61 including taxes) per night. The NNPDF hotel group rate is available three days before and three days after the conference, dependent on hotel availability.

Special Offer for Conference Attendees

We are excited to share a special offer for Family Support and Medical Conference attendees.

Order your NNPDF gear by June 10th and take advantage of FREE SHIPPING when you pick up your merchandise at the NNPDF Family Support & Medical Conference!

It’s easy!

Select your gear and place your order
In Shipping Method select “PICK UP AT CONFERENCE for FREE”
Grab your gear at the conference!

I Need A Cure for NPD - ASMD - Store Image

Someone I Love Needs a Cure - NPC - Store Image

NNPDF Supports Newborn Screening Committee

NNPDF joins the broader rare disease community in signing on to preserve the Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC) federal-level committee focused on newborn screening. This committee plays a vital role in the early diagnosis of rare and serious genetic conditions in newborns, and its continued work is essential to the future of this important effort. We’re proud to stand with our partners in support of this initiative.

Read the community letter of support.

NPC Study Opportunity: Help us better understand the impact of living with NPC

Niemann-Pick type C (NPC) impacts the quality of life for both those living with the condition and their families and caregivers. If you have NPC or care for someone with NPC, we invite you to join our research study and share your experiences. Your participation is crucial in helping us better understand NPC and improve support for those affected.

Learn more and find out how to get involved. Your voice matters!

Courageous Parents Network Virtual Workshop

Courageous Parents Network invites you to join their upcoming virtual workshop: Parent Perspectives: Insights into Medical Decision-Making on Wednesday, June 25, 2025 at 12:00 PM ET.

Making decisions about interventions like feeding tubes or tracheostomies is one of the toughest responsibilities caregivers face. In this session, a panel of experienced parents will share what guided their choices, the challenges they faced, and how they worked with their care teams. Gain real-life insight and practical advice to support your own decision-making journey. Moderated by Gabrielle Conecker, a public health advocate with over 20 years of experience.
Register here!

Milestones

Do you have a special milestone to share with our Niemann-Pick Community? Please consider submitting milestone moments and family photos so we can showcase the special moments you have been a part of.

Send a photo along with the details to [email protected] and we’ll publish it in future communications!!

Community News Update

NNPDF shares news and information regarding our community as soon as it is received. Visit our Community News web page for up to date information.

Update from Azafaros: Azafaros announces its completion of an oversubscribed €132M Series B financing enabling accelerated development of its lead product nizubaglustat, scheduled to enter Phase 3 studies for Niemann-Pick disease Type C (NPC) and GM1/GM2 gangliosidoses later this year. Read the complete update.

Be Part of the Story: Submit Your Photos!

We’d love to feature the incredible strength and spirit of our community by including your photos in our communications and promotions throughout the year! Whether it’s a family photo or a picture of your Niemann-Pick warrior, your photo helps tell our story. By sharing them, you’ll help us spread awareness, build support, and highlight the power of our amazing community. Please send your favorite photos today to [email protected]!

Thank you for supporting our NNPDF community. We truly appreciate and THANK each and every one of you for all you do.

Family Assistance & Support Program

The NNPDF Family Assistance & Support Program (FASP) provides relief to NNPDF U.S. member families that may be facing a financial obstacle that requires short-term financial assistance. Funding includes but is not limited to, specialized medical equipment and goods, utility bills, adaptive home repairs, home and car repairs, car payments, rent and mortgage payments, and bereavement expenses. Learn more about the NNPDF Family Assistance & Support Program.

Please contact [email protected] if you have any questions about this program.

Fundraising

Contributions through fundraising by NNPDF members, families and friends are used to provide services and information to individuals and families affected by NPD, as well as supporting research into finding treatments. Please continue to host and support NPD fundraisers. Awareness Events promote awareness to the general public about Niemann-Pick Disease.

THANK YOU to Suzanne O’Leary who recently held a Facebook Fundraiser!

If you have recently hosted a fundraising event, send us your photos and we’ll share them and details from your event in upcoming newsletters! Want to host your own fundraiser? Facebook Fundraisers are an easy option! Visit facebook.com/fund/NNPDF to get started!

ASMD Accelerate

The Assistance Fund

Struggling with out-of-pocket expenses due to acid sphingomyelinase deficiency (ASMD)? The Assistance Fund is an independent charitable patient assistance organization helping patients and families by providing financial assistance for the cost of treatment and other health-related services. Through its Acid Sphingomyelinase Deficiency Financial Assistance Program, eligible individuals can receive assistance for all FDA-approved treatment for ASMD. Learn more.

Comprehensive Care Centers

NNPDF provides a listing of medical institutions that have experience in caring for and treating Niemann-Pick disorders. This project is supported by our Scientific Advisory Board and we are proud to offer this valuable resource to our families as they search for medical care and treatment. This information has been provided to us by the institutions. Click here to learn more!

If you are connected with a medical team that would like to be added to the NNPDF Comprehensive Care Centers listing, please contact [email protected].

NNPDF Membership

Enrolling, confirming, or updating your membership will ensure we have accurate information for you and your family. This will help us to continue to provide you with important notifications and updates from the NNPDF.

Click here to update or enroll today!

For assistance contact [email protected] or call 877-287-3672.

Supporting one another. Supporting our community.

April 2025 Newsletter

Uncategorized

Message from our Executive Director

Hi everyone,

A month into the role as your Executive Director, I’ve now met with every board member and scientific advisor, as well as our vendors, industry partners, and more. I’ve also begun hosting a series of Community Conversations (with families) and Clinical Conversations (with our doctors and their office staff) in an effort to build out some resources for our families that can support you through insurance and access barriers. As I learn more about what these hurdles and burdens look like, I’m interviewing experts and working on a three prong approach that should encompass casework support, toolkits and materials to get ahead of the problems, and policy advocacy to educate policymakers about improving the laws and regulations that allow these hurdles to exist in the first place.

If you haven’t yet signed up for one of the Community Conversations, please do. Watch for new sessions coming soon! Whether your insurance problems are behind you or you’re dealing with them now, it would help me to learn what worked as I create the resources and tools that might help.

I also can’t wait to meet you at the Family Support & Medical Conference in Concord, NC in July. As the staff pulls together another wonderful conference this year, I want to remind you to register! We have lots of great speakers, including a session on public policy and what is happening in Washington, D.C. Also, last call on signing up for the Family Advisory Working Groups and Conference Scholarships – final deadline is April 20th! Join us and make this year’s family conference a success!

Warm regards,

Saira Sultan, JD
NNPDF Executive Director

July 10-13, 2025

Embassy Suites by Hilton Charlotte/Concord Golf Resort & Spa
Concord, North Carolina

We look forward to seeing you at our 33rd Annual NNPDF Family Support & Medical Conference! Be sure to watch NNPDF communications for important updates. We look forward to seeing you there!

For all conference information visit nnpdf.org/conf.

Family Advisory Working Groups

Final Deadline April 20th

The National Niemann-Pick Disease Foundation, Inc. (NNPDF) will host Family Advisory Working Groups that will take place on on Thursday, July 10, 2025 prior to the start of our Family Support & Medical Conference at the Embassy Suites by Hilton Charlotte/Concord Golf Resort & Spa in Concord, North Carolina.

Family Advisory Working Groups facilitate communication between Niemann-Pick families and the pharmaceutical industry, offering valuable insights into the patient and family experience. These sessions provide industry partners with the opportunity to engage privately with a small group of ASMD or NPC patients and/or immediate family members for a 3-hour discussion. This is an optional event and pre-registration is required.

Family Conference Scholarships

Final Deadline April 20th

Scholarship funding is available to help NNPDF families ease the cost of attending the 2025 NNPDF Family Support and Medical Conference in Concord, North Carolina. Scholarship assistance will provide up to 3 nights hotel (room and tax only at the group rate) and up to 2 adult conference registrations for eligible applicants. Scholarship assistance is limited to immediate NNPDF U.S. family members of an individual with Niemann-Pick Disease.

Conference Registration

Early Bird Registration: Save by May 14th

Discounted Registration Rate:
Register by May 14th to take advantage of discounted registration fees.

Family Registration Discounted Rate:
EARLY BIRD REGISTRATION ONLY – Register 2 adults and 2 children (age 17 and younger) at the early bird registration rate of $500 (adults $175 and children $75). Any additional children in your immediate family will be free of charge.

First Time Attendee Discount:
Enjoy a 10% discount off your registration! We’re happy to have you join us!

Accommodations

Reserve by June 11th

NNPDF Cora Sterling Endurance Award

Application Deadline May 15th

Do you know an inspiring young person who’s making a difference in raising Niemann-Pick awareness? Nominate them for the NNPDF Cora Sterling Endurance Award! This special award is presented annually at the NNPDF Family Support & Medical Conference to a remarkable individual under age 25 who shines in raising awareness of Niemann-Pick disease in the community. Don’t miss the chance to celebrate their efforts!

Joele Ruppert & Joseph Colton ASMD Scholarship

Application Deadline May 15th

NNPDF is accepting applications for the Joele Ruppert and Joseph Colton ASMD Scholarship. This scholarship provides one-time funding of $500 to individuals diagnosed with ASMD for studies in post-secondary (high school) degrees, including two-year colleges, four-year colleges, vocational schools, and other post-secondary institutions.

National Volunteer Month

Volunteers are essential in the progress of Niemann-Pick Disease awareness and your NNPDF organization!

During NATIONAL VOLUNTEER MONTH we acknowledge each of you who have generously given your time and energy to keep your NNPDF family support organization moving forward. We truly appreciate and THANK each and every one of you for all you do.

NNPDF Board of Directors volunteer selflessly to serve in these vitally important roles.
Scientific Advisory Board members advocate for your cause.
Family conference leaders and helpers give their time tirelessly and unconditionally.
Friends and family members volunteer to raise funds that contribute to Niemann-Pick disease research and support your family organization programs.
Families give their time in simply supporting one another through the trials and struggles that Niemann-Pick disease brings.

Your community is growing stronger because of you! Thank you!

Supporting One Another. Supporting Our Community.

Celebrating Leadership:

Justin Hopkin Appointed INPDR Chief Scientific Officer

We’re proud to congratulate Justin Hopkin on his new role as INPDR’s first-ever Chief Scientific Officer! Justin has long been a dedicated advocate for our Niemann-Pick families, and this exciting new chapter is a well-deserved recognition of his tireless commitment to advancing care, research, and community support.

As an INPDR Ambassador, member of the Niemann-Pick community, and now CSO, Justin brings both deep personal insight and scientific leadership to the role. Join us in celebrating this exciting achievement and all that it means for the future of the Niemann-Pick community.

#RAREis Scholarship Application Open

Living with a #RareDisease? Have a dream to pursue your education? Perhaps a $5,000 scholarship would help. The #RAREis Scholarship Fund is now accepting applications for 2025!

The #RAREis Scholarship Fund is available for any rare disease patient who is age 17+ and has a U.S. residency. Applicants must be enrolled in an accredited course(s) for Fall 2025 Semester. Therefore, it is not degree specific!

If financial burden has held you back before, now is the time to pursue those dreams! Learn more.

NPC Study Opportunity: Help us better understand the impact of living with NPC

Learn more and find out how to get involved. Your voice matters!

Courageous Parents Network Virtual Workshop

Courageous Parents Network invites you to join their upcoming virtual workshop: Hear from the Siblings: Sharing Their Journey with Medical Complexity on Wednesday, April 23rd at 8:00 pm ET.

Do you wonder or worry about the siblings? Come hear from the siblings themselves about how loving and caring for a brother or sister with medical complexity shapes them. Join a panel of siblings to gain insights into the fears and worries that siblings carry, the things that helped them (and those that didn’t), and how loving a brother or sister with medical complexity shapes them.

This session will be moderated by Dr. Wendy Plante, who for over twenty years has worked with siblings of children with illness and disability and their families and has been involved with research and training to address siblings’ needs. Register here!

Be Part of the Story: Submit Your Photos!

Thank you for supporting our NNPDF community. We truly appreciate and THANK each and every one of you for all you do.

Family Assistance & Support Program

Please contact Laurie Turner, Family Services Manager at 920-542-4038 or [email protected] if you have any questions about this program.

Fundraising

THANK YOU to those who have recently held Facebook Fundraisers!

NNPDF Store

Did you know our store has some great items to help raise awareness for Niemann-Pick Disease? Awareness shirts are available in 3 designs with ASMD, NPC, or Niemann-Pick Disease options – available in T-Shirt or Hoodies. Personalization for your family is available. Be sure to check out our NNPDF apparel and logo items and send us your photos with your new gear! Allow 2 weeks for delivery. US only.

ASMD Accelerate

The Assistance Fund

Comprehensive Care Centers

If you are connected with a medical team that would like to be added to the NNPDF Comprehensive Care Centers listing, please contact Laurie Turner at [email protected].

NNPDF Membership

Click here to update or enroll today!

For assistance contact Laurie at [email protected] or call 920-542-4038

Supporting one another. Supporting our community.

March 2025 Newsletter

Uncategorized

Message from our Executive Director

Dear Members of the NNPDF Community,

It is an honor to be joining this community of patients and families, and I look forward to working tirelessly on your behalf. With more than a decade of experience in the rare disease world and over 30 years in health care policy, my goal is to listen and learn from each of you as I work alongside the NNPDF Board to meet and exceed your expectations.

A little about me – after graduating from University of Virginia’s School of Law, I started my career on Capitol Hill in Washington, D.C., working in the House of Representatives and then the U.S. Senate. I then led reimbursement policy for Medtronic, a Minnesota medical device company before leading all U.S. policy, government affairs, and advocacy for an association representing cancer centers. Later, I led similar functions when I opened the Washington D.C. office for Sanofi, and then went on to lead Pfizer’s executive branch relationships, including FDA, CMS, and HHS. I have run my own consulting practice this past decade, where I have represented industry, patient, and provider organizations, successfully changing numerous policies to improve the environment for innovation and access to treatments for patients. I hope to bring this experience to NNPDF in ways that sustain and improve the services you have come to expect from NNPDF.

I live in the Washington, D.C. area – and perhaps, what is most important to know about me, I’ve been happily married for just over 25 years, with two wonderful children: one finishing college in Hoboken, NJ and one finishing graduate school in Australia. I’m also fortunate to live near my mom, also an attorney and my role model for how to have a fulfilling career and family.

I appreciate I have big shoes to fill, and I certainly can’t do this alone. While NNPDF has a wonderful Staff and Board, I look forward to hearing from each of you about your concerns and hopes for this organization and community. In the coming months, I will be reaching out proactively to as many of you as I can – and will find some time in the July Family Support & Medical Conference schedule as well – to learn from you. I also invite you to reach out to me at [email protected]. Let’s share in the commitment I have made to support you and NNPDF’s mission.

Warm regards,

Saira Sultan, JD
NNPDF Executive Director

July 10-13, 2025

Embassy Suites by Hilton Charlotte/Concord Golf Resort & Spa
Concord, North Carolina

We look forward to seeing you at our 33rd Annual NNPDF Family Support & Medical Conference! NNPDF has many exciting opportunities to connect with expert clinicians, researchers, and other Niemann-Pick families who share your journey. Be part of meaningful discussions, engaging family break-out sessions, important advocacy and FDA updates, Family Advisory Working Groups, our heartfelt We Remember Them video tribute, and much more.

Be sure to watch NNPDF communications for important updates. We look forward to seeing you there!

For all conference information visit nnpdf.org/conf.

Conference Registration

Early Bird Registration: Save by May 14th

Discounted Registration Rate:
Register by May 14th to take advantage of discounted registration fees.

First Time Attendee Discount:
Enjoy a 10% discount off your registration! We’re happy to have you join us!

Accommodations

Reserve by June 11th

Family Conference Scholarships

Application Deadline April 10th

NNPDF Family Advisory Working Groups

Application Deadline April 15th

NNPDF Cora Sterling Endurance Award

Application Deadline May 15th

Joele Ruppert & Joseph Colton ASMD Scholarship

Application Deadline May 15th

Volunteer Opportunities

Volunteers play a vital role in supporting our Niemann-Pick community by raising awareness and helping our family support organization thrive. How can you contribute to NNPDF? We are reaching out to our community to see how YOU can help! We would like to know if you’re interested in offering your skills and time to assist NNPDF. All forms of support are greatly appreciated, currently we are looking for individuals who may be interested in the following:

Board Members
Committees
Focus Groups & Patient Advisory Committees
Advocacy and Outreach
Other specialized skills you may have!

If you are interested in becoming a NNPDF volunteer, please send your resume or a letter of interest and let us know what you are passionate about that may be an asset to the Foundation. Please share your work experience, hobbies, or skills. For example: I like working with numbers, I love to coordinate fundraising events, I work for a company that offers volunteer opportunities etc. Please reply by MARCH 30th to [email protected] and we will follow up with you.

Thank you for supporting our NNPDF community. We truly appreciate and THANK each and every one of you for all you do.

Supporting One Another. Supporting Our Community.

Rare Disease Week on Capitol Hill

NNPDF was proud to have one of our community members attend Rare Disease Week on Capitol Hill in Washington, DC last month. Garland Alvey attended the weeklong event.

Rare Disease Week on Capitol Hill empowers and inspires hundreds of advocates each year. Rare Disease Legislative Advocates (RDLA), a program of the EveryLife Foundation for Rare Diseases, brings together hundreds of rare disease individuals, family members, caregivers, and advocates from across the country to make their voices heard by their Members of Congress. Participants are educated on policy proposals impacting the rare disease community and provide opportunities to advocate for policy changes directly to their Members of Congress.

Thank you to Garland for sharing your voice and advocating on behalf of our entire Niemann-Pick Community. Read Garland’s summary report.

Be Part of the Story: Submit Your Photos!

Thank you for supporting our NNPDF community. We truly appreciate and THANK each and every one of you for all you do.

NPC Study Opportunity: Help us better understand the impact of living with NPC

Learn more and find out how to get involved. Your voice matters!

Family Assistance & Support Program

Please contact Laurie Turner, Family Services Manager at 920-542-4038 or [email protected] if you have any questions about this program.

#RAREis Scholarship Application Open

Living with a #RareDisease? Have a dream to pursue your education? Perhaps a $5,000 scholarship would help. The #RAREis Scholarship Fund is now accepting applications for 2025!

If financial burden has held you back before, now is the time to pursue those dreams! Learn more.

Comprehensive Care Centers

If you are connected with a medical team that would like to be added to the NNPDF Comprehensive Care Centers listing, please contact Laurie Turner at [email protected].

NNPDF Store

Fundraising

THANK YOU to Pattie Hopkins, Lynn Ell, and Jennifer Walker Davis who recently held Facebook Fundraisers!

ASMD Accelerate

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.

The Assistance Fund

NNPDF Membership

Click here to update or enroll today!

For assistance contact Laurie at [email protected] or call 920-542-4038

Supporting one another. Supporting our community.

September – October 2021 News

Uncategorized

Message from the Executive Director | Niemann-Pick Awareness Month
NPC-FDA Listening Session Summary Report | NPC Virtual Hill Day
Liz Heinze – NNPDF Secretary | 2022 Family Support & Medical Conference
Health Care Workers Thank You Cards | Family Journey | Medicaid Waivers
Circle of Care Guidebook | Research Study & Survey Opportunities
Fundraising | Membership Update | Community News Updates
Comprehensive Care Centers | Emergency Hardship Program | Patient AirLift Services

Message from the Executive Director

Dear NNPDF Community,

This month, October, is Niemann-Pick Awareness month. One of the most important times of year for us, as a community, to join our voices together to remember those we have lost and unite for a hopeful future for our loved one. As we continue to fight for approved treatments, we have messaging in our social media posts and on our website that can be shared with your friends and family, with your schools, and with influentials in your area. Please check our calendar of event for programming geared to all families, at all stages of the Niemann-Pick journey, throughout the month including educational materials, advocacy actions, community connections “chats”, webinars, a virtual kid’s dance party, and special Facebook frames commemorating Niemann-Pick Awareness month.

Of course, none of our work is possible with the support of our donors. Thank you for helping us best serve Niemann-Pick families across the U.S., and allowing us to provide vital resources that support families and ensure our families that they are not alone in this journey. To support our important work and make an impact, please donate here.

Warm Wishes,

Joslyn Crowe, MSW, MA
NNPDF Executive Director

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Niemann-Pick Awareness Month

October is Niemann-Pick Awareness Month! Support One Another and Support Your Community by raising awareness and educating others about Niemann-Pick Disease in your community. Events will be hosted throughout the month – details will be shared when they become available. With your help in spreading awareness, we will make a difference for families at all stages of the Niemann-Pick journey and help us deliver hope!

EVENTS:

Coffee & Catching Up – Tuesdays at 11:00am EST
A fun and informative evening for the entire family:
Community Update Webinar Series: Cyclo Therapeutics &
A Spooky Halloween Music and Comedy Concert for Kids hosted by Cyclo Therapeutics
Thursday, October 14, 2021
Kids event starting at 7:00pm EST – Join Here Zoom Meeting ID: 875 0450 1568
Webinar starting at 7:05pm EST – Webinar Registration
AllStripes NPC Siblings Study Webinar – Thursday, October 21, 2021 at 7:30pm EST. Register Here
Community Connections
Wednesday, October 13th at 1:00pm EST Register here
Thursday, October 28th at 1:00pm EST Register here

GET INVOLVED!

USE the Niemann-Pick Awareness Month Facebook profile frame:

1. Click the camera on your Facebook profile picture.
2. Select the “Add Frame” option.
3. Type NNPDF in the “Choose a Frame” search window.
4. Select the “NNPDF Niemann-Pick Awareness Month” frame.

SHARE Niemann-Pick awareness posts and videos on your social networks.
SUPPORT NNPDF important advocacy, family services, and research programs through donations.
SHOP AmazonSmile, designating National Niemann-Pick Disease Foundation as your favorite charity.
HOST a NNPDF Facebook fundraiser! It’s easy – get started here!
SHARE our NNPDF Awareness Video!
THANK your Niemann-Pick health care workers! Let us know who they are and NNPDF will send them a special Thank You card.
DOWNLOAD, print, and share our NNPDF information page with family and friends.

Supporting One Another. Supporting Our Community.

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NPC Community Listening Session Summary Report

On August 3rd, another NPC Community Listening Session was held with the FDA. Thank you to our clinician and family speakers who participated. The Summary Report is now available and can be found on our website. We continue our outreach on these urgent topics with the FDA to ensure the patient and Niemann Pick community voice is heard. Read summary report.

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NPC Virtual Hill Day

An NPC virtual Capitol Hill Briefing is being organized by the NPC moms in coordination with Rep. Lesko of Arizona and Rep. Sewell of Alabama. The event will take place on October 21st from 11am – 12pm EDT. The goal of the briefing is to help more Members of Congress better understand NPC, learn about the recent and ongoing challenges we face as a rare disease, and be willing to help.

All families will be able to attend virtually, registration details will follow.

Please invite your member of Congress by contacting us at [email protected].

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Liz Heinze appointed as NNPDF Secretary

Congratulations to Liz Heinze on her appointment as NNPDF Secretary! Liz’s contributions to the Niemann-Pick community have been invaluable for families and we are proud to have her on our board.

NNPDF Board Members are essential in the progress of Niemann-Pick Disease awareness and your NNPDF organization. They volunteer selflessly to serve in these vitally important roles, giving their time and energy to keep your NNPDF family support organization moving forward. We truly appreciate and THANK each and every one of you for all you do.

Meet Liz Heinze NNPDF Board Secretary. We are grateful to have you on our team!

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Save the Date!

Mark your calendars for July 28-31, 2022 for our 30th Annual NNPDF Family Support & Medical Conference! Join us at the Wyndham Grand in sunny Orlando, Florida as we come together to share, learn and celebrate 30 years of community!

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Health Care Worker Thank You

Health care workers play an important role in the lives of our Niemann-Pick families and are valued throughout our community. NNPDF is offering to send out Thank You cards to our Niemann-Pick health care workers to let them know they are very important to us. To participate, send us your health care workers information and we will send them a Thank You card on behalf of our Niemann-Pick community.

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Family Journey

During our NNPDF Family Support & Medical Conference we were honored to have Niemann-Pick community members share their Niemann-Pick stories with us.

Today we feature Barbara Lazarus as she shares her family story in raising 2 sons, Daniel and David, with NPC. Thank you, Barbara for sharing your heartfelt and personal story with us. Watch Barbara’s family journey.

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Medicaid Waivers

In this presentation, Amy Aikins, Director of Government and Social Programs at the Little Hercules Foundation provides an overview of waiver programs, why you might be interested in enrolling your child, how to find out what waiver programs may be available, and tips for those who are already enrolled in a waiver program.

Amy has worked for several years in case management as both line and supervising staff, in program management, and in waiver administration. Thank you, Amy, for sharing this important information with our community.

Watch the recording of Amy’s NNPDF Family Support & Medical Conference presentation.

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Circle of Care Guidebook

Being a Caregiver for a child with a rare disease can be both enormously gratifying and extremely challenging. For most, the experience is life-altering, and for some, all-consuming. The Circle of Care Guidebook by National Alliance for Caregiving and Global Genes is intended to help Caregivers navigate through the varied experiences and challenges of rare and serious medical conditions, guided by the insights, achievements, and learnings of other caregivers and experts, including NNPDF Family Services Manager, Laurie Turner.

The Circle of Care Guidebook will help Caregivers more easily navigate through the needs and challenges of caring for children with rare and serious illnesses and find the right next steps to take on their behalf.

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Research Study & Survey Opportunities

AllStripes NPC Sibling Survey

AllStripes and NPC foundations are creating an NPC research program. The first study will support efforts to include NPC among conditions recommended for newborn screening.

For this study, we’re looking for families of 40 sibling pairs with NPC to join AllStripes. To participate in future research opportunities like this one, all families affected by NPC can join AllStripes.

View complete details for AllStripes Sibling Survey.

ASMD Accelerate Study

The ASMD Accelerate study continues to enroll both patients with Infantile Neurovisceral ASMD (NPA) and Chronic Neurovisceral ASMD (NPA/B).

Wylder Nation Foundation has partnered with PicnicHealth to launch the ASMD Accelerate study as a way for families to easily contribute to advancing research for ASMD.

There are two “caregiver” scenarios for enrollment:

1) Those who are currently on the medical journey and caring for a child with NPA or NPA/B
For these families, participation will not only help researchers better understand the disease but will also provide them with digital access to all of their medical records in one central location and give them the ability to share records with whomever they feel necessary such as other doctors or specialists.

2) Those whose child has unfortunately passed away from NPA or NPA/B
For these family’s participation is equally important to helping researchers better understand the disease and can serve as a way to carry on their child’s legacy and hopefully improve outcomes for future children diagnosed with the disease.

Enrolling in the study is easy and can be done via the study landing page. Once enrolled all you will need to do is provide a list of the doctors and/or care facilities your child has visited, and Picnic Health will do all the work of obtaining the medical records, structuring them, and uploading them to the family’s personal timeline. Click here for additional information and enrollment.

To review the recent ASMD Accelerate Study Webinar click here.

NPC Patient and Caregiver Experience Survey

You are invited to take part in a survey being conducted by Rare Disease Research Partners (RDRP) on behalf of Niemann-Pick UK (NPUK). The survey is entitled “Niemann Pick disease type C (NPC) patient and caregiver experience”. We know that NPC has an effect on quality of life for patients and caregivers. The purpose of this survey is to increase understanding of the impacts of NPC of patients and their families and to explore the effects of any treatments received.

The results of this survey may be used by decision makers in Europe and elsewhere, alongside other elements such as effectiveness and safety, when evaluating new medicines.

Before you decide whether to take part, please take time to read the survey information carefully and discuss it with others if you wish.

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Fundraising

If you have recently hosted a fundraising event, send us your photos and we’ll share them and details from your event in upcoming newsletters!

Thank You to the following who have recently hosted Facebook Fundraisers for the NNPDF! We truly appreciate your support.

James Bailey – Kay Lee – Tammie Sterling – Becky McGuire – Katherine Davis – Vera Stricklin – Kendra Harper – Raven Davis – Tara Pavey – Chrys Mount – Ariel Johnson – Cheryl Bujold-Carter

Want to host your own Facebook Fundraiser? It’s easy! Visit facebook.com/fund/NNPDF to get started!

Supporting One Another. Supporting Our Community.

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Membership Update

We are continuing to request that ALL current and interested community members confirm or update your membership information to ensure we have accurate contact information for you and your family for continued important notifications from the NNPDF. Thank you for your participation.

Click here to enroll today!

For enrollment assistance contact Laurie at [email protected] or call 920-542-4038

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Community News Updates

Cyclo Therapeutics Announcement:
Cyclo Therapeutics is pleased to announce the appointment of Lise Lund Kjems, MD, PhD as Chief Medical Officer. Read complete announcement.

NPC Community Listening Session Summary Report:
On August 3rd, another NPC Community Listening Session was held with the FDA. Thank you to our clinician and family speakers who participated. The Summary Report is now available and can be found on our website. We continue our outreach on these urgent topics with the FDA to ensure the patient and Niemann Pick community voice is heard. Read summary report.

Update from Mandos Health:
The following information was shared with NNPDF by Mandos Health and is also available at mandoshealth.com/communications. Read complete update.

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Comprehensive Care Centers

NNPDF has created a listing of medical institutions that have experience in caring for and treating Niemann-Pick disorders. This project is supported by our Scientific Advisory Board and we are proud to offer this valuable resource to our families as they search for medical care and treatment. This information has been provided to us by the institutions. Click here to learn more!

If you are connected with a medical team that would like to be added to the NNPDF Comprehensive Care Centers listing, please contact Laurie Turner at [email protected].

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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 [email protected]. 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 the fillable PDF application, and return via email to Laurie Turner at [email protected].

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

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Patient AirLift Services

Patient AirLift Services is a nonprofit that arranges free flights for medical patients requiring medical diagnosis, treatment or follow-up who cannot afford or are unable to fly commercially.

PALS also arranges volunteer flights for family members of patients as compassionate missions, to ensure patients have support when they are away from home for long periods. PALS is proud to assist military personnel and their families with free flights to aid in the recovery and rehabilitation processes for our wounded veterans. Click here for more information.