April 2023 Newsletter
Family Support & Medical Conference | Early Bird Registration Discounts | NNPDF Cora Sterling Endurance Award | ASMD Scholarship Opportunity | Family Advisory Working Groups | Conference Accommodations | Conference Scholarships | Supporting the Niemann-Pick Community | Navigating Together | Invisible Interviews “Alec’s Story” | NNPDF In Action | Family Assistance & Support Program | Niemann-Pick Diseases Synopsis | ASMD Survey Opportunity | Pfrieger’s Digest | Rare Disease Advisory Councils | The Assistance Fund | Comprehensive Care Centers | Fundraising | Clinical Trial Updates | Surveys, Studies, & Market Research | NNPDF Membership
Early Bird Registration Discounts
Register by May 15th
Discounted Registration Rate:
Register by May 15th 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 $400 (adults $150 and children $50). 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 glad to have you!
NNPDF Cora Sterling Endurance Award
Nomination Deadline May 15th
Do you know a great young person who shines for Niemann-Pick awareness? NNPDF is seeking nominations for the NNPDF Cora Sterling Endurance Award. This award is presented annually at the NNPDF Family Support & Medical Conference to a young person (under age 25) who shines in raising awareness of Niemann‐Pick disease in the community.
Joele Ruppert & Joseph Colton ASMD Scholarship
Application Deadline May 15th
NNPDF is accepting applications for the Joele Ruppert and Joseph Colton ASMD Scholarship created in honor of the lives of these two cherished children (both diagnosed with ASMD) and their parents. This scholarship provides one-time funding of $500.00 to individuals diagnosed with ASMD.
NNPDF Family Advisory Working Groups
Application Deadline May 31st
NNPDF will host Family Advisory Working Groups that will take place on Thursday, July 20, 2023 from 1:00 pm – 4:00 pm EST. This is an optional event that will take place prior to the start of our Family Support & Medical Conference at the Wyndham Grand Hotel in Orlando. Family Advisory Working Groups will provide Industry partners the opportunity to connect privately with a group of 6-10 NPC or ASMD patients and/or immediate family members for a 3-hour session. Pre-registration is required. Application deadline is May 31st.
Scholarship funding is available to help families attend the 2023 NNPDF Family Support and Medical Conference. NNPDF members living in the US are eligible to apply for scholarship assistance. The NNPDF Family Conference Scholarship is available for families to help ease the cost of attending the family conference. This scholarship is limited to immediate family members of an individual with Niemann-Pick Disease.
Supporting the Niemann-Pick Community in an era where treatments are possible
By Laurie Turner, NNPDF Family Services Manager
Throughout its history, the National Niemann-Pick Disease Foundation (NNPDF) has been committed to providing support that can make the journey of living with Niemann-Pick disease easier. And for most of that time, the focus has been on helping patients get the information and support they need while no approved treatments have been available. In my role as NNPDF Family Services Manager, I have seen firsthand how patients and caregivers have worked tirelessly to support research and to take whatever steps are available to preserve and protect their health. I have witnessed extraordinary efforts to overcome so many challenges and to try to stay positive and keep fighting. And at NNPDF we have continually worked to expand and revise our resources and support programs to meet the changing needs of our community in new and better ways.
NNPDF Family Services is launching the new Navigating Together: Moms of Adults diagnosed with NPC small group program for mothers in our community with adult children living with NPC that were diagnosed at the age of 21 or older.
Virtual Sessions will be held May 1, May 22, and June 12 from 4:00 – 5:00 pm ET
Our program will include small group sessions specifically for mothers to come together and share (via Zoom online platform) with one another under the guidance of Shoshanna Hecht, Licensed Clinical Social Worker, Executive + Personal Coach. Sessions are at no cost to NNPDF community members and space is limited. Preregistration is required.
If you would like to participate in Navigating Together: Moms of Adults diagnosed with NPC, be sure to register in advance.
If you have any questions about Navigating Together: Moms of Adults diagnosed with NPC, or have a suggestion for Navigating together future programming, please contact Laurie Turner, Family Services Manager at email@example.com or 603-413-8707.
Invisible Interviews "Alec's Story"
The final installment of the “Invisible Interviews” series is here! This was a collaborative effort released through the INPDA International Niemann-Pick Disease Alliance featuring Gail Koujaian, NNPDF Board of Directors and Alec Koujaian, NPC. The story is as emotionally powerful as it is entertaining, with both vulnerability and passion – we feel privileged to be able to share with you all.
NNPDF In Action
Taylor Sabky, NNPDF Board of Directors, Joslyn Crowe, NNPDF Executive Director, and Laurie Turner, NNPDF Family Services Manager attended the Lysosomal Storage Disorders Advocacy Coalition newborn screening event at the State House in Massachusetts to represent the ASMD community in support of legislation that would expand the newborn screening panel to include several lysosomal storage disorders. Taylor shared her son Purnell’s journey with ASMD and the impact that early awareness of the disease through newborn screening would have made on their lives.
If passed, HD 314, The Lysosomal Storage Disease Newborn Screening Legislation would add Niemann-Pick Disease ASMD, along with 5 additional rare diseases, on the Massachusetts Newborn Screening Panel. We are grateful to our state legislators for making space to consider this important bill and to the other patient advocates for sharing their stories.
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 Laurie Turner, Family Services Manager at 920-542-4038 or firstname.lastname@example.org if you have any questions about this program.
The Niemann-Pick type diseases – A synopsis of inborn errors in sphingolipid and cholesterol metabolism
In this article Frank W. Pfrieger, PhD, provides a comprehensive description and detailed history of the Niemann-Pick diseases including a listing of all experimental therapies to date. Read the article.
Help Us Better Understand ASMD Survey
Pinpoint Patient Recruiting, a market research recruitment company, is searching for people living with ASMD, as well as caregivers of people living with ASMD, to participate in a series of paid market research opportunities. The objective of the opportunities is to better understand the experiences of people living with ASMD, as well as their caregivers, and help improve their quality of care. The activities can be done from home at a date/time that is most convenient for you. All participants must live in the US. Read complete details.
NNPDF is pleased to share the latest edition of Pfrieger’s Digest, written by Frank Pfrieger, PhD of Niemann-Pick Selbsthiifegruppe (Germany). This publication provides a summary of research advances based on selected peer-reviewed publications in scientific journals. Read Issue 8.
Rare Disease Advisory Councils
NNPDF continues to support Rare Disease Advisory Councils (RDACs) across the country. RDACs give rare disease community members a unified voice in state government and provide a valuable resource to elected officials on rare disease education and challenges. Currently, 24 states have RDACs. NNPDF recently signed in support of creating an RDAC in the state of Texas. Read the letter and learn more about this issue.
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 Laurie Turner at email@example.com.
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.
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 Allison Reiter and Dakota Cramer who recently hosted Facebook Fundraisers for the NNPDF! We truly appreciate your support!
Want to host your own Facebook Fundraiser? It’s easy! Visit facebook.com/fund/NNPDF to get started!
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.
Surveys, Studies, & Market Research
Be sure to check out our Surveys & Market Research webpage for current survey and study opportunities in the Niemann-Pick disease space. Participating in surveys and studies is important to the advancement of health options for our Niemann-Pick community members. Contact Laurie Turner at firstname.lastname@example.org for any questions.
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.
For assistance contact Laurie at email@example.com or call 920-542-4038