August News 2020
Message from the Executive Director
As summer comes to an end many of our families are starting a new school year and adapting to distance learning, hybrid schedules, or home schooling that COVID19 has brought us, others in our community are struggling with challenges from COVID related to job loss, financial stress, or emotional stress, and some in our community enter the fall celebrating milestones and special occasions while others are grieving the loss of their loved ones. It is a time of change for us all. Our new Family Journeys blog and Unaffected Siblings interview series feature stories of several of the families in our community and give insight into real experiences of families and individual’s Niemann-Pick experiences.
The coming months of autumn bring two significant markers in our space. September is Newborn Screening Awareness month and October is Niemann-Pick Disease Awareness month. Be on the lookout for special events and news throughout the coming months on ways we can increase awareness of the urgency of early diagnosis and treatment for Niemann-Pick Disease.
For now, there are 3 important initiatives I want to highlight and ask you to share:
1. NNPDF’s Challenges of Access study: The NNPDF wants to understand the challenges you may experience pertaining to accessing care and challenges you have experienced in coverage for medications, services, and devices. The information from this study will be essential as we advocate for Niemann-Pick families to ensure coverage for health care today and access to FDA-approved treatment in the near future.
Sign up by September 10th, 2020 to participate. A $100 honorarium is provided for your time.
Click here to learn more.
2. NPC Newborn Screening Research Study: NPC community foundations in the US and Canada are partnering with RDMD to create a research database that will power multiple NPC research studies and we need YOUR help to get the first important sibling study underway. which will focus on the question of whether early diagnosis and intervention for NPC result in better health outcomes and quality of life for patients. Results from this study may be used to seek a nomination for NPC to be added to newborn screening lists across the country, including the federal Recommended Uniform Screening Panel (RUSP).
Sign up by Tuesday, September 15th, 2020 to participate in this important program.
Click here to learn more.
3. 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.
To learn more, visit: nnpdf.org/family-services/ehp
As always, the NNPDF team is here for you to support your needs or answer your questions.
Joslyn Crowe, MSW, MA
NNPDF Executive Director
Supporting One Another. Supporting Our Community.
NNPDF Health Insurance Survey
As an organization committed to supporting patients and families with Niemann-Pick disease, we are currently conducting an important research project and need your help to collect information from the NPD community – this study is especially important as several clinical programs in the Niemann-Pick community are coming closer to submit to the FDA for approval.
The NNPDF wants to understand the challenges you may experience pertaining to accessing care and challenges you have experienced in coverage for medications, services, and devices. The information from this study will be a valuable tool for us as we advocate for Niemann-Pick families to ensure coverage for health care today and access to FDA-approved treatment in the near future.
Our research team felt that 90 participants for this study will provide accurate data and power. We have had a great response from the community to date but still need additional participants to reach that goal. The study will end on September 10th, so sign up today and help us reach our goal!
What does the survey involve?
It’s easy! Your involvement consists of filling out a Survey/RSVP and a 30-minute telephone interview. A $100 honorarium will be paid for your time. If you are not a member of NNPDF, you will need to provide a document that shows proof of disease (a school note, copy of chart note, or another document)
How can you participate?
To participate in the survey “Understanding Health Insurance Literacy and Challenges in Accessing Health Services in Niemann-Pick Disease Through the Eyes of Patients and Families” follow these steps:
- Go to https://t.ly/pyt5
- Check the box that says “Check if you have no code”
- Complete the Survey/RSVP
- Once you have completed the survey and RSVP, someone from the Engage staff will contact you and confirm the date and time of your telephone interview.
Learn more here.
DEADLINE IS SEPTEMBER 10th!
Question? Contact Joslyn Crowe, Executive Director.
Supporting One Another. Supporting Our Community.
Call to Action: NNPDF, APRMF, NPCanada and Firefly Fund Seek Your Participation in a first-of-its-kind Newborn Screening Research Study – Please sign up to participate HERE by Tuesday September 15th, 2020.
NPC community foundations in the US and Canada are partnering with RDMD to create a research database that will power multiple NPC research studies and we need YOUR help to get the first important sibling study underway. This first research project with RDMD, referred to as the sibling study, will focus on the question of whether early diagnosis and intervention for NPC result in better health outcomes and quality of life for patients. Results from this study may be used to seek a nomination for NPC to be added to newborn screening lists across the country, including the federal Recommended Uniform Screening Panel (RUSP).
We need NPC caregivers in the US and Canada that are willing to sign-on, sign-up, register and consent to research for this important study. It will take you less than ten minutes and all data shared with researchers is de-identified, or anonymized. No identifying information is shared.
Act Now: Signing up to participate by Tuesday September 15, 2020, is the first important step. The sign-up process is EASY and fast. One parent can sign-up multiple children under his/her account. Go to: rdmd.com/NPC
- Presently, the research can only include patients living in the US and Canada.
- Caregivers must consent to research, complete the HIPAA waiver and list at least one facility where the patient has received care.
- Patients own their data and parents will have access to their child/children’s records in a secure portal.
- There is NO cost to participate
Questions? Contact Joslyn Crowe, NNPDF Executive Director
NNPDF In Action
Congratulations to Evren Ayik who will receive Sanofi Genzyme’s TORCH Award on August 27th. The event will be held on Facebook Live – to join Sanofi Genzyme for the 2020 virtual TORCH Awards on August 27th from 7 – 8pm EST click here.
Evren motivates and inspires us all! This moving celebration will honor rare disease advocates who work tirelessly to transform outreach and create hope for the rare disease community throughout the United States. First established in 2017, the TORCH Awards program was created to recognize families and supporters in the rare disease community. Evren, thank you for your advocacy on behalf of the rare disease community. To watch Evren share his Niemann-Pick story click here.
NNPDF Board Member, Meghann Ferguson, along with her son Liam (NPC), were recently interviewed by CBS-affiliate television channel WDMV. They shared the importance of more awareness of NPC and the urgent need for approved treatments. For complete story click here.
During the Sanofi Genzyme Patient Advocacy Leadership Summit, NNPDF Executive Director Joslyn Crowe shared her insights on “Developing Your Board & Growing Your Organization” and the “Do’s & Don’ts of Going Virtual”.
NNPDF Executive Director, Joslyn Crowe, was featured as an expert speaker at the Inborn Errors of Metabolism Drug Development Summit speaking on “Effective Collaborations Between Industry and Patient Organizations”. She also spoke on the panel discussion “Tackling Ultra-Rare Inborn Errors of Metabolism: Addressing a Huge Unmet Medical Need” and as a workshop leader on “Patient Access & Recruitment for Rare & Ultra-Rare Metabolic Diseases”.
NNPDF Community Mobile App
The NNPDF Community app is now live! Use the Community section of the app to keep you connected to NNPDF friends & families and to stay up to date on our latest news – Download it today to your smartphone or tablet! Check your app for the latest news, updates and programs.
2021 NNPDF Family Support & Medical Conference
MARK YOUR CALENDARS! The 2021 NNPDF Family Support & Medical Conference will be held July 30 – August 1, 2021 in Orlando, Florida at the Wyndham Grand Orlando Resort Bonnet Creek. Registration and hotel information to follow.
Welcome to our new Family Journeys Blog! Follow 4 NNPDF families from across the country as their share monthly updates to brings some light and positivity to our community! Our blogger families share personal, uplifting, hopeful stories to show what it means to be living with Niemann-Pick disease and the brighter sides within our community. Check out the blog here.
Coming this fall, NNPDF will hold support sessions for living with loss. These 8-week programs will be led a trained professional and will offer a small-group space to share, learn, and heal. The program will be held virtually and will require an 8-week commitment.
Three tracks will be formed:
- Legacy families who have lost a loved one
- ASMD families
- Late onset NPC
Registration coming soon. To learn more or express your interest in joining the program, contact Laurie Turner at email@example.com.
The team from the INPDR hope all our friends and families from the NNPDF and US Niemann-Pick community continue to keep safe and well while the COVID-19 pandemic still impacts our lives, albeit with some easing of restrictions in places.
Back in June, we were very pleased to share the news that the INPDR had been awarded a grant from the Ara Parseghian Medical Research Fund, which we explained would accelerate our work in the US.
As part of this grant project, if you have been following our social media channels you may already be aware, we have started the recruitment process for a Clinical Research Associate (CRA). We have received a really positive response to our advertisement and will be moving onto the next stage of the recruitment process.
The appointment of a CRA will provide invaluable support to clinical centres to boost the quantity of data in the Registry, as well as help to ensure the highest standards of data quality. These two things are important because they help to make sure the data is as valuable as possible for research and progress for the Niemann-Pick disease community.
There has also been a good response to our email regarding account reactivation for those already signed up to the Patient Reported Database (PRD) – thank you to everyone who has followed the instructions to reactivate their account or got in touch with any queries.
Furthermore, we have seen several new PRD accounts being set up – it’s very encouraging to see this kind of support for the work of the INPDR so would also like to say thank you to all the families who have signed up.
Every piece of patient data is another step along the road to progress – the more patients and their families that take part, the greater the outcomes are likely to be.
Finally, we will be launching a quarterly newsletter later in the year for patients and their families, as well as another one for professionals, so the global Niemann- Pick community can keep up to date with our global progress. You can sign up using this link: Subscription list or visit the website: inpdr.org/contact-us for the link.
Remember, if you have any questions about the INPDR, please get in touch – we are always happy to help.
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 firstname.lastname@example.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 email@example.com.
*Those with new diagnoses are eligible to apply if diagnosis was within 6 months of request.
PALS is flying again! The decision to pause their missions due to COVID-19 was a very hard one to make. Now after careful consideration, PALS is beginning to resume select missions again! CLICK HERE to learn more.
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.
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. Click here to view current and past fundraising and awareness events.
THANK YOU to those of you who have already hosted a Facebook Fundraiser! Are you interested in hosting? It is a great opportunity to raise awareness and funds for the NNPDF. If you are hosting a Facebook fundraiser please email the NNPDF Central Office at firstname.lastname@example.org to let us know.
Check out our Upcoming Events page at nnpdf.org/news-media/upcoming-events/.
Newborn Screening Awareness Month
Community Update Webinar Series featuring Newborn Screening and the “Screen Plus” Program
Tuesday, October 13, 2020 | 8:00 pm EST, 5:00 pm PST
Click here to register!
International Niemann-Pick Disease Awareness Day
October 19, 2020
International Niemann-Pick Disease Registry (INPDR) Webinar
To Be Announced
NNPDF Family Support & Medical Conference
July 30 – August 1, 2020
Wyndham Grand Orlando Resort Bonnet Creek | Orlando, FL
A quick reminder that if you are not receiving our NNPDF monthly newsletter via email or have recently changed your address or email, please click here to join us or to update your information.