October 2020
Message from the Executive Director
Dear NNPDF Friends and Family,
October is Niemann-Pick Awareness month and throughout this month NNPDF has been raising awareness of Niemann-Pick disease through media interviews, community events, events with pharmaceutical partners, social media content, and our new video “Turning the Impossible Into Possible” featuring the faces of many friends and family members from throughout the country.
We have called upon several community members to share their stories publicly to highlight the severity of this disease and the urgency in having approved treatments and those efforts are greatly appreciated.
Our efforts don’t stop once the official awareness month is over. We continue to advocate on your behalf, to work towards available treatments, and to provide a family support system for Niemann-Pick families in the US. We do this through:
Family Services programs, personal connections, clinical information, and referrals for all families at all stages of their Niemann-Pick journey.
Advocacy programs to represent the patient and caregiver voice with the FDA, legislators, payers, and more, working to bring FDA-approved treatments to all families.
Research fellowships to foster scientific advancements and one day find a cure.
Emergency Hardship Program for those in dire need.
The International Niemann-Pick disease Registry to coordinate clinical and patient data globally and further future medical knowledge and treatment of Niemann-Pick.
Special programs for unaffected siblings and families of loss.
Annual Family Support & Medical Conference bringing together the largest US gathering of Niemann Pick families, clinicians, and researchers, for interactive learning, sharing, and family programs.We do it for you but we can’t do it without you! Your participation and support matters for our Niemann-Pick families. Together, we can make a difference this month and beyond.
Fondly,
Joslyn Crowe, MSW, MA NNPDF
Executive Director
Niemann-Pick Awareness Month
Niemann-Pick Awareness Month
Now is your chance to get awesome NNPDF gear!
For a limited time our NNPDF Pop-Up Online Store will be accepting orders for your NNPDF T-Shirts, Jackets, Hats and more! The online store will be open through November 21st. NNPDF gear will make great gifts for the Holidays with direct shipping.
NNPDF In Action
Doctor, Parent, and Rare Disease Advocate Dr. Justin Hopkin, NNPDF Board Chair, shares his family’s’ story with Patient Worthy. Read his story here.
Invisible Threads: Uncovering the Purpose of Community Connections For Isabelle and Garrett’s families, connecting to others living with a rare disease offered answers, courage and hope. Read article here. 
NNPDF’s Executive Director, Joslyn Crowe, spoke to CheckRare about How Families Cope with a New Rare Disease Diagnosis. Watch here. 
Living Beyond My Rare Disease Evren Ayik descibes life living with ASMD in a recent article published by The Mighty. Click here to read more. 
Why Awareness Days Matter to Me as a Parent of a Kid With a Rare Disease Meghann Ferguson, NNPDF Board member, spoke to The Mighty about why Niemann-Pick Awareness month matters. Read her story here.
Thank you to Global Genes for raising awareness of Niemann-Pick disease with this Rare Leaders Report profile feature article of NNPDF Executive Director, Joslyn Crowe. Read article here. Newborn Screening Clinical Roundtable Set for November
NNPDF is looking forward to Firefly Fund’s NPC Newborn Screening Clinical Roundtable set for Nov 13. The virtual meeting will be the second time that NPC and NBS expert clinicians and researchers will come together with a focus on when to intervene after a positive diagnosis of NPC through newborn screening. The meeting will include an update from Dr. Melissa Wasserstein of Montefiore on the launch of Screen Plus, an update from AllStripes LLC (formerly RDMD) on the NPC Sibling Study, as well as a first glance at a draft model for initiation of treatment. In addition to the 20+ roundtable experts, many NPC community and industry stakeholders will also be attending as observers of this important discussion.
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
In the Spotlight
Becky McGuire
NNPDF Vice Chair
Cousin of Kelly Thompson, NPC
Tell us a bit about yourself, such as where do you live and what do you enjoy doing.
I grew up in Bristol and New Hartford and graduated as a student athlete from Marist College. Additionally, I hold a master’s degree in integrated marketing communications from Marist. I have worked in the non-profit sector for more than 15 years. As an accomplished gymnast through my high school years, I credit the sport with providing a strong foundation for my work ethic. In my free time, I enjoy running, cross-training and lifting, and spending time with my family. My husband, Brad, who is the Athletics Director at the Foote School, and I live in Torrington with our three children, Grady, Carson and Kenna, and our dog, Hallie.
When did your cousin receive her diagnosis? What led her to diagnosis?
Kelly was accurately diagnosed in 2005. This was after many misdiagnoses. Kelly was faced with some learning challenges while she was attending college and this is what started the process that much later led to her diagnosis.
What were the first steps you took after her diagnosis?
Education, for her and our family on what this disease was, how it would affect her and what kind of treatment was out there. First steps and every step is hard emotionally and physically but all we can do is take one step at a time and educate ourselves as much as we possibly can throughout this journey.
How did you learn about NNPDF?
We as a family found the foundation when Kelly was diagnosed. It was a resource of educational materials and a place to not feel so along in this rare diagnosis.
What caused you to get involved with NNPDF initially and how has being an NNPDF member benefited your family?
I initially, and to this day, am involved with the NNPDF because I think there is a bigger “to do” with this disease. It’s not only raising money for research for a cure but its awareness and love and support for those that are going through this. We also have a larger purpose of making others aware of this disease so they don’t spend as long finding the proper diagnosis. Educating the public and providing resources for those that are fighting this disease are benefits that our family received but also what we want to pass onto others. We have to show our community the unbiased support each family deserves during this journey and be there for everyone..
What changes have you seen in the Niemann-Pick environment over the past 5 years?
The environment over the past few years has changed dramatically from my perspective. More people are opening up and being a voice for those that are fighting. The community has come together in a manner of support. It’s not a race to who will find the cure, it’s a collaboration of support, research, and resources for families. It is meant to be support and we are meant to love each other through the struggles of that we all face.
What are your hopes for the future for yourself and for the Niemann-Pick community?
My hope is that the community continues on this trajectory of positive support and that we as a community learn to have empathy for every families’ journey. Everyone is fighting this disease in their own way and having mutual respect for one and other is key to being the safety net of overall support.
NNPDF Community Mobile App
The NNPDF Community section of the app keeps you connected to NNPDF friends and families, and up-to-date on our latest news, updates, and programs throughout the year. The NNPDF Community Mobile App is available through the App Store and on Google Play.
Join the Community Game!
Check out the new COMMUNITY GAME and play along to win a prize! Follow the directions below to get started. Game ends November 31st!
Family Journeys Blog
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!
ASMD Updates
Sanofi Genzyme recognized Niemann-Pick Awareness Month with a special, global event focused on ASMD for internal colleagues on October 15. Sandy Cowie (President, INPDA) and Clara Fortune (US patient) shared their stories and educated over 800 Sanofi Genzyme team members from around the world about their experience with ASMD, signs, symptoms, and the challenges of living with such a disease so rare that you rarely meet someone else with your diagnosis.
Justin Hopkin and Amy Pender also partnered with Sanofi Genzyme to celebrate this month. Their family stories were shared in an online article at Sanofi Genzyme’s “Our Stories” section.
Evren’s story “Living Beyond My Rare Disease” is live on The Mighty! Sanofi Genzyme sponsored this article as part of our efforts to recognize the ASMD community as part of National Niemann-Pick disease Awareness Month. The story, the first dedicated post in The Mighty’s new ASMD specific community, shares Evren’s perspective on life, and his personal mantra – “go for it!”
You can read Evren’s story here. The Mighty is a digital health community created to empower and connect people facing health challenges and disabilities. They have over 2 million registered users and are adding a new one every 20 seconds. You, too, can join The Mighty to contribute your own story, join communities of interest to you, and find support.
Navigating Together: Support for all phases of Niemann-Pick disease
NNPDF is continuously working to meet the needs of our community. An area of need that we hope to help support are those surrounding loss (bereavement) and loss related to the Niemann Pick Disease Diagnosis. NNPDF Family Services is offering 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.
Our program will include small group sessions for bereavement and loss (via Zoom online platform) led by licensed professional trained in grief counseling. It will be free of charge for NNPDF community members and will require a 6 or 8-session commitment.
Navigating Together sessions will be held for ASMD and NPC Families. Sessions and times will be determined as we receive applications and participate availability. Sessions may include- late Onset NPC, Legacy Families, Newly Diagnosed Families.
If you would like to apply to participate in one of the Navigating Together Sessions, please complete the application here.
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.
INPDR Update
As October is Niemann-Pick Awareness Month, we’ve been running a campaign across our social media channels to celebrate our achievements, which of course are your achievements! We have focused on how much the Registry has grown, not only in the volume of data but also in our role as a ground-breaking, patient disease registry.
We have also shared some of our outreach work, collaboration and how we are amplifying the patient and family voice – aspects of our work that we are most proud of. If you’re part of the registry, not only are you part of something special but also something that has the power to effect real, positive change. We will keep pushing for progress for the Niemann-Pick disease community.
Sharing data as part of the Clinician Reported Database and/or Patient Reported Database will make a difference to the future because it offers researchers, clinicians, scientists and patient groups access to a greater quantity of data, plus higher quality and a natural history that is so hard to capture in the traditional model of patient registry.
We continue to work in the background to further develop our governance and ensure we continue to move forward with clear direction and purpose. This month, Jim Green, Chair of our Board of Trustees, has been showcasing the work of the INPDR at the Orphan Drug and Rare Disease Global Congress event.
One thing we have talked a lot about is recruitment of a Clinical Research Associate. We hope to be able to share some very exciting news about this with you next month so please watch this space!
You can sign up to our newsletter, due to launch in the New Year using this link: Subscription list or visit the website: inpdr.org/contact-us/.
Remember, if you have any questions about the INPDR, please get in touch – we are always happy to help.
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.
Update from Cyclo Therapeutics: Cyclo Therapeutics announces its Phase 3 pivotal program can begin enrollment of Trappsol® Cyclo™ for treatment of Niemann-Pick disease Type C. CLICK HERE for complete announcement.
Update from IntraBio: IntraBio reportsfurther detail positive data from IB1001 Multinational Clinical Trial for the treatment of Niemann-Pick disease Type C. CLICK HERE for complete latest news.
Update from Sanofi Genzyme: Olipudase alfa demonstrated significant improvement in lung function and spleen volume in patients with ASMD. CLICK HERE for complete announcement.
Community News Updates
Mallinckrodt Pharmaceuticals: We have received the following letter from Mallinckrodt. CLICK HERE to read. 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.
Fundraising & Awareness Opportunities
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.
Thanks $4 Giving is an annual November fundraiser sponsored by Chase the Cure. To participate, your family sends out donation request postcards (provided by Chase the Cure), or emails to family and friends. Proceeds sent to Chase the Cure benefit the NNPDF, Parseghian Foundation, and other research organizations. Contact Debbie Kaflowitz by Friday, October 30th for detailed participation information.
Facebook Fundraisers
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 nnpdf@nnpdf.org to let us know.
Stay Connected With Us
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