Newsletters
Message from the Executive Director
Dear NNPDF Community,
Summer’s winding down is often a period reflection. Subtle changes in the length of day, extra long sunsets, heatwaves and summer storms, remind us that life is in flux and that change is on the horizon. I am struck by how much has occurred in our Niemann-Pick communities over the past months of summer, reinforcing us that life is indeed a mix of hope, positivity, perseverance, resilience, frustration, and determination.
It was a pleasure to see so many community members at our 29th annual Family Support & Medical Conference this summer. Recordings of the conference sessions are available and can be found here.
Family Services Community Connections groups and Coffee & Catching Up resume in September. Weekly drop-in discussions for all Niemann-Pick community members, caregivers, and supporters are free of charge, all are welcome. Dates and registration information can be found here.
Advocacy remains at the forefront of our work. We are tackling our recent challenges with the FDA head-on. With Niemann-Pick Awareness Month coming in October, now is an opportune time to convey our messages about the need for approvals of Niemann-Pick treatments. NNPDF will continue to provide tools to amplify our voices through story-telling, legislative efforts, family data collection, and treatment-specific advocacy efforts. We always value your feedback and insights into what is most important to your family. If you didn’t have a chance to attend our break-out session How to Communicate Your Message to the Media, you can watch it here at any time.
For families exploring active clinical trial and expanded access program options click below:
We also welcome discussions with NNPDF’s Family Services Manager, Laurie Turner.
NNPDF is proud to announce that our Board Chair, Dr. Justin Hopkin, was awarded Sanofi Genzyme’s TORCH Award this summer. We are thrilled that Justin’s dedication to the Niemann-Pick community and his skillful and determined leadership of the organization was recognized with this honor. In a tribute to Justin on the occasion of his TORCH Award, we have launched a flash fundraiser to support Niemann-Pick Research. Thank you to all who donated so far. We are close to meeting our $10,000 goal to support research through NNPDF Research Fellowships! To help us reach this goal by our September 6th deadline, please consider making a donation in Justin’s honor via Facebook or through our website.
As my reflections on the summer months concludes, it’s a pleasure to receive Milestone notices from our community members. Every birthday, event, graduation, and special moment is worth sharing and recognizing. Keep them coming!
Fondly,
Joslyn Crowe, MSW, MA
NNPDF Executive Director
Supporting One Another. Supporting Our Community.
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NNPDF Family Support & Medical Conference Recap
Thank you to the over 300 participants who joined us for this year’s virtual conference weekend! Our speakers, breakout session leaders, and family members came together to learn, share, and empower our community. Our conference was kicked off with a keynote address: The Power of Patient Advocacy by Annie Kennedy, Chief of policy and Advocacy at EveryLife Foundation for Rare Diseases.
We stayed connected through the new NNPDF App, celebrated our Persevere Award and Endurance Award winners, and honored the memory of the loved ones we have lost this year.
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INPDA Biennial Meeting
Following the NNPDF Family Support & Medical Conference, the INPDA held its Biennial meeting to discuss its goals and plans for the coming year. Council members were energized by the connections to one another and the shared commitment to advancing knowledge and treatment of Niemann-Pick diseases.
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Getting to Know Your NNPDF 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 Cara Gilmore NNPDF Director at Large. We are grateful to have you on our team!
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Message from NNPDF on FDA Meeting
Originally published on 08/05/2021
As many of you may are aware, on August 3rd NNPDF together with ARPMF and INPDA held a listening session and discussion with the FDA. In this program, expert clinicians, patients and family speakers shared their perspectives on a range of important issues in the effort to find new treatments for NPC, including patient/caregiver preferences, risk tolerance, and opinions about use of the NPC clinical severity scale as a reliable and meaningful tool in clinical research. Our hope was that the FDA would hear our voices and recognize the critical need to be more flexible in reviewing drugs to treat NPC. You can find a copy of our remarks to the FDA here.
We were extremely frustrated by the FDA’s feedback and responses during the meeting. Despite hearing from many patients and parents that our community is willing to accept certain risks to continue to have access to treatments that are safe and we can see clearly are providing benefit, and despite hearing from both patients and medical experts that only 1 point of change is a meaningful measure of the NPC clinical severity scale, the FDA seems inflexible in considering new approaches in research and regulatory review that are essential to help make sure that a treatment can be available for our community as quickly as possible.
While this news is disappointing, it can and should inspire our community to work together like never before to make our voices heard. Together as organizers of the meeting, NNPDF, APMRF, and INPDA will be sending a written response to the FDA in the coming days with our perceptions of the meeting. This will be shared with the community as well.
Already NNPDF along with many other members of our community are inspired to take action in several ways, including:
- Contacting our members of Congress to seek that they investigate why the FDA is continuing to ignore the needs of the NPC community and continuing to leave patients with no approved options for treatment.
- Reaching out to the media to share our stories and to highlight the fact that FDA is ignoring our needs while patients continue to decline.
- Being more active on social media to encourage more people – especially the entire rare disease community – to join in this important effort.
We are not giving up the fight, but we need everyone’s support to win this battle for NPC patients and families here and all around the world. Let’s unite to make our voices heard and let the FDA know that they can and must take the steps we have outlined to bring available treatments to patients who desperately need them.
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Emily McGlocklin
Sister to Marian, NPC.
Tell us a bit about yourself, such as how old you are and what do you enjoy doing.
I’m Emily, I’m 8 years old, and I love gymnastics and ballet.
How old were you when you learned that Marian had Niemann Pick? What did you think? Did you have any questions?
I was four years old. I remember a lady coming over to draw my blood to see if I had Niemann-Pick Type C too, and I hated it. My mom said that I asked, “why can’t Marian walk,” and she said, “because she’s a baby,” and I said, “well this person is younger than Marian and she can walk.” I don’t really remember when I was told that Marian had NPC or if I had any questions. When Marian started getting treatment, I woke up when I thought Marian was here or mom or dad were here, but then I’d remember one of them was taking her to get her treatment, and I didn’t understand why she needed it. But after a while I kind of got used to it.
How do you talk to your friends about Niemann-Pick?
Well I never really did talk to them about it. Not that I wanted to hide it or anything, but they never asked about it. But then a little while ago my friend at school came up to me and said, “I know your sister has a disease.” I didn’t really say anything back, because I was distracted by other things, but I was thinking, “didn’t you always know that?” If my friends did ask me, I would explain to them NPC is a rare disease my sister has because she was born with it. It makes her need to work harder for it than other people need to, to use her body and brain.
Is there anything that you know about Niemann-Pick that would be helpful for other older siblings?
I would say to them, don’t worry, people will help. There are people who have been studying in this field for years, and they know what it’s like. You can ask anybody for help, people who have little siblings with NPC, and you can ask your parents. You can ask your parents why it just happened to them and not you. I always treat Marian like a sister who doesn’t have Niemann-Pick Type C – I never treat her like she always needs help, we do all the normal things sisters do, fight with each other and then make up having cookies. Whenever we drink milk, we would have silly mustaches and then say, “you have a milk mustache!” And then May May would say awful jokes, like, “how do cows say, moo” and then she says, “moo.”
Are there any programs that NNPDF could create that would be great for your age group?
Getting to know other people that have had sisters and brothers that have had NPC, and just get to ask those people “how did you handle it?” And that might be the same for you. The rules are always that the older people get to help, but the truth is, that people don’t think about the kids who are younger can do stuff. They have stronger relationships but people think they can’t help because they’re younger, but they still know a lot about it. They can help because it’s not just the older people that can help with stuff. I can help, too.
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How to Communicate
Your Message to the Media
In this highly insightful presentation, Bill Berry, Principal at Berry & Company, shares his experience and expertise in how to communicate your story with various media outlets, letting them know that they SHOULD cover your stories on the very important issue of Niemann-Pick disease.
Bill has work in public relations for more than 30 years and has represented many of the lead companies in medical devices, pharma, biotech, and has provided communication support for more than 200 clinical research programs. Bill has also managed public relations for advocacy organizations, industry, and many families who have shared their rare diseases stories.
Bill shares “The most compelling stories about diseases are always delivered by people who have a personal experience – a family member or patients themselves – and it’s the way to get most people to understand your issue and maybe even to do some work for you, figuring out what we want them to do, how we want them to help us.”
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Justin Hopkin Receives TORCH Award
Dr. Justin Hopkin, NNPDF’s Board Chair was honored with Sanofi Genzyme’s annual TORCH Award on Thursday, August 26th. Justin has been a champion in representing and advancing the needs of the entire Niemann-Pick community. He has gone above and beyond while facing his own personal experiences and challenges with his son Garrett (ASMD). It is his compassion, dedication, determination, and commitment to the entire Niemann-Pick community that we are honored to have him advocating for our cause.
Sanofi Genzyme’s TORCH Award recognizes someone who has made a significant contribution to either a Lysosomal Storage Disease community or to a Sanofi Genzyme research and development area of focus to educate, empower, advance, or connect patients.
In honor of Justin receiving the TORCH Award, we aim to raise $10,000 by September 6th for Niemann-Pick research. We are nearly there, with only $2,500 to go! Donate via our website or through our Facebook fundraiser.
Please share this fundraiser on your own social media and use #HopkinTorchesNPD #nnpdf and tag us at @NNPDF.
If you have donated, THANK YOU! If you can’t donate or already have, please consider sharing this fundraiser with others to spread awareness of Niemann-Pick Disease and all the great work accomplished by our Board Chair Justin Hopkin! He has led us in so many ways and we want to honor him the best way we know how!
With your support, we will continue to work towards Niemann-Pick disease treatments!
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Milestones
Bradley Kliemann, 23, ASMD, recently graduated Magna Cum Laude from Northern Arizona University with a Bachelor of Science degree in Parks & Recreation Management and a minor in Geographic Information Systems. He is currently completing his final internship with Colorado Parks & Wildlife and has plans for a career as a Park Ranger with the National Park Service. Bradley is the son of Dr. Jacqueline Kliemann and James Kliemann and brother of Melissa Kliemann, Esq.
Congratulations, Bradley!
Have a special milestone to share? Send us the details to [email protected] and we’ll publish it in an upcoming Newsletter!
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Community Connections and Coffee & Catching Up are back!
Please join us as we connect and support one another virtually. Join us Tuesdays at 11am EST for Coffee & Catching Up. We are also hosting Community connections – at various times throughout the fall- see September schedule. Join us as we connect, share and support one another. Click here for registration.
Questions? Please contact Laurie Turner, Family Services Manager at [email protected] or 920-542-4038.
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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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Taking the Lead with ASMD:
Navigating the Healthcare System
Please join Sanofi Genzyme at their educational event Taking the Lead with ASMD: Navigating the Healthcare System taking place on September 14th or 16th.
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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. Join other NPC patients and families on AllStripes to contribute to multiple research efforts.
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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 Ashley Lewis as she shares about Linwood’s journey with ASMD. Thank you, Ashley for sharing your heartfelt and personal story with us. Watch Ashley’s family journey.
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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.
For enrollment assistance contact Laurie at [email protected] or call 603-413-8707
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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.
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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 Orphazyme:
Orphazyme has announced the publication of its results from the Phase 2/3 trial of arimoclomol in Niemann-Pick disease type C in the Journal of Inherited Metabolic Disease. Read more.
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Community News Update
Update from IntraBio:
IntraBio reports statistically significant and clinically meaningful improvements in the use of IB1001 for treatment of GM2 Gangliosidosi. Multinational clinical trial is the first successful clinical trial for GM2 Gangliosidosis, favorable safety and efficacy data consistent with previously announced IB1001 clinical trial results for NPC. Read more.
Announcement from Mandos LLC:
We’ve received the following information on Mandos LLC’s acquisition of Adrabetadex. Read here.
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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.
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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. Click here to view current and past fundraising and awareness events.
Have you recently hosted an NNPDF fundraiser?
Send us your photos and we’ll share them and details from your event in upcoming newsletters!
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US families have faced several challenges over the past few months in NPC. Uncertainly over the sale of adrabetadex to Mandos LLC loomed in bankruptcy court, access barriers placed on its US expanded access program, and the recent FDA decision of a Complete Response Letter for Arimoclomol have made our families’ voices more important than ever. In early April, NNPDF held an FDA-requested Listening Session on Niemann-Pick disease. In one short hour, our leadership, including clinical leaders and patient-experts, conveyed the breadth of challenges that we are facing as an ultra-rare disease and voiced our unwavering support for all the experimental therapies in our pipeline. We stressed the urgency of access to safe and effective therapies for our patients now – a reminder to the FDA that our patients don’t have the luxury of waiting years more for an approved treatment in the US. Following this event, petitions have been signed in support of specific therapies, letters have been sent to FDA members, and NNPDF formed its new 
NNPDF is forming a new Advocacy Committee for community members who want to directly help with input and planning of advocacy initiatives. Your voice is important to getting our message out that our Niemann-Pick community needs approved medicines now. Contact 
Joele Ruppert and Joseph Colton are a much-loved daughter and son, both diagnosed with ASMD, whose parents, Jeff and Kara Ruppert and James and Alexandra Colton, demonstrated compassion, courage, selflessness, and perseverance from the beginning to the end of their children’s journeys. The words and deeds of these two families proved inspirational to another family of a child diagnosed with ASMD, and indeed, to all who knew Joele and Joseph. This scholarship is in honor of the lives of these two cherished children and their parents who embodied the highest values of the human spirit.
The Joele Ruppert and Joseph Colton ASMD Scholarship fund began in August 2020 when Evren Ayik, at that time a graduating high school senior, was awarded the Sanofi Genzyme TORCH Award for his work in advocacy for individuals and families affected by ASMD. The NNPDF, in gracious acknowledgement of Evren’s wishes to endow a scholarship for other students with ASMD, supported his proposal for the financial contribution that is offered to the TORCH Award recipient’s chosen non-profit organization serving the rare disease community. In naming the scholarship, Evren recognized that many years earlier, he and his own family were also encouraged and inspired by the Ruppert and Colton families, and he wished to honor both of the children who lived with ASMD, Joele and Joseph, and their respective parents, all of whom are exceptional people.
JP Honsinger was diagnosed in 5th grade with NPC. On June 25th he graduated from high school with his class of 800 students! JP will attend the Adult Transition program in the fall for the next three years. Congratulations JP!
Kaila Guy, ASMD, was the Xcel Platinum Florida state gymnastics champion on Floor and came in 2nd in the all around. Kaila qualified for regionals in Atlanta, and placed 3rd on floor and in the all around. Congratulations Kaila!
Following a review of our Clinician Reported Database involved clinicians, researchers, industry representatives, the INPDR are pleased to report that we have completed the NPC database amendment with ASMD to follow soon after. The new database will be rolled out over the coming weeks to our 18 existing sites and will now include data on adverse events and co-morbidity. There are a further 47 sites that are currently in the pipeline for onboarding to the INPDR with the potential to capture data for more than 1000 patients internationally. While onboarding and recruitment has been impacted by the COVID pandemic, the registry has made important changes to accelerate recruitment. This includes facilitating postal consent so patients and families do not need to attend clinic to decide to take part in the CRD. The registry has also translated our documents into ten languages which addresses another significant barrier to registry recruitment.
NNPDF has been asked to share the following ASMD market research interview opportunity. Evidera is seeking to conduct phone interviews with adults with ASMD to better understand the ASMD journey.
The ASMD Accelerate study continues to enroll both patients with Infantile Neurovisceral ASMD (NPA) and Chronic Neurovisceral ASMD (NPA/B).
NNPDF, APRMF, NPCanada and Firefly Fund Seek Your Participation in a first-of-its-kind Newborn Screening Research Study
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 
Adrabetadex Update:
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. 
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.
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.
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. 
Dear NNPDF Community,
Deadline for nominations is May 31st. 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. 
This month, May 2021, for the very first time ever, a newborn was screened for Niemann-Pick Type C. 
My name is Lori McKenna Gorski and I am delighted to have joined Cyclo Therapeutics to oversee Patient Advocacy and Engagement. Most of my career has been focused on working in biotechnology, and particularly in rare diseases. I spent many years at Genzyme (now Sanofi Genzyme) in roles in both communications and patient advocacy, including on the Niemann-Pick B/ASMD program. I got to know your global community before the clinical trial commenced, and through such disease awareness programs like Expression of Hope.
We are continuing to request that ALL current and interested community members 
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 
Mallinckrodt Pharmaceuticals has reached an agreement to divest and transfer the Investigational New Drug (IND) application for experimental drug adrabetadex (VTS-270) to Mandos, LLC. 
The ASMD Accelerate study continues to enroll both patients with Infantile Neurovisceral ASMD (NPA) and Chronic Neurovisceral ASMD (NPA/B).
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.
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.
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.
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. 
Dear NNPDF Community,
NNPDF hosted an FDA listening session on Niemann- Pick Disease on Friday, April 9th. The listening session was a platform for the NNPDF to present to the FDA/CDER and to share the concerns and priorities from the entire Niemann-Pick disease community. To review the NNPDF FDA Listening Session Summary Report, please 
Thank you to all that have recently updated their membership. 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.
The Newborn Screening Working Group will hold its first virtual meeting in 2021 on Friday May 14th at 4pm ET. If you are interested in learning more about the efforts of the Newborn Screening working group and the progress that is being made towards realizing the goal of having NPC added to the RUSP (Recommended Uniform Screening Panel), or if you would like to join this important advocacy and research project, please contact Pam Andrews at Firefly Fund (
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. 
HEY SUPERHEROES!
NNPDF Community,
Wylder Nation Foundation has recently partnered with PicnicHealth to launch the ASMD Accelerate study as a way for families to easily contribute to advancing research for ASMD. 
Plans are well under way for the NNPDF-INPDA Family Support & Medical Virtual Conference taking place July 29 – August 1st! Mark your calendars and watch for registration details coming soon! In the meantime, remember to download the 
When did you receive the girls’ diagnosis? What led to diagnosis?
What caused you to get involved with NNPDF initially and how has being an NNPDF member benefited your family?
Thank you to everyone who contacted us with feedback for the INPDR patient, families and friends’ newsletter. There’s still time to share your opinions so please get in touch through email at 
“
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.
Rare Disease Day Facebook Profile
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.
WORLDSymposium 2021
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. 
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 
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. 
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.
NORD and partners recently hosted a 
By Pam Crowley Andrews, Executive Director, Firefly Fund and Allison Rosen, 3D Communications for Firefly Fund
Several NNPDF Community members had help in making their holidays a little brighter thanks to an anonymous special donor. Our donor family wished to help ease the burden of Holiday stress, knowing that living with NPD can be difficult and 2020 came with its own set of difficulties. THANK YOU to our donor family – “…you all made us very happy with your act of love.”
When did you learn about Garrett’s diagnosis? What were your initial thoughts and concerns?
What have you been able to do in your role as a grandparent?
by Miranda Feinberg, NNPDF Intern
One way that Serina focuses on the way grief affects holidays or special occasions is how yearly traditions become disrupted or hollowed. What once might have been enjoyed every year and associated with specific holidays no longer feels special. The tradition is no longer the same; something is missing, someone is gone. Traditions and routines are so ingrained in our everyday lives, so when some part of them is changed and disrupted, the tradition itself becomes troublesome and harmful to our everyday lives. Furthermore, the special-ness of holidays and the magic that is tied to them can conflate the importance of traditions in a way that makes the loss of such traditions even more distressing. Serina uses Christmas as an example of a special occasion with many long-held traditions that can be irrevocably affected by loss. She describes how, after loss, the winter snow transformed from exciting and magical to gloomy and cold, how putting up the Christmas tree became a chore, and how holiday parties became something to be avoided rather than attended.
The loss of a loved one is felt deeply at those times where there was once so much happiness. The loss of that person becomes tied to the loss of those traditions. The simultaneous feelings of grief and sadness mixed with the knowledge that everyone around you is still enjoying those once-special holidays can be very upsetting. Serina acknowledges all of these negative holiday transformations that are born of loss, but she also shares ways that she has begun to move forward. One suggestion she has is to make new traditions. Holding onto the past, resolutely unable to move forward, can immortalize the pain and prevent any healing that could happen during those holidays. Serina suggests using new traditions as a way to remember and move forward; as she says, “it won’t be the same and it never will be, but start a tradition that brings the memory of your loved one back to the holiday season.”
Congratulations to Denise Sousa, Becky McGuire, and Daniel Worley, our top 3 winners! Thank you to all who participated.
Kaila Guy, ASMD
We are looking for your help! Connecting with others by sharing YOUR story is how our community can support one another. Will you share your story on what NNPDF means to you? These stories will be included in our upcoming newsletters, shared on our social pages and with some of our partners. Send your stories, along with a photo to 
The Family Journeys Blog posts have been updated for the month of November. Follow our 4 NNPDF families from across the country as their share monthly updates to bring 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. 
Advice From a Niemann-Pick disease Mom: Avoid Google Taylor Sabky explains how she came to learn about this devastating disease. 
Advocating for ASMD: A Rare Disease Story Taylor Sabky shares her journey in learning about ASMD. 
To Help and Be Helped Taylor Sabky shares how helping can bring healing. 
Firefly Fund Chat: NNPDF Pam and Chris Andrews have a conversation with NNPDF Executive Director Joslyn Crowe and Board Chair Justin Hopkin about their journeys to NNPDF, the resources NNPDF provides, and what is on the horizon. 
Teacher’s mission: Defeat disease that cost her son his life By sharing Purnell’s story, Taylor Sabky puts a human side to ASMD. 
Thank you to all who joined for the ASMD Clinical Update webinar. If you were unable to join us or would like to watch again, the recording is now available. 
HEY SUPERHEROES!
Last month we were hoping to share some exciting news about recruitment of a US-based Clinical Research Associate as part of a project backed by the Ara Parseghian Medical Research Fund, so we are delighted to welcome Lakeisha Simmons to role.
Now is your chance to get awesome NNPDF gear!
Doctor, Parent, and Rare Disease Advocate Dr. Justin Hopkin, NNPDF Board Chair, shares his family’s’ story with Patient Worthy. 
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. 
NNPDF’s Executive Director, Joslyn Crowe, spoke to CheckRare about How Families Cope with a New Rare Disease Diagnosis. 
Living Beyond My Rare Disease Evren Ayik descibes life living with ASMD in a recent article published by The Mighty. 
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. 
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. 
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. 
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.
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.
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.
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 
Mallinckrodt Pharmaceuticals: We have received the following letter from Mallinckrodt. 
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.
