July-August 2021 News
Message from the Executive Director | Family Support & Medical Conference
INPDA Biennial Meeting | Getting to Know Your NNPDF Board
Message from NNPDF on FDA Meeting | Spotlight
How to Communicate Your Message to the Media | Justin Hopkin TORCH Award
Milestones | Community Connections and Coffee & Catching Up
NPC Patient & Caregiver Experience Survey | Taking the Lead with ASMD
AllStripes NPC Sibling Survey | Family Journey | Membership Update | ASMD Accelerate Study
Clinical Trial Update | Community News Update | Comprehensive Care Centers
Emergency Hardship Program | Patient AirLift Services | Fundraising
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!
Joslyn Crowe, MSW, MA
NNPDF Executive Director
Supporting One Another. Supporting Our Community.
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.
Supporting One Another. Supporting Our Community.
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.
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!
Pictured above is Alec Koujaian as he prepares to share his statement to the FDA on August 3rd. Thank you for sharing your personal story Alec.
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.
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.
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.”
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!
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.
Have a special milestone to share? Send us the details to firstname.lastname@example.org and we’ll publish it in an upcoming Newsletter!
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@example.com or 920-542-4038.
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.
Please join Sanofi Genzyme at their educational event Taking the Lead with ASMD: Navigating the Healthcare System taking place on September 14th or 16th.
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.
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.
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 firstname.lastname@example.org or call 603-413-8707
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.
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.
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.
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@example.com.
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 the 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.
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.
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!