July-August 2021 News

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:

• Active Clinical Trials
• Expanded Access

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.