June 2020 News
Message from the Executive Director
NNPDF Family Conference | NNPDF Conference & Community App
NNPDF Pyramid Challenge 2020 | NNPDF Board Member Updates
ASMD Survey Opportunity | Newborn Screening | In the Spotlight
INPDR Update | NPC Patient Handbooks | ASMD Update
Clinical Trial Updates | Fundraising & Awareness Events
Upcoming Events | Stay Connected With Us
The past few months presented unexpected challenges for our community. COVID19 forced us to make changes to our daily life, learn new phrases like “social distancing”, and be even more vigilant about protecting our loved one’s health. At NNPDF we held several webinars as part of our Community Update Webinar Series including clinical updates by Mallinckrodt Pharmaceuticals and Orphazyme, as well as a program on “SelfCare in times of crisis and stress”.
We quickly added more family services program content to our weekly schedule to meet the growing needs of our families. Small group discussions have been held by Zoom to provide a space for families to gather, share, and decompress.
Perhaps the biggest change we needed to make was to change our Family Support & Medical Conference to a virtual conference event. We will continue to provide high-quality educational and clinical sessions but this year we will all participate from our own homes. The conference is only a few weeks away – I hope that you’re planning to join us and take part in the exciting interactive events we have planned from July 10-12th. We are excited to launch our new NNPDF app at the conference! Download it today for updated content throughout the year.
We are pleased to share that the International Niemann-Pick Disease Registry (INPDR) implementation is progressing in the US. Our clinicians are ready and we are continuing to educate families on the importance and ease of registering their loved ones. As the US member organization of the International Niemann-Pick Disease Alliance, NNPDF is continuing to play an important lead role in supporting the registry in the US.
We are also launching a national survey designed to understand challenges related to accessing treatments and insurance coverage in the US. The will be the most comprehensive survey of the Niemann-Pick community to date and will yield us valuable data to share with opinion leaders and decision makers in the regulatory field as well as those responsible for payment, insurance, and more. We will publish the results and learning from our survey at the end of 2020.
Our Board of Directors has also changed recently. We thank Lisa Chavez, Anne OConnor-Smith, and Darrile Papier for their dedication and service to NNPDF. Their tireless work has brought our organization to a new level of high quality family support and advocacy. We are proud to welcome our incoming Board members to our team: Kara Ayik, Anthony Leoni, Paul Merrigan, and Michael Smith. Send them a welcome if you’d like!
Joslyn Crowe, MSW, MA
NNPDF Executive Director
Registration is free of charge for all families. Our virtual conference will be interactive and engaging with the latest in clinical updates, educational sessions from top speakers, an important keynote address from the U.S. Food and Drug Administration (FDA), plus much more!
The NNPDF Conference & Community app is now live! Download it today to your smartphone or desktop/laptop! This interactive tool will be used during the Family Support & Medical Conference and we’ll continue to add programming and content throughout the year.
MOBILE APP HIGHLIGHTS:
GET INSTANT UPDATES
Get real-time updates and announcements throughout the Conference and throughout the year.
CREATE YOUR OWN AGENDA
Create your own schedule with the sessions you want to attend.
MAKE CONNECTIONS ON THE SOCIAL WALLS
Post photos, ask questions, and interact with other participants.
MEET OUR SPONSORS
Learn and interact with our sponsors.
After the app is installed, enter your email address and create your profile.
Tap the NNPDF 2020 Family Support & Medical Conference.
Tap JOIN and use the event code (sent after you register for the Conference). Not yet registered? Click here!
Don’t have a smartphone? No problem! To access the read-only version on a desktop/laptop for an ideal live stream viewing experience, use our WEB MOBILE APP!
Thank you to those that have already shared their creations! Click here to see more fantastic pyramids. Remember to challenge your friends to “Do or Donate $20” to the NNPDF to help support Niemann-Pick families. Tag #NNPDFPyramidChallenge2020 and @NNPDF.
CONGRATULATIONS to our Pyramid Challenge drawing winners: Jennifer Levin, April Clemenza and Heather Taillefer who each received a $50 Amazon gift card!
Supporting One Another. Supporting Our Community.
Our heartfelt THANK YOU to Lisa Chavez, Anne OConnor Smith, and Darrile Papier as their terms come to a close. Your dedication, service, and commitment to the National Niemann-Pick Disease Foundation and the families it supports has been extraordinary.
Welcome Incoming Board Members…
We are proud to welcome our incoming Board members to our team: Kara Ayik, Anthony Leoni, Paul Merrigan, and Michael Smith. Learn more about them here.
Pictured above are 2020 BOD members with Joslyn Crowe, Executive Director, Laurie Turner, Family Services Manager, and Marla Bobowick, Leadership Development Consultant.
RTI Health Solutions is recruiting certain types of patients with Niemann-Pick ASMD, type A/B or type B. Click here to learn more about this survey or to find out if you are eligible contact Andrew Fox at RTI Health Solutions at 919-541-1274 or firstname.lastname@example.org.
Extra Extra: Read All About Parallels Between Testing for COVID-19 and Newborn Screening Testing for NPC
Test, Test, Test. It’s the mantra we’ve been hearing for months to help the United States get a handle on the spread of COVID-19. Leaders of the NPC community’s newborn screening initiative heard the messages, too and wondered, “how are the calls for testing for the coronavirus different from testing for NPC?” Turns out, there are a lot of parallels. 1. Like the power testing affords us as we confront COVID-19, knowledge can also empower families in the newborn screening environment; 2. As with COVID-19 testing, we need nationwide and consistent newborn screening; 3. Just like with COVID-19, rare diseases often go undetected at first. Early testing is the only way to know sooner and take action; 4. Just as we’re learning with COVID-19, we need to build the testing capacity of our nation’s laboratories so we can better manage diseases earlier; and 5. Like COVID-19 where knowing sooner means a person can take immediate steps to “stop the spread,” knowing sooner with rare diseases means parents can make informed decisions regarding interventions.
The insights, authored by Firefly Fund’s NPC Newborn Screening Initiative leaders, Pam Andrews and Allison May Rosen were published by Rare Daily. Please read the article and help spread the word. Thank you!
Cora Sterling is a friend to Niemann-Pick community, supporter, volunteer, host of “NNPDF StoryTime with Cora”, and innovator in the Activity Zone at the annual Family Support & Medical Conference. She is the namesake of the NNPDF Cora Sterling Endurance Award which is awarded 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.
Tell us a bit about yourself, such as where do you live and what do you enjoy doing.
I grew up in a small town in central Minnesota, got a degree in German from Carleton College and a degree in teaching English as a Second Language and Bilingual Education from Georgetown University. I have been interested in other cultures and foreign languages since I was young. I studied German in Germany, Spanish in Mexico and Costa Rica, and Japanese in Tokyo. I am married to Bill and we have two daughters and a son, a son-in-law, a daughter-in-law and four granddaughters. Bill and I both come from large families, and spending time with family is a priority for us. I love traveling, eating out, going to Broadway shows, reading, watching movies, singing and being near water. I have always worked with children and am very interested in all issues related to improving education. My friends know that I like being a little out-of-the-box, dressing in costumes, using puppets and doing whatever I can to engage kids in an activity.
What caused you to get involved in the Niemann-Pick community? How did you learn about NNPDF?
Debbie Kaflowitz and I taught at the same elementary school in Summit, NJ and through her I became involved with NNPDF. When I met Debbie, her daughter Rachael had not been diagnosed with NPC, but her cognitive abilities were declining. When Debbie and her husband Steve were going through the agonizing process of figuring out Rachael’s “medical mystery”, the only thing I could offer was to be a friend to Rachael. One of Debbie’s concerns was that Rachael had no peer group or friends to hang out with, so I tried to find things to do with Rachael once in a while. I couldn’t really be a peer, but I could at least offer a bit of fun. Rachael really liked my puppets and that’s what lead to my involvement with the Family Conference. One year, Debbie suggested that I go to the conference and use my creativity and puppets to help in the Activity Zone. I was finally able to go to the first Chicago conference. I volunteered to help in the Activity Zone, which put me in contact with Missy and Jim Ward. They encouraged me to come with whatever creative activities I wanted to do. We talked about the possibility of an art show and a
final show for parents. I learned SO MUCH at that first conference. Missy and Jim helped me understand better the needs of the kids. By observing the more experienced volunteers, especially the siblings, I learned better ways of interacting and matching activities to abilities
How have you participated at the NNPDF Conference(s)?
What did I bring to the table? I brought my “birthday party” skills – a fun theme for the weekend, room decorations, puppets for everyone and crafts and games related to the theme. I brought my love of fun, my amateur puppet skills, my willingness to be silly, my flexible thinking, my teaching skills and my ability to corral a group into performing a silly skit.
What has prompted you to continue volunteering the NNPDF Conference?
I have continued to volunteer at every conference since that first one. Helping at the conference is a priority for my summer. Why? Mainly I do it for the kids and young adults. I love doing what I can to make them smile. I love seeing them in the final show and dancing with them. Their lives are not easy, and I want to do my part to bring them just a little bit of happiness. But I’m also committed to the conference because I have met the most amazing people there. I cannot fathom the pain Niemann-Pick families have endured in their lives, but I can appreciate and learn from their resilience, their willingness to share their journey with others, their commitment to finding a cure and the incredible way they care for each other. Plus, even with loss that cannot be imagined, the people I have met are able to laugh, dance, applaud their children and have fun.
Rachael Kaflowitz passed away on October 25, 2018. She was the impetus for my involvement with NNPDF and in her name I will continue dressing up, acting silly, using puppets and having fun in the Activity Zone at future NNPDF family conferences.
We are really looking forward to the NNPDF Family Support & Medical Conference, especially the opportunity to present on Sunday, July 12.
It will be a really informative webinar, even for those who think they know the INPDR!
We’ve been working so hard over the last year to develop and ensure sustainability of the registry – a lot has changed so there is much to bring you up to speed on.
We will be looking at some recent changes, what the data can do, why we need you and the next steps for the INPDR. No question is a bad question so we would love to hear from you with anything you don’t understand or need answering.
The INPDR are delighted to learn that we have had an application for funding from the Ara Parseghian Medical Research Fund accepted. This presents an opportunity to extend our work in the US and, more than anything, we’d like patients and their families to be instrumental in the success of the Registry – of course, we will be working very closely with the NNPDF, our partner leading the Registry initiative in the US. So please consider sharing your data either through your clinician into the Clinician Reported Database or directly through the Patient Reported Database.
Don’t forget you can sign up to the Patient Reported Database through the website and begin completing questionnaires straight away. The real-life experience of patients and their families is just as vital to progress as clinical data. We want to make sure patients are empowered to make care and treatment decisions and that future research considers quality of life.
We hope you have been following our campaign through our social media channels and that it is going some way to demystify the INPDR.
It is understandable that sharing your data may be low on your list of priorities, but we hope to show families and others in the Niemann-Pick Disease community that the more data entered into the registry, the richer that data will be and the useful and impactful it can be for the whole community; from patients to researchers. Some of the progress may be felt in the short term, others will form part of a further-reaching lasting legacy.
Sharing data as part of the Patient Reported Database is something you can do now from the comfort of your own home to start making difference for your family and others.
Our door is always open to answer any questions and support the sign up process, and we are ever-grateful for the support of the team at the NNPDF, who are a key point of contact for the strong US Niemann-Pick community.
Patient handbooks are available to NPC patients and their families. This fillable electronic booklet is a place for you to record and print out important health and information to have available in case of an emergency. Click here to get your handbook.
Sanofi Genzyme COVID-19 Study FAQ: In response to questions we have received from you about challenges faced in trial participation during COVID19, Sanofi Genzyme has provided the following information. Click here for complete information.
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.
Updates from Cyclo Therapeutics:
Cyclo Therapeutics’ Clinical Data Webinar Recording is now available on company website. Click here for complete announcement.
Updates from Orphazyme:
A COVID-19 update from Orphazyme on its Early Access Program for Niemann-Pick Disease Type C. Click here for complete announcement.
Orphazyme Initiates Rolling Submission of New Drug Application for arimoclomol with US FDA in Niemann-Pick disease Type C. Click here for complete announcement.
Contributions through fundraising by NNPDF members, families and friends are used to provide services and information to individuals and families affected by NPD, as well as supporting research into finding treatments. Please continue to host and support NPD fundraisers. Awareness Events promote awareness to the general public about Niemann-Pick Disease. Click here to view current and past fundraising and awareness events.
THANK YOU to those of you who have already hosted a Facebook Fundraiser! Are you interested in hosting? It is a great opportunity to raise awareness and funds for the NNPDF. If you are hosting a Facebook fundraiser please email the NNPDF Central Office at email@example.com to let us know.
Jamberry Niemann-Pick Disease Nail Wraps
Show your support in the fight against Niemann-Pick Disease with these custom Jamberry nail wraps. 30% of all sales will be donated to the National Niemann-Pick Disease Foundation for family support services. Click here for ordering details. Available year round.
Have you hosted a fundraiser for NNPDF recently?
Send us your photos and we’ll share them and details from your event in upcoming newsletters!
Check out our Upcoming Events page at nnpdf.org/news-media/upcoming-events/.
NNPDF Family Advisory Working Groups
June 28 | 1:00 – 3:30pm EST Virtual Event
NNPDF Family Support & Medical Conference
July 10-12, 2020 | Virtual Conference Click here to register!
Community Update Webinar Series featuring Newborn Screening and the “Screen Plus” Program
Tuesday, October 13, 2020 | 8:00 pm EST, 5:00 pm PST
Click here to register!
A quick reminder that if you are not receiving our NNPDF monthly newsletter via email or have recently changed your address or email, please click here to join us or to update your information.