December 2021 Newsletter
Message from the Executive Director | 2021 Remembrances
Shop AmazonSmile | Milestones | In the Spotlight | Invisible Manners
Community Update Webinar Series | 2022 Family Conference
AllStripes NPC Research Program | Truly Global Recognition for Rare Diseases
Fundraising | Family Journey | Clinical Trial Update | Community News Updates
Membership | Comprehensive Care Centers
Emergency Hardship Program | Patient AirLift Services
Message from the Executive Director
Dear NNPDF Community,
As we approach the end of 2021, this is a perfect time to reflect on the progress we have made this year in the Niemann-Pick community and to outline some important goals for 2022. Over the past several months, the National Niemann-Pick Disease Foundation has been working in many ways to advocate on behalf of families and to raise broader awareness of the critical need for access to treatment for Niemann-Pick patients. We have partnered with industry leaders and other advocacy groups to highlight many important issues related to Niemann-Pick, including the importance of sharing data and understanding the patient journey. We have also helped community members to advocate on behalf of their loved ones in the media and on social media, helping thousands of people to better understand the impact of Niemann-Pick disease.
Recently, NNPDF Board Chair Dr. Justin Hopkin and I authored an article that was published in Nature Magazine’s Scientific Reports on the impact and burden of acid sphingomyelinase deficiency (ASMD) from a patient and caregiver perspective. This article provides many important insights that we gathered in meetings with patients and families who talked about their experience living with ASMD. We hope that the efforts by these patients will help others better understand ASMD and join in the effort to support patients and families. The data collected can also play an important role in helping researchers advance their work and supporting faster diagnosis and better treatment.
NNPDF has also been working with AllStripes, a leading patient advocacy organization, to complete the NPC Sibling Study, a landmark effort to better understand the impact of early diagnosis on families affected by NPC. New insights from this study can play an important role in supporting the need for newborn screening for NPC. We also completed another important study that focuses on insurance literacy in the Niemann-Pick community in an effort to better understand the financial burden that families face and how we can address them.
Heading into 2022, we will be looking at many new ways to expand our efforts to address critical needs for our community. We will continue to fight for broader access to data from clinical research that can be used to support future research efforts. We will also look to develop new and more effective opportunities to partner with industry leaders to find paths forward for research that can lead to new treatments. And we will work aggressively to help regulators better understand the impact of Niemann-Pick disease and how they can consider innovative and essential new approaches in their review and approval procedures for new drugs to get them to the approval finish line.
As I look forward to the New Year, I am so encouraged by bravery and resilience of the many families that work with us. I believe our community is stronger than ever. Throughout 2021, we had some signs of progress, and we faced some setbacks when promising clinical development programs and trials were either cancelled or failed to win FDA approval. In response, we saw our community join together to fight even harder to address the issues that are important to us. I am inspired by so many examples of bravery and determination. Dale Carnegie once said, “Most of the important things in the world have been accomplished by people who have kept trying when there seemed to be no hope at all.” Our community is continuing to fight for our families despite our challenges. We are closer than ever to having approved treatments in Niemann-Pick disease. And together we will make a positive difference.
I would like to thank all the members of the Niemann-Pick community and the many partners who work with us for your amazing strength, dedication, and support over this past year. All of us at NNPDF are honored to continue advocating for this community. Supporting patients and families is our mission – we are proud to deliver these services and more to the Niemann-Pick community in 2022 and beyond.
Sending you warm wishes for the holiday season.
Joslyn Crowe, MSW, MA
NNPDF Executive Director
As 2021 comes to a close, we remember not only the families of those we’ve lost, but of those that remain. Please join the NNPDF in keeping all of our families in our thoughts now and throughout the year.
Supporting One Another. Supporting Our Community.
When you shop AmazonSmile this holiday season, be sure to designate National Niemann-Pick Disease Foundation as your favorite charity! It’s an easy way to make an impact for Niemann-Pick families. Shop AmazonSmile and Amazon will donate to the NNPDF. It’s easy! Learn more and sign up. You shop. Amazon gives.
CONGRATULATIONS to Serina Heinze on her recent graduation from University of Central Florida (UCF) with a Bachelor of Science degree in Nonprofit Management and a minor in Public Administration. Serina has accepted the Volunteer Services Coordinator position at Give Kids The World Village in Kissimmee, Florida, a resort providing cost-free wish vacations to critically ill children and their families. Serina is responsible for fulfilling over 200 daily volunteer shifts to successfully operate all Give Kids The World areas.
Serina has played an integral part in supporting our NNPDF siblings’ programs and Activity Zone over the past several years, honoring the memory of her dearly loved siblings, Tyler, Katie, and Faith who were lost to NPC. Serina was also our 2019 NNPDF Cora Sterling Endurance Award recipient.
Best wishes to you Serina, and well done! We know you will make a positive difference in your new role.
Mom of Linwood, ASMD
Tell us a bit about yourself and your family…
We are the Lewis’s!! We live in beautiful North Carolina, in the town where my husband, Lyn grew up. Tarboro is a small town like you see in the movies, where everyone knows everyone. We love spending time with our family and friends. Family is everything! Linwood is a busy five-year-old. He is in Pre-K and loves it. During the summer Linwood takes swim class, music class and has participated in therapeutic horseback riding. He loves being around his friends, and his cousin Hadley. When we are home Linwood enjoys watching movies with his dog, Major, and his kitten, Kitty Boop. Linwood also enjoys listening to music, especially Allan Jackson and Rudolph the Red Nose Reindeer. Linwood is our only child and is surrounded by so much love, he is the first boy on my side of the family in two generations!
What led to and when did you receive the Niemann-Pick disease diagnosis?
At thirteen months old, in 2017, Linwood went in for routine surgery, and the anesthesiologist discovered that his liver was enlarged. From there, Linwood was admitted to our local hospital, where he had multiple tests and labs done. From Leukemia to Lymphoma, and then to metabolic diseases, we were faced with many scary possibilities. As the test results came back, and the test being performed became more specific, we began to realize that Linwood had something very rare. The last test he had done was a liver biopsy. We were sent home after this test and were told we would be called with the results. At this point, the diagnosis was a metabolic disease, but it was between a glycogen storage disease and a lipid storage disease. We were told by the doctors that we did not want it to be a lipid storage disease. Linwood received his official diagnosis at fifteen months old, and it was Niemann-Pick type B.
What were the first steps you took after diagnosis?
We received Linwood’s diagnosis by his Pediatric Ophthalmologist during an eye exam. We had previously met with his genetic specialist, Dr. Spence at UNC, and the results of the liver biopsy had not come back yet. When we met with the pediatric ophthalmologist, she noticed the “cherry-red spot” at the back of Linwood’s eyes, which is an indicator of ASMD. So we asked the doctor if that meant Linwood had Niemann-Pick. She checked Linwood’s medical chart, and the results of the Liver biopsy were there, and it confirmed that he did have Niemann-Pick. After his diagnosis, we were informed by Linwood’s genetic specialist, Dr. Spence, that there was a clinical trial in New York and we were instructed to call because Linwood might qualify. We did what he said, and two weeks later we were making travel plans to fly to New York, for the screening process for the trial. After the screening process in February of 2018, we began in the trial two months later, when Linwood was eighteen months old.
How did you learn about NNPDF?
It was not until almost a year after Linwood’s diagnosis that my Stepmom actually invited me to join the NNPDF Facebook page. Up until this point, I honestly was afraid to join any support group or Facebook page, only because I was so afraid I would see something sad or scary. Our world had been turned upside down and we were still adjusting to our new normal. Our emotions were all over the place, and I knew if I saw something sad, that I wouldn’t be able to be strong for my child. Little did I know, NNPDF was exactly what we needed. It has been a blessing.
What caused you to get involved with NNPDF initially and how has being an NNPDF member benefitted your family?
After being a member for a while, Laurie Turner reached out to me. She asked if I would be interested in participating in a few projects with the NNPDF. After seeing so many brave families share their stories, and being able to lean on their comforting words, I was so honored to share Linwood’s story.
What impact has Neimann-Pick disease had on your life?
Niemann-Pick Type B/ASMD, has changed our lives. It has honestly opened our eyes to a world that we never knew existed. Prior to Linwood’s diagnosis, we had never heard of it. Even though there have been moments of uncertainty, fear, sadness, and a lot of worries, it has made us appreciate every single day, every single milestone, and every single thing that Linwood brings to our lives. I can honestly say it has made our lives more beautiful because we truly now understand how beautiful life is. I always knew that life was precious, but it wasn’t until we were faced with the unknown that we really understood.
What are your hopes for the future for yourself and for the Niemann-Pick community?
I pray that more research continues for those with Niemann-Pick, and I pray that with that comes more treatment options. I hope that those who are new to the NNPDF community, know that they are not alone, and even though they have their very own journey, they are not alone. I hope that awareness continues and that people get inspired to become involved. This is a wonderful community! Hopes for myself and my family, are that we continue to share our story, and hopefully are able to help others with doing so.
NPUK Short Film on Invisible Conditions
NPUK’s latest short film Invisible Manners was developed to raise awareness and understanding of invisible conditions, including the rare group of conditions, Niemann-Pick disease, and the experiences of those affected. The film features voices of community members and friends of the Niemann-Pick UK and INPDA (International Niemann-Pick Disease Alliance) along with professional actors Billy Boyd, Isy Suttie, and Weruche Opia.
This short film was developed in memory of all the beloved Niemann-Pick community members sadly lost over the years, many of whom are featured in the closing section of the film. They are in our hearts always as we continue to fight for a brighter future for those affected by Niemann-Pick disease. Watch the film.
Community Update Webinar Series with IntraBio
Please join us for a webinar featuring IntraBio on Sunday, February 6th, 2022 at 2:00pm EST. IntraBio will be sharing an update on their IB1001-201 clinical trial for NPC.
Taylor Fields, Chief Product Development Officer
Tatiana Bremova-Ertl, MD, PhD, Department of Neurology, University Hospital Bern
For questions about this event contact NNPDF Family Services Manager, Laurie Turner at email@example.com. Be sure to check out all NNPDF upcoming events!
Save the Date!
Mark your calendars for July 28-31, 2022 for our 30th Annual NNPDF Family Support & Medical Conference! Join us at the Wyndham Grand in sunny Orlando, Florida as we come together to share, learn and celebrate 30 years of community!
AllStripes NPC Research Program
NNPDF is excited to partner with the Firefly Fund, Niemann-Pick Canada, the Ara Parseghian Medical Research Fund and AllStripes to create a research database that will power multiple NPC research studies. The first study will explore early diagnosis and intervention. We hope to use the data to advocate for adding NPC to newborn screening programs. To move this research forward, we are looking for families of 40 sibling pairs with NPC willing to contribute their de-identified medical records.
Learn how you can help.
In our recent LinkedIn article on the remarkable accomplishment of the United Nation’s resolution “Addressing the Challenges of Persons Living with a Rare Disease and Their Families” we call on US regulators to use their regulatory flexibility with rare diseases to ensure that no one is left behind. Read the full piece.
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.
If you have recently hosted a fundraising event, send us your photos and we’ll share them and details from your event in upcoming newsletters!
Thank You to Nicole Pruneau who recently hosted Facebook Fundraisers for the NNPDF! We truly appreciate your support.
Want to host your own Facebook Fundraiser? It’s easy! Visit facebook.com/fund/NNPDF to get started!
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 Krystal Samuelson, Mom of Willow, sharing her family story of living with NPC. Thank you, Krystal for sharing your personal story with us. Watch Krystal’s family journey.
Clinical Trial Update
Clinical trials are currently in progress to study and develop treatments for ASMD and NPC. The NNPDF posts new information regarding clinical trial updates as soon as it is received. Visit our Clinical Trials web page for up to date information on all clinical trials.
Update from Cyclo Therapeutics: The following update has been shared with the NNPDF from Cyclo Therapeutics on their TransportNPC trial, which is currently enrolling. Read complete update.
Update from Cyclo Therapeutics: Cyclo Therapeutics Appoints Caroline Hastings, M.D. as Global Principal Investigator for Ongoing TransportNPC™ Study evaluating Trappsol® Cyclo™ for the treatment of Niemann-Pick Disease. Read full press release.
Community News Updates
Update from Mandos Health: The following update has been shared with the NNPDF from Mandos Health. Read complete update.
EMA accepts regulatory submission for olipudase alfa: The European Medicines Agency (EMA) has accepted Sanofi’s regulatory submission for olipudase alfa, the first potential therapy for ASMD. Read complete update.
FDA and Duke-Margolis NPC Workshop: FDA and Duke-Margolis will host a virtual public workshop on January 24-25, 2022 on endpoint considerations to facilitate drug development for Niemann-Pick Type C. The workshop is open to the public. Learn more and register.
On behalf of the NPC community and in conjunction with partner organizations, NNPDF sent a letter to Dr. Mark Clellan regarding the January 2022 public workshop for endpoints consideration in drug development for Niemann-Pick type C. We are advocating to ensure that our families and expert clinicians voices are heard and incorporated into decision making and outcomes.
Enrolling, confirming, or updating your membership will ensure we have accurate information for you and your family. This will help us to continue to provide you with important notifications and updates from the NNPDF.
For assistance contact Laurie at firstname.lastname@example.org or call 920-542-4038
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@example.com.
Emergency Hardship Program
The NNPDF Emergency Hardship Program continues to offer assistance 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. Click here for complete details and eligibility information.
Please contact Laurie Turner, Family Services Manager at 920-542-4038 or firstname.lastname@example.org if you have any questions about this program.
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.