Message from the Executive Director
Dear NNPDF Friends and Family,
The first month of 2021 brought hope to some of our families yet fear and uncertainty to others in the Niemann-Pick community, highlighting the urgency our Niemann-Pick community faces for access to therapies. Now more than ever we need an FDA pathway that takes the unique realties of rare disease populations into account for regulatory approval and we need to ensure access to and affordability of off-label and supportive therapies benefitting our Niemann-Pick patients. NNPDF is here for all families and you are never alone on your journey. As your national patient organization, we are working tirelessly to represent the patient voice in the regulatory process and will continue to fight to bring treatments for ASMD and NPC. Remember together our voice is stronger!
If you have not had the chance to do so yet please join us for Coffee and Catching Up (informal drop-in support sessions). Weekly Coffee and Catching Up chats are held Mondays at 11:00am EST, and please watch for special Community Connections chats that are scheduled as needed.
Family Services continues to grow and we are pleased to launch the first Navigating Together small group support sessions for bereaved families. Contact Laurie Turner, Family Services Manager for more details at firstname.lastname@example.org.
Thanks to all that participated in our NNPDF Challenges of Access & Insurance Survey. Over 79 families helped by sharing information about their burdens of insurance. This information is valuable to our community in many ways and also helps our industry partners as they move towards treatment approvals. NNPDF will be presenting a poster at the WORLDSymposium conference, held virtually in February (visit worldsymposia.org for details) and we will share the results publicly with a Community Update Webinar and publications.
In early February, you will be asked to update your membership enrollment information with NNPDF. This helps ensure you will receive our up-to-date news and information. Don’t miss out!
Rare Disease Day is February 28th! This day promotes raising awareness of rare diseases worldwide and their impact on patients’ lives. Watch for upcoming details on how you can participate in raising awareness of Niemann-Pick disease!
Joslyn Crowe, MSW, MA
NNPDF Executive Director
Navigating Together: Support for all phases of Niemann-Pick disease
NNPDF Family Services is launching the new Navigating Together: Legacy Families program for our bereaved families beginning February 16th. Our program will include small group sessions for bereavement, grief, and loss (via Zoom online platform) led by Shoshanna Hecht, Licensed Clinical Social Worker, Executive + Personal Coach.
Sessions are at no cost to NNPDF community members and will require an 8-session commitment. Sessions will be held on Tuesdays at 8:00pm EST, from February 16 through April 6, 2021. Navigating Together: Legacy Families is for ASMD and NPC families that have lost a loved one.
If you would like to apply to participate in Navigating Together: Legacy Families sessions, please complete the application here. Space is limited so register early.
If you have any questions or would like more information about Navigating Together, please contact Laurie Turner, Family Services Manager at email@example.com or 603-413-8707.
Coffee & Catching Up
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. Click here to register.
If you have any questions please contact Laurie Turner, Family Services Manager at firstname.lastname@example.org or 603-413-8707.
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@example.com. 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.
NORD Addresses Rare Disease Community on COVID-19 Vaccines
NORD and partners recently hosted a COVID-19 Vaccines Update webinar for the rare disease community in an effort to provide information to rare disease patients and caregivers on the COVID-19 vaccines. The webinar discussed the expedited clinical trials that resulted in FDA’s issuing EUAs for the Pfizer-BioNTech and Moderna vaccines, the vaccines’ high rates of effectiveness, as well as the imminent arrival of more vaccines. The webinar is now available for on-demand video access, click here.
By Pam Crowley Andrews, Executive Director, Firefly Fund and Allison Rosen, 3D Communications for Firefly Fund
We are getting closer to the day when the first baby will be enrolled into the ScreenPlus newborn screening pilot program in New York state. The entire Niemann-Pick disease community eagerly awaits what we will learn about the possibilities of better outcomes for NPC and ASMD when we can diagnose and intervene earlier – possibly even from birth. This novel pilot study is being led by Melissa Wasserstein, MD, of Montefiore Hospital. On December 31st, the Austin American-Statesman published a feature article about Firefly Fund’s work in newborn screening and highlighted the importance of Dr. Wasserstein’s study for our community. Please read and share! Austin family helping to get NPC1 disorder onto newborn screening test.
Help for the Holidays 2020
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.”
Firstly, the INPDR would like to wish all our friends and families in the NNPDF community a happy New Year. We hope 2021 brings an upturn in the global response to the COVID pandemic and as such, some let up for the Niemann-Pick community. We also look forward to your renewed support as we continue to grow and implement many of the changes that we outlined in our Strategic Development Plan, released at the end of last year.
What this means for Niemann-Pick patients and families is that 2021 will ensure the INPDR is a robust and quality source for vital research. Of course, so much of the progress we can make for the Niemann-Pick community depends on recruiting patients and clinical sites to share their data with the Registry. The INPDR model of disease-specific global registry offers benefits for now and future generations within the Niemann-Pick community. Therefore, while we are doing all we can to make sure your registry meets appropriate regulations and standards, we urge patients and their families to contribute to the INPDR in whatever way they can.
If you are already sharing clinician reported data, we thank you – you are helping to make progress for better diagnosis, treatment and care for the Niemann-Pick community. Did you know you can also separately self-enrol and take part in the patient reported database? This is simple to do through our website www.inpdr.org. Even if you follow, like or comment on our social media channels, it helps us to reach other members in the Niemann-Pick community.
This year, we will be launching our first newsletters; one aimed at professionals and one aimed at patients, their families and supporters. We would be really interested to hear what sort of things you would like to hear about in our patients, families and supporter’s newsletter.
Please feel free to get in touch through email, our website or social media channels with thoughts and ideas – we’d like to make sure the newsletter helps the community understand a little bit more about the power of patient data in the INPDR.
You can also sign up to receive our quarterly newsletter by clicking here.
In the Spotlight
Grandmother of Garrett Hopkin, ASMD
Mother of Justin Hopkin, NNPDF Board Chair
Tell us a bit about yourself, such as where do you live and what do you enjoy doing.
I am the 65-year-old grandmother and #1 fan of my amazing family. I was previously a school secretary and a legal secretary but have been retired for three years. I live at the base of the Wind River Mountains in Lander, Wyoming. My husband Terry, retired teacher and coach, and I raised our sons, Justin and Lance, in Wyoming. I embrace our mountains and wide-open spaces (especially this year!) by hiking, camping, skiing, and biking. I also relish going on adventures with my kids and grandkids, and have been all over the country with them.
When did you learn about Garrett’s diagnosis? What were your initial thoughts and concerns?
My husband and I learned of Garrett’s diagnosis in June of 2011. Garrett was a little over one year old. Justin explained the nature of the disease to us, that it was genetic, that there were different types, and the outcomes for each. We knew that Garrett was not well, but we knew nothing about Niemann-Pick. I recall my mind was in a fog, and I was certain modern medicine had a cure for whatever this disease was. We just had to find the physicians and hospital that could treat it. Following that, I was fairly certain that Justin, Courtney, Avery, Grady and Garrett would have to leave Lander to seek medical treatment for Garrett. It was a double whammy.
What were the first steps you took after his diagnosis?
Initially, I buried my head in the sand. I hoped, prayed, wished on stars that it was a mistake or would somehow just go away. Once I did accept Garrett’s diagnosis, the most important thing I did was get tested for Niemann-Pick and encourage my family members to do the same. This data is critical. I became more knowledgeable about Niemann-Pick, I asked questions, researched, and tried to be involved and as supportive as possible for my family.
What have you been able to do in your role as a grandparent?
Eventually, our “Hopkin 5” did move to New York for Garrett’s treatment. I was fortunate enough to be able to go to one of Garrett’s infusions at Mount Sinai and witness firsthand the entire process. For me, seeing is believing. From hotel staff to nurses, everyone there treated Garrett like a little celebrity… much as he was in Lander. That was my turning point. I knew Garrett was where he needed to be. I then joined NNPDF, attended Family Conferences and webinars, and donated to the Foundation. Now that Garrett’s family lives in New York I cannot do much for them physically, but we stay in very close contact. Let me say FaceTime is a lifesaver.
How did you learn about NNPDF?
After Garrett was diagnosed, Courtney began reaching out to other Niemann-Pick families. Ultimately, her contacts and research led her to NNPDF. Over time, we all became aware of this small organization trying to do great things for the patients and families battling this rare disease.
What caused you to get involved with NNPDF initially and how has being an NNPDF member made an impact on your family?
Once Courtney and Justin became involved with NNPDF, they told us they wanted to fundraise for the organization. Hence the birth of Golf for Garrett and my introduction to the Foundation. I soon realized how vital NNPDF is to the Niemann-Pick community. Aside from being a resource for families, the organization is in constant contact with researchers, doctors, pharmaceutical companies – anyone who can help their cause. NNPDF addresses all aspects of the disease. Being a member impacts my family because I have a grandson who benefits from it daily and a son, who in his capacity as dad and Board Chair of the National Niemann-Pick disease Foundation, is constantly advocating for all those affected by Niemann-Pick.
What advice do you have for other grandparents and extended family?
If you can, I would encourage you to attend a NNPDF Family Conference. You will meet the patients, their families, the NNPDF Staff, the volunteers and the experts. These people are our heroes and our hope. The second piece of advice is this: Even though Garrett has ASMD, he is one of the happiest, funniest, and most loving people I know. His disease does not define him. He is special – just like all of my grandchildren. Just love them, support them, and cheer them on.
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.
Updates from Cyclo Therapeutics: Cyclo Therapeutics announces upcoming presentations on its clinical and drug development program for lead candidate, Trappsol® Cyclo™, at WORLDSymposium 2021. Click here for complete announcement.
Cyclo Therapeutics announces positive efficacy data from Extension Protocol with Trappsol® Cyclo™ in patients with NPC. Click here for complete announcement.
Update from Mallinckrodt Pharmaceuticals: Mallinckrodt Pharmaceuticals has shared an important update regarding the adrabetadex (VTS-270) clinical development program with us for the NPC community. Click here for complete announcement.
Update from Orphazyme: Orphazyme provides regulatory update on arimoclomol for Niemann-Pick disease type C. Click here for complete announcement.
Illustrate Your Imagination
In recognition of Global Niemann-Pick disease Awareness Month, the Orphazyme team invites you to join us on a quest to “Illustrate Your Imagination.”
Our team often hears brave stories of your experiences living with Niemann-Pick disease and times when you took on challenges with deep personal courage, perseverance, care, and integrity. We’d like to help your super stories take flight.
Your mission, should you choose to accept it: Visit IllustrateYourImagination.com and download a kit to create your own comic. The kit is filled with page templates, instructions, and some flair to help bring your story to life. Submit your story to our online comic book gallery and check out submissions from other superheroes around the world.
We can’t wait to see the creative stories you come up with!
Head of Global Patient
Stay Connected With Us
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.