November 2020

November 2020

Message from the Executive Director

Dear NNPDF Friends and Family,

Thanksgiving is almost here and while this year’s gatherings will be smaller and quieter than normal, the pause we take over the next few days from our hectic lives gives us some space and time to reflect. As I consider all that I am grateful for this year, I am especially grateful for your support of NNPDF through the donations by your family, friends, and local business supporters, for the volunteer time given by so many of you, for helping us promote awareness of Niemann-Pick disease by sharing our social media posts and e-blasts, and for your input and suggestions about what types of programs and supports are needed for you and your family. I am grateful for everyone working together to find treatments for Niemann-Pick disease including the families participating in clinical trials, and the researchers, scientists, and clinicians working with Niemann-Pick families. And I am hopeful that the future of Niemann-Pick will be filled with hope and possibilities for longer, healthier lives.

The holiday season is not easy for everyone. For many families in the Niemann-Pick community it is a stark reminder of the loss of loved ones. For others, financial challenges feel even more difficult in the whirlwind of holiday gift giving. Please remember that you are not alone. NNPDF is here for you – to talk, to connect with other families, to listen to your stories, and to support you. Contact us any time and please access any and all of the resources we have, including insights from community member Serina Heinze on handling grief around the holidays, NNDPF’s Emergency Hardship Program, and this season’s special Help for the Holidays program, helping to ease the burden of holiday stress while promoting family togetherness.

Wishing everyone a peaceful holiday weekend,



Joslyn Crowe, MSW, MA
NNPDF Executive Director

Grief Around the Holidays

by Miranda Feinberg, NNPDF Intern

Happy occasions and special events are meant to be shared with loved ones and those we hold dear. When we lose a loved one, though, such events become hard to bear. Loss makes the moments that once represented positivity and happy memories warped and ruined. It’s not only normal, but completely expected to grieve harder around special occasions. As Serina Heinze, a member of our NNPDF community, says in her blog post The Grief Who Stole Christmas, “[the holidays are] just like a magnifying glass on the reminder that someone they love is gone.”

One way that Serina focuses on the way grief affects holidays or special occasions is how yearly traditions become disrupted or hollowed. What once might have been enjoyed every year and associated with specific holidays no longer feels special. The tradition is no longer the same; something is missing, someone is gone. Traditions and routines are so ingrained in our everyday lives, so when some part of them is changed and disrupted, the tradition itself becomes troublesome and harmful to our everyday lives. Furthermore, the special-ness of holidays and the magic that is tied to them can conflate the importance of traditions in a way that makes the loss of such traditions even more distressing. Serina uses Christmas as an example of a special occasion with many long-held traditions that can be irrevocably affected by loss. She describes how, after loss, the winter snow transformed from exciting and magical to gloomy and cold, how putting up the Christmas tree became a chore, and how holiday parties became something to be avoided rather than attended.

The loss of a loved one is felt deeply at those times where there was once so much happiness. The loss of that person becomes tied to the loss of those traditions. The simultaneous feelings of grief and sadness mixed with the knowledge that everyone around you is still enjoying those once-special holidays can be very upsetting. Serina acknowledges all of these negative holiday transformations that are born of loss, but she also shares ways that she has begun to move forward. One suggestion she has is to make new traditions. Holding onto the past, resolutely unable to move forward, can immortalize the pain and prevent any healing that could happen during those holidays. Serina suggests using new traditions as a way to remember and move forward; as she says, “it won’t be the same and it never will be, but start a tradition that brings the memory of your loved one back to the holiday season.”

Moving forward is never about forgetting, but about creating something new. Serina suggests lighting a candle in honor of your loved one(s) or going around and sharing favorite memories about your lost loved one(s). Maybe you can make your loved one’s favorite meal or do something that they particularly liked. Creating some new tangible tradition is a good way to express the idea that even though your loved one is gone, the love you feel for them will always remain. It also helps to plan ahead and stay in control when you are approaching an event that you know will be painful. Remember that while it is important to allow yourself to feel and to grieve, it might be healthy to set boundaries for yourself and familiarize yourself with what is harmful and what is helpful to experience. If certain traditions are too painful to bear or certain events are too hard to attend, then don’t force yourself to experience them. Spend time with the people around you and focus on the positives wherever they are.

Help for the Holidays

NNPDF is excited to share that an anonymous donor has offered to help make the holidays a little brighter for those in need! Living with Niemann-Pick disease can be difficult for families and 2020 has come with its own set of difficulties. Our donor family wishes to help ease the burden of Holiday stress while promoting family togetherness and enjoyment by helping with some wish list items for Niemann-Pick families.

Our donor family has asked the items on your wish list encourage family enjoyment, such as fun family activities, crafts, toys, and games, etc. Wish List items could also be items of urgent need such as winter coats, boots, gloves, etc. Families in need will be asked to complete an application which will include a link to a personally created Amazon Wish List. Eligible families will be selected at random and will be notified no later than 12/10 if selected. Wish list items will be shipped to your home via Amazon.

Holiday help recipients are limited to NNPDF members residing in the US. Applications will be accepted until December 4th at 5pm EST.

PLEASE NOTE: Your Amazon Wish List Link must be included in your application. Please create one Amazon Wish list for your immediate family members living in your home. (Click here to learn how to create your list.)

After you’ve created your Amazon Wish List, click Send List to Others, copy your link from the View Only option, and paste your link in the application where requested.

NNPDF In Action

Advice From a Niemann-Pick disease Mom: Avoid Google  Taylor Sabky explains how she came to learn about this devastating disease. Read her story here.

Advocating for ASMD: A Rare Disease Story  Taylor Sabky shares her journey in learning about ASMD. Read article here.

To Help and Be Helped  Taylor Sabky shares how helping can bring healing. Read more here.

How Patient Advocacy Groups are Adapting to Covid-19  Justin Hopkin, MD, NNPDF Board Chair talks about the changes made to keep our community connected and during Covid-19. Click here watch the video.

New Treatments May Be Available for Niemann-Pick disease Soon  NNPDF Executive Director, Joslyn Crowe, shares about programs developed to prepare families for when Niemann-Pick treatments get approved. Watch video here.

Firefly Fund Chat: NNPDF  Pam and Chris Andrews have a conversation with NNPDF Executive Director Joslyn Crowe and Board Chair Justin Hopkin about their journeys to NNPDF, the resources NNPDF provides, and what is on the horizon. Listen here.

Teacher’s mission: Defeat disease that cost her son his life  By sharing Purnell’s story, Taylor Sabky puts a human side to ASMD. Read more.

Community Update Webinar Series: ASMD Clinical Update

Thank you to all who joined for the ASMD Clinical Update webinar. If you were unable to join us or would like to watch again, the recording is now available. Click here!

Illustrate Your Imagination

NPC1 Interview Research Study: Worldwide Clinical Trials is looking for approximately 10-15 individuals who are currently caring for someone with NPC1 in the US, to participate in an interview survey where you will be asked questions about symptoms and impacts the person you are caring for may have experienced as a result of their condition.

NPC Therapy Accelerator: Families or caregivers of persons with Niemann-Pick Type C are invited to take a survey that is designed to collect information about your priorities and preferences for treating Niemann-Pick Type C. Information collected here is important to help the U.S. FDA understand your thoughts and feelings about potential treatments for NPC.

Click here for complete information for surveys listed above.

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 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!

Regan Sherman
Head of Global Patient Advocacy Relations

Join the NNPDF Community Game!

Check out the new COMMUNITY GAME and play along to win a prize! Follow the directions below to get started. Game ends November 30th!

The NNPDF Community section of the app keeps you connected to NNPDF friends and families, and up-to-date on our latest news, updates, and programs throughout the year. The NNPDF Community Mobile App is available through the App Store and on Google Play.

Family Journeys Blog

The Family Journeys Blog posts have been updated for the month of November. Follow our 4 NNPDF families from across the country as their share monthly updates to bring some light and positivity to our community! Our blogger families share personal, uplifting, hopeful stories to show what it means to be living with Niemann-Pick disease. Check out the blog!

INPDR Update

Last month we were hoping to share some exciting news about recruitment of a US-based Clinical Research Associate as part of a project backed by the Ara Parseghian Medical Research Fund, so we are delighted to welcome Lakeisha Simmons to role.

Lakeisha has over 14 years of experience in the field of clinical research in a variety of roles. She has worked on many therapeutic trials such as infectious disease, cardiovascular, oncology and respiratory, holding a variety of positions including Study Coordinator, Clinical Research Associate and Clinical Lead. Lakeisha will be working with existing clinical sites signed up to the INPDR, as well as bringing new ones onboard to support focussed efforts to enhance recruitment to the Registry across the US so your next appointment could be a great time to discuss signing up to the INPDR with your clinician.

This is such an important milestone for the INPDR, which could not have been achieved without the support of the NNPDF. We are looking forward to boosting recruitment in the US, which will result in better research and progress for the Niemann-Pick community in the US and around the world.

You can find out more about our plans in the newly officially published Strategic Business Plan 2020 – 2022, which sets out our ambitious targets for the next few years and what difference it will make for Niemann-Pick patients and their families. We will be focusing on some key themes in the document over the coming weeks on our social media channels and in our next update to you all. The problem as many of you will already be aware is that data for a rare disease like Niemann-Pick can be hard to curate, which can mean diagnosis, treatment and care are slow and/or ineffective. The INPDR can solve this problem through Niemann-Pick patients around the world sharing their data and offering a rich, natural history that can be researched and studied to develop more accurate diagnosis, better treatments and the right care – every patient matters.

Thank you for sharing our vision and your data. Remember, if you have any questions about the INPDR, please get in touch – we are always happy to help.

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.

Update from Cyclo Therapeutics: Cyclo Therapeutics announces two presentations at WORLDSymposium2021. CLICK HERE for complete announcement.

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 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.

Stay Connected With Us

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Supporting one another. Supporting our community.