Honoring Niemann-Pick Caregivers during National Family Caregiver’s Month

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Joslyn Crowe, NNPDF Executive Director

November is National Family Caregiver’s Month – an important opportunity to honor the incredible dedication and unwavering support of caregivers across the world. At the National Niemann-Pick Disease Foundation (NNPDF), we deeply value the crucial role that caregivers play in our community. We also recognize the importance of ensuring caregivers have access to resources that can help manage the emotional, physical, and financial challenges they experience.

This year’s theme, #CaregiversConnect, highlights the power of making connections throughout the caregiving journey. The challenges faced by caregivers in the Niemann-Pick community can be immense. Managing treatment plans, navigating a maze of healthcare systems, and coping with the emotional toll are just a few of the hurdles our caregivers confront daily. Having a network of support and making connections with other caregivers can help ease the burden of these challenges. Sharing experiences, insights, and emotional support with others who share a similar journey can provide a profound sense of comfort and solidarity. At NNPDF, we work hard to provide opportunities for caregivers to connect including through our online Community Connections support groups and our Annual Family & Medical Conference where caregivers can meet, attend sessions catered to their needs and interests, and make lasting friendships.

Find your tribe. Be it that one person, group of people, within the NPC community, within your local community, in your personal friendship circle, or wherever. But find those people who can be there to listen, to vent to, to share stories with, to cry or laugh with, and to find encouragement from. They are the ones who will pull you through when you feel like there is no way forward. – Barb Lazarus, NPC caregiver

This month also represents an opportunity to highlight the importance of personal health. Amidst their dedication to their loved ones, caregivers often overlook their own well-being. However, it’s essential to prioritize self-care. Taking moments for yourself is not selfish—it’s a necessity. Whether it’s finding time for relaxation, engaging in hobbies, or seeking support from others, caregivers must recognize the importance of their own mental and physical health. When our caregivers prioritize self-care, they become better equipped to provide the best possible care for their loved ones.

My advice to other caregivers would be to reach out to others, just talk. Ask for help when you need it. If you aren’t healthy, you can’t take care of your loved one. – Dan Reynolds, NPC caregiver

During National Family Caregivers Month, we invite the community to join us in recognizing and expressing gratitude for the remarkable dedication of caregivers who support people impacted by Niemann-Pick disease every day. To all the caregivers, your unwavering dedication is awe-inspiring. Your resilience is commendable. Your love and care are invaluable. Taking care of yourself is just as crucial as caring for your loved ones. Remember, you are not alone—reach out, connect, and prioritize your well-being. Together, let us continue to support and uplift each other in this journey. Thank you for being the unsung heroes of the Niemann-Pick Disease community. Your selfless dedication inspires us all.

For more information and support, please visit nnpdf.org/family-support/ or reach out to us at familyservices@nnpdf.org.

Quinn Madeleine Foundation

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Quinn Madeleine Foundation (QMF) recently announced that after a decade of work dedicated to awareness of hope, memories for life in honor of the founders’ daughter Quinn, the organization is dissolving. QMF’s incredible work Includes identifying 32 carriers of the pathogenic mutation that causes Niemann-Pick, type A (also known as Neurovisceral Acid-Sphingomyelinase Deficiency, or Neurovisceral ASMD).

NNPDF is honored to have been chosen to carry on the incredible work of the QMF as the recipient of funds that will go towards the following programs:

  • NNPDF’s ASMD Research Fellowship
  • Newborn Screening
  • Contribute Findings of their carrier research to the International Niemann-Pick Disease Registry (INPDR)

The generosity of this act, and the trust this shows from the QMF in the stewardship of NNPDF, is the highest compliment we could receive and a reflection of our dedication and commitment to fulfill the unmet needs in the community.  We are humbled and honored by this remarkable gift.

Celebrating Family Strength During Niemann-Pick Awareness Month

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#niemannpickawareness #NPC #ASMD #raredisease

October is a special month for the Niemann-Pick disease community, as it marks Niemann-Pick Awareness Month – a time to come together, raise awareness, and celebrate the strength and resilience of those affected by the disease. This year, the National Niemann-Pick Disease Foundation (NNPDF) is focusing on a theme close to our hearts: families and the profound impact that Niemann-Pick has on each member of the family unit. From the person living with Niemann-Pick, to their siblings, parents, and extended family members, everyone is touched by the journey and strength required to navigate this complex condition.

NNPDF is proud to be the national patient advocacy organization that works to support every family member affected by Niemann-Pick disease. While rare disease awareness events often center around those living with the condition, it is equally important to recognize the impact that a disease has on all members of a family. Niemann-Pick Awareness Month holds significant importance for all family members:  

1. Creating a Supportive Network: Niemann-Pick Awareness Month provides a platform for families to come together and connect. In the face of this rare disease, the sense of isolation can be overwhelming. Awareness events help bring together a supportive network of individuals who understand the unique challenges and can offer valuable emotional support.

2. Raising Public Awareness: Rare diseases often suffer from a lack of public awareness, which can hinder research efforts and access to resources. Niemann-Pick Awareness Month shines a much-needed spotlight on the disease, helping to better educate the public and government and industry leaders who have the power to make an impact in our community.

3. Advancing Research and Treatments: Over the past several years, our community has made remarkable strides. We now have a treatment available for ASMD and are witnessing exciting progress in research for Niemann-Pick type C (NPC). Awareness events generate interest and funding for research, bringing us closer to effective treatments and, ultimately, a cure.

4. Empowering Families: Awareness months empower families with knowledge and resources. Families learn about the latest developments in research and treatment options, as well as programs to support the emotional and financial challenges that come with this disease, empowering them to make informed decisions about their loved one’s care.

5. Celebrating Resilience: Despite the challenges we face each day, the Niemann-Pick community exemplifies resilience and strength. Awareness events provide a platform to celebrate the courage and determination of those living with the disease and their families. It is a special time to show the world our strength and the impact we can have when we come together and fight for access to resources and treatments.

This year, as we celebrate Niemann-Pick Awareness Month, let’s take a moment to acknowledge the incredible progress we have made as a community. From the tireless efforts of researchers to the unwavering support of families, we are on the path towards better treatments and more support for all people impacted by this disease.

Throughout October, we invite all members of this amazing community to join NNPDF in recognizing and celebrating the determination and bravery of patients, families, healthcare professionals and advocates. Learn how to use our custom-designed template to tell the world about your connection to Niemann-Pick. Use our social media profile badges to show your support. Visit our awareness month website to learn more about how you can be an advocate and get involved. This month, and every month, join us in raising awareness as we look forward to a future where all people impacted by all types of Niemann-Pick disease have access to life-changing treatments.

Niemann-Pick Awareness Month – Social Media Toolkit

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Niemann-Pick Awareness Month Social Media Toolkit provides you with resources you can use to show your support for Niemann-Pick Disease Awareness Month throughout October. Be sure to include the official hashtag – #NiemannPickAwareness – to be a part of the online conversation! Feel free to also include the #NPC or #ASMD hashtag with your post.

The Importance of Newborn Screening for Niemann-Pick Disease

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Joslyn Crowe, NNPDF Executive Director

September is Newborn Screening Awareness Month, an important opportunity to focus on this critical and often unmet need in healthcare. Through our materials and programs, NNPDF has been dedicated to raising awareness of the importance of newborn screening for Niemann-Pick diseases and for other lysosomal storage disorders.

Newborn screening is designed to detect certain genetic, metabolic, and congenital disorders in newborn babies. In testing, a blood sample is analyzed to confirm the presence of specific markers or abnormalities that are associated with certain diseases or disorders. Newborn screening can make it possible for many infants to get a diagnosis that can lead to earlier treatment or other steps to protect and improve their health. Early treatment and management is often associated with better outcomes, improved quality of life, and reduced risk of long-term complications associated with certain diseases.

Despite the clear benefits of newborn screening, available programs and access to testing can vary widely by state. The Department of Health and Human Services (HHS) has developed a list called the Recommended Universal Screening Panel (RUSP) that identifies diseases and conditions for which every baby should be screened. Of the 7,000 known rare diseases, only 35 are included in the RUSP.  Niemann-Pick disease is not included on this list.  Each state can determine the diseases that are included in screening in that state. Currently, only Illinois and New Jersey offer newborn screening for ASMD; a new pilot program in New York includes screening for both ASMD and NPC.

NNPDF continues to work in many ways to advocate for the inclusion of Niemann-Pick in more newborn screening panels across the country. Most recently, NNPDF helped to found the Lysosomal Storage Disease Advocacy Coalition (LSDAC), a new coalition of different patient advocacy organizations dedicated to advancing public policy priorities that benefit and improve the quality of life for people living with lysosomal storage disorders. Involvement in the LSDAC supports our newborn screening efforts for ASMD while our advocacy for NPC is executed as an active member of the Firefly Fund’s NPC Newborn Screening Working Group. In April 2023, NNPDF board member Taylor Sabky, attended a newborn screening awareness event held by LSDAC at the State House in Massachusetts to represent the ASMD community in support of legislation that would expand the newborn screening panel to include several lysosomal storage disorders. Taylor shared her son Purnell’s journey with ASMD and the impact that early awareness of the disease through newborn screening would have had on their lives.

“By adding Niemann-Pick to newborn screening panels, you are giving families time and options. Families will not have to wait for months on end wondering what is going on with their child. They won’t have to endure a multitude of appointments or feel like a lab rat as test after test is performed to figure out what’s wrong. People with Niemann-Pick won’t have to experience symptoms without remedy; they can access treatment right away that will keep their livers and spleens normal size and functioning properly, that will help their breathing, that will allow them to continue to engage in their lives like a person, not a patient. And as they plan their future families, they can make informed decisions.” – Taylor Sabky, mother of Purnell

Early diagnosis and intervention of all types of Niemann-Pick disease is crucial, especially as we consider that more treatments might be available in the years ahead. We now have a treatment available for ASMD and many research efforts are underway to develop a treatment for NPC. Delays in diagnosis can lead to more advanced disease that can make treatment more challenging and less successful. During Newborn Screening Awareness Month and throughout the year NNPDF joins with people affected by all types of Niemann-Pick disease as well as caregivers and healthcare professionals to advocate for access to screening services that can have a profoundly positive impact in the management of Niemann-Pick disease. To learn more about our efforts visit nnpdf.org/newborn-screening/

“Newborn screening would have helped us. When I think of all that Purnell accomplished in his short life, I wonder, what more could we have done if we had known about his disease a full year sooner?” – Taylor Sabky

Unlocking the Potential of Digital Health Solutions for Rare Disease Communities

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Joslyn Crowe, NNPDF Executive Director

In recent years, digital health solutions have emerged as transformative tools that have the potential to redefine how we care for individuals with rare and complex diseases such as Niemann-Pick. The broader integration of many different forms of technology into healthcare represents both an important trend and a potential leap forward in standards of care that can provide more personalized, efficient and comprehensive support for both patients and caregivers.

Digital health solutions now include a broad range of options – everything from telehealth services to new monitoring devices, wearable technologies and home testing capabilities. These advances can rapidly expand access to real time data and other information that can play a role in treatment and patient support. In many cases new devices can be easily used by patients or caregivers while discreetly serving as data collectors that can capture a wide spectrum of vital signs, symptoms, and other observations. For the Niemann-Pick community, these technologies hold significant potential, potentially providing new and more effective methods for tracking symptoms and noting changes in a broad range of health indicators. The data can then be shared with care teams as well as researchers, offering them invaluable insights into disease progression and impact. The information available through new digital technologies can make it easier to understand and assess the impact of Niemann-Pick on someone’s health and quality of life. This level of insight can be a valuable tool at all phases of the Niemann-Pick journey from early symptom onset through diagnosis and long-term management.

Digital health solutions can also empower patients and families, potentially helping opportunities to guide the development of more targeted treatments and interventions, by generating real-time data that can support health decisions in many areas.

NNPDF is partnering with the community organizations including INDPA, INPDR, APMRF, and others to explore the possibilities that digital health technologies can provide for our community. We are speaking with families and clinical experts to gather feedback and will share updates on this progress along the way.

As we advance in this new and promising era in healthcare, our goal is to ensure that you have the information you need about digital health technologies and how they may benefit the Niemann-Pick community. Though the road ahead may be unfamiliar, the potential that these technologies hold for our community is undeniably worth our careful consideration.

Honoring and Supporting Men Who Serve as Caregivers

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June is Men’s Health Month, a great time to focus on the many important issues in healthcare that affect men specifically. At the National Niemann-Pick Disease Foundation (NNPDF), we are taking this opportunity to highlight the contributions of an important and growing group of often unsung heroes in our community – the many men who care for people living with Niemann-Pick disease.

In recent years, many of us in the Niemann-Pick community have observed an interesting phenomenon. There has been an increase in the number of men who are stepping into a primary caregiver role.  Multiple factors may be contributing to this change, including progress in treatment and patient management that is helping more people with Niemann-Pick to live longer and fuller lives, and societal changes that reinforce that many family responsibilities that have historically been assumed by women can and often should be handled by men either solo or in partnership. At NNPDF we have consistently worked to understand the challenges that caregivers can face and to develop the resources and programs that can ease their burden and help them succeed. It is vitally important that our services reach and support both men and women caregivers, and we must also work to assess any challenges or issues in caregiving that may be unique to or more common among men.

A key issue we work to understand and address at NNPDF is the fact that many caregivers, both men and women, face physical, emotional and financial challenges in their roles, and they often are hesitant to reach out for help. But studies indicate that men are much more likely to not engage in help-seeking behavior and to downplay their physical and mental health symptoms (1,2). Men are also more likely to associate seeking assistance for a psychological or emotional problem with shame or weakness (3). Men who serve as caregivers may also be more prone to feelings of loneliness and isolation because they have limited opportunities to connect with other men who are in similar caregiving roles. These characteristics can have a devastating impact on both caregivers as well as the patients they care for. 

To address these challenges, NNPDF is now working in many ways to develop opportunities for male caregivers to connect, learn, and receive the support they need. We offer customized support groups, counseling services, and educational resources to help caregivers learn about best practices and available resources that can help. Our Family Assistance and Support Program provides assistance to families facing unexpected medical expenses or financial hardships, alleviating some of the financial stress they may encounter. Our Family Services program provides many resources and support services that can help families navigate the challenges of living with Niemann-Pick disease. We advocate for targeted resources that address the specific needs of both men and women caregivers to ensure they have access to the support they need. Our annual Family Support & Medical Conference serves as a vital opportunity for caregivers to foster friendships and networks of support that are invaluable during difficult times, and each year more men join and have the opportunity to connect with male peers who understand their unique experiences.

By focusing on and honoring the role that caregivers can play in supporting someone with Niemann-Pick disease, NNPDF is also working to reinforce that seeking help can be an act of courage. It is another reflection of a caregiver’s commitment to getting the job done right and being as effective as possible in the role. This month, we invite all members of the Niemann-Pick disease community to join in celebrating the many selfless and courageous men who have dedicated themselves to caring for a loved one impacted by Niemann-Pick disease. By raising awareness of the role of male caregivers and prioritizing their support, we can create a stronger, more compassionate community that uplifts and empowers all those affected by Niemann-Pick disease. To make sure that all Niemann-Pick families have the support they need at all times, we must take steps to ensure that all caregivers feel recognized, supported, and empowered throughout their caregiving journey.

References
[1] Cochran, S. V., & Rabinowitz, F. E. (2000). Men and depression: Clinical and empirical perspectives. San Diego, CA: Academic Press.
[2] Paulson, J. F., & Bazemore, S. D. (2010). Prenatal and postpartum depression in fathers and its association with maternal depression: a meta-analysis. JAMA, 303(19): 1961-9. doi: 10.1001/jama.2010.605.
[3] Addis, M. E. & Mahalik, J. R. (2003). Men, masculinity, and the contexts of help-seeking. American Psychologist, 58(1): 5–14. doi:10.1037/0003-066X.58.1.5

Supporting the Niemann-Pick community in an era where treatments are possible

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By Laurie Turner, NNPDF Family Services Manager

Throughout its history, the National Niemann-Pick Disease Foundation (NNPDF) has been committed to providing support that can make the journey of living with Niemann-Pick disease easier. And for most of that time, the focus has been on helping patients get the information and support they need while no approved treatments have been available. In my role as NNPDF Family Services Manager, I have seen firsthand how patients and caregivers have worked tirelessly to support research and to take whatever steps are available to preserve and protect their health. I have witnessed extraordinary efforts to overcome so many challenges and to try to stay positive and keep fighting. And at NNPDF we have continually worked to expand and revise our resources and support programs to meet the changing needs of our community in new and better ways.

More recently, our community has faced a wonderful new set of both challenges and opportunities following the first-ever approval of a treatment for ASMD. Once again NNPDF has risen to the occasion with many forms of support and resources to help families learn about and access treatment. And the learnings from this experience have provided us with many important insights as we plan for an era when even more treatments will be available to patients.   

The approved treatment, Xenpozyme, is enzyme replacement therapy developed to replace the enzyme acid sphingomyelinase (ASM) that is deficient or defective in people living with ASMD. As this drug was developed, NNPDF took several steps to help families learn about the research and understand how the drug works. We also worked to help many patients get access to this treatment before it was approved through a special initiative known as a managed access program. In our outreach we learned that many families were not aware that it can be possible to get access to a treatment prior to approval.

Our support continued through the final stages of regulatory review – taking steps to make sure families were updated and ready in the event that the drug was approved. Our programs and outreach worked to help families understand the steps they need to take to be able to access a new drug once it is commercially available. This included information about the cost of the drug, insurance coverage and reimbursement, home-versus-center infusions, travel needs, side effects and other important considerations. We wanted to make sure that the community was ready and informed so that appropriate patients could access treatment as quickly as possible.

In addition to working with families, we also met regularly with the team at Sanofi, the company that developed Xenpozyme. In these meetings we discussed the importance of making sure that patients could access treatment and we worked with their team to explore options to support families facing special challenges. We also highlighted the importance of communication as families continued to have questions after they began treatment. We worked to make sure that patients and families knew where to go with questions and about the services available through the Sanofi Care Team and The Assistance Fund, a nonprofit that provides support for families that need high-cost medicines.

Our experience supporting the ASMD community has also provided many essential insights that will help us better support all people impacted by all types of Niemann-Pick disease in the years ahead and especially as we plan for more treatments to be available. The successful approval of Xenpozyme has put hope on the horizon like never before. And for all people who are affected by Niemann-Pick disease, the NNPDF team will be ready with the information and services you need to access care and get the fullest possible benefits from treatment.

Follow National Niemann-Pick Disease Foundation on LinkedIn for more insights, stories, and updates.