The Impact of Dysarthria

Blog

In this video, National Niemann-Pick Disease Foundation (NNPDF) Board Member Cara Gilmore provides insight into her journey with Niemann-Pick disease type C and the impact of Dysarthria on her day-to-day life. The video also features Dr. Robin Lachmann (UCL) who gives expert insight into how Dysarthria can be one of the ways in which Niemann-Pick disease type C can be diagnosed. Thank you for sharing Cara. Watch the video.

NNPDF is Showing our Stripes for Rare Disease Day 2023

Blog

Every year, the National Niemann-Pick Disease Foundation (NNPDF) proudly joins with patients, families, healthcare leaders and advocacy groups to recognize Rare Disease Day (RDD) on the last day of February. We take this opportunity to show our support not only for the Niemann-Pick community, but also for 6,000+ other rare disease communities across the world.

In many awareness efforts during RDD, we often see images of zebras – the “official” symbol of rare diseases in the United States. This image ties in directly to the “show our stripes” theme embraced by many advocacy groups. But what does this really mean? How does a zebra relate to people living with rare diseases and why does this matter?

The use of the zebra as a symbol for rare disease communities began in the late 1940s when medical students were taught the saying “when you hear hoofbeats, think horses, not zebras.” This phrase was intended to remind medical professionals to consider the most common and likely diagnoses first, rather than getting caught up in trying to diagnosis a rare or exotic disease early in the patient’s care. But as more and more rare diseases were discovered, the healthcare community started to realize that many patients are affected by rare diseases and that providers should take steps to expand their diagnosis strategy in many cases. The need is especially acute given that many rare diseases are misdiagnosed and the path to diagnosis can often take years or even decades. Over time, the zebra came to serve as a reminder for healthcare professionals to consider the possibility of a rare disease when faced with complex or unusual symptoms.

The zebra symbol is particularly meaningful for the Niemann-Pick disease community. While efforts to build awareness have made progress, Niemann-Pick disease is still not widely known or understood. Patients often must undergo a series of tests and doctor visits before they reach a diagnosis. Many of the more common symptoms associated with Niemann-Pick are also associated with other more common diseases. It is not surprising then that many doctors continue to first consider a “horse” rather than a “zebra” in assessing patients. As an organization, and a community, we must help build broader awareness of the need to consider Niemann-Pick disease for at-risk patients. Our work to raise awareness can help more medical professionals to become familiar with the signs and symptoms that can lead to an accurate Niemann-Pick diagnosis. We must continue to highlight the importance of early diagnosis and treatment, which can greatly improve the quality of life for patients and their families.

This Rare Disease Day, NNPDF is calling on every member of our wonderful community to “show your stripes” and join us in supporting people affected by rare diseases. Together, we will create a world where more people with rare diseases receive timely and accurate diagnoses, have access to effective treatments, and are able to live their lives to the fullest. No family needs to face a rare disease alone. United we represent hope, determination, and a community that refuses to give up.

Elevating Community Voices During Rare Disease Awareness Month

Blog

Rare Disease Month, held every February, represents an opportunity for the millions of patients, families, caregivers, advocates, clinicians and researchers who are a part of the Rare Disease Community to join together to raise awareness that can lead to better support and more treatments. And once again this year, NNPDF has a full schedule of exciting initiatives to highlight important issues related to Niemann-Pick disease during the global awareness event.

The theme for Rare Disease Month 2023 is “Share Your Colors”, which reflects one of NNPDF’s core goals – to make sure that the impact of Niemann Pick disease and the needs of our community are being heard and understood by people who can help make a positive difference. One way we are working to help members of our community share their stories is by providing support to patients and families to attend events planned by the Rare Disease Legislative Advocates (RDLA) on Capitol Hill in Washington, DC. This event is an important opportunity to help leaders in government and policy makers learn more about the challenges we face and the support that patients and families need. Participants will also have the opportunity to attend workshops and meet with other rare disease leaders to discuss bringing positive change to rare disease communities in need. NNPDF has offered a limited number of $500 stipends to assist with hotel and travel to the event to encourage families who want to share their stories. 

We also have many other activities planned, including: 

  • Our NNPDF & NTASD sponsored community meeting with the research team from Azafaros to learn about the Phase 2 multi-national trial for AZ-3102 in Niemann-Pick Disease Type C and GM2 gangliosidosis.
  • A special “Thanking Healthcare Heroes” program where families can sign up to send a thank you card mailed by NNPDF to a provider who has had a positive impact on your health and your life.
  • Rare & Ready Advocacy Bootcamp to learn best practices to help reach out to  legislators and be a part of the policy decisions that affect our community.
  • Resources and ideas to help show your support on social media by updating your profile picture or sharing information cards provided by the Rare Disease Day sponsors.

Your participation in Rare Disease Awareness Month is a chance for you to help shape a better future for everyone affected by Niemann-Pick disease.

NNPDF is honored to be joining in this effort with you throughout the month.  Let’s show our colors and let the world see just how strong and dedicated we are!

Supporting one another. Supporting our community.

The Assistance Fund – ASMD Financial Assistance Program

Blog

The Assistance Fund is pleased to share the opening of its Acid Sphingomyelinase Deficiency Financial Assistance Program.

The program provides financial assistance for the following:

  • Prescription drug assistance (copays, deductibles, and coinsurance) on all FDA-approved treatment for ASMD
  • Health insurance premiums
  • Therapy administration costs
  • Disease management (such as prescribing-physician copayments)
  • Treatment-related travel costs
  • Genetic testing

The Assistance Fund (TAF) helps patients and families facing high medical out-of-pocket costs by providing financial assistance for co-payments, coinsurance, deductibles, and other health-related expenses. Since its founding in 2009, TAF has helped more than 160,000 children and adults in all 50 states, Washington, DC, and Puerto Rico.

Among TAF’s 80 disease programs is the Acid Sphingomyelinase Deficiency (ASMD) Financial Assistance Program. The Acid Sphingomyelinase Deficiency Financial Assistance Program provides financial assistance for out-of-pocket costs associated with all FDA-approved treatment for ASMD, including prescription drugs (copays, deductibles, and coinsurance), health insurance premiums, therapy administration costs, disease management (such as prescribing physician copayments), treatment-related travel costs, and genetic testing.

To be eligible for assistance, patients must be U.S. citizens or permanent residents, meet certain income requirements, have a diagnosis of the disease named in the disease program, have government or private health insurance, and a prescription for an FDA-approved treatment for ASMD. Once a patient is enrolled in a disease program, their coverage lasts the entire calendar year and there is no cap on the amount of assistance in that calendar year.

The Assistance Fund Press Release 01/16/2023
ASMD Financial Assistance Program One-Pager

To learn more, or to apply today, visit enroll.tafcares.org or call (855) 233-0505.

Supporting one another. Supporting our community.

The Benefits of Having a Great Local Care Team

Blog

Most patients and families in the Niemann-Pick community are too familiar with the need to travel to access the specialized medical care they need. Among our many services at NNPDF, patients often turn to us to find hospitals and doctors that have specific experience in treating Niemann-Pick disorders. We maintain a list of Comprehensive Care Centers that can help patients and families have access to Niemann-Pick specialists.

Despite these efforts, in many cases patients do not live in areas where medical specialists with experience in Niemann-Pick disease are nearby. They must then depend on non-specialists for much of their routine and emergency medical care. In these cases, it is important for patients and caregivers to identify the best strategies and options to build a strong local care team. These efforts are essential to make sure that patients have access to the full range of care services they need. 

By taking the time to research and build a strong local care team, patients can access a range of benefits including convenience, faster access to care, less time off from work or school, reduced costs and the comfort of knowing that support is available close to home if there is an emergency.

The best local team can differ significantly for different patients based on their health status and needs.  At a minimum, every Niemann-Pick patient should have a dedicated local primary care physician (PCP) to provide support for routine health needs. If the PCP is not familiar with Niemann-Pick disease, the patient and caregiver together should work to provide information about the disease that can help inform and guide treatment. This can also help the PCP be better prepared to monitor patient progress and medications between visits with a specialist and provide referrals as needed.

In addition to the PCP, the local care team might include many other specialists who can play an important role in care, including:  

  • geneticists
  • neurologists
  • gastroenterologists
  • pulmonologists
  • physical therapists
  • speech therapists

Patients should talk to both their PCP and their Niemann-Pick specialist about the different other medical experts they might need as part of a care team. From there, a PCP might be best positioned to help identify specialists in the area who might be a good fit. Once again, it can be helpful to provide every member of a local care team with information about Niemann-Pick disease and the patient’s full medical history.  At NNPDF our Family Resources page offers information that can be easily shared with any member of a medical team.

In any community, you might start a search for a PCP or other specialists by asking friends and family members for a referral. If you need assistance finding a physician, there are also several helpful online websites including ZocDoc, MediFind, and Vitals that can help identify doctors in your area.

NNPDF also often works with patients and caregivers to help identify medical experts who are available to work with patients at every step of their Niemann-Pick journey. Our experts are available to provide guidance and access to resources that can help you find local physicians and materials and strategies that can help make sure that your team is able to provide you with the very best support possible. For more information or if you have any questions, please reach out to us at nnpdf@nnpdf.org.

 

Supporting one another. Supporting our community.

Global Niemann-Pick Disease Awareness Day: The International Fight Continues

Blog

By Joslyn Crowe

Each year on the 19th of October the National Niemann-Pick Disease Foundation joins with the global community of patients, parents, caregivers, clinicians, and researchers in recognizing Global Niemann-Pick Disease Awareness Day. This day represents an international effort to build broader awareness of the impact this disease has on patients and families and is an important opportunity for all of us to join forces and raise our voices to highlight the issues affecting our community in countries around the world. It is also a time to reflect on the progress and challenges of the past year and to think critically about how we can all work together to have an even bigger impact in the coming years. As we celebrate the progress made in the past year, we can also reinforce our commitment to ensuring that ALL people impacted by ALL types of Niemann-Pick in ALL parts of the world have access to treatments, services and programs that can make a positive impact on their lives.

At NNPDF, we are dedicated to working to expand access to the care and support services that can help diagnosed individuals and caregivers manage a wide range of emotional, financial, and medical challenges. We are also dedicated to raising broader awareness on a global scale so that more people will understand the experience of living with NPD and more diagnosed individuals will get the help they need. We regularly meet with leaders in government and industry to ensure that they understand the challenges that patients and caregivers face every day. We collaborate with partners to conduct research that sheds new light on the issues affecting patients and caregivers in our community. We also worked tirelessly to develop and support initiatives that can help expand access to treatment. This is also a year where we experienced some historic moments with the approvals of a first treatment for ASMD in the U.S., Europe, Japan, and Brazil. This landmark event is an example of what we can achieve for the global community when we work together.

As we reflect on our accomplishments of the past year, including the approval of a drug to treat ASMD, the importance of collaboration is clear. Many of the successes in our community are achieved through joint efforts by many different stakeholders who are willing to work together towards a common goal. NNPDF is committed to working with partner advocacy organizations, sharing resources and information that can benefit all patients. We are a proud supporter of the International Niemann-Pick Disease Registry, a global collaboration between clinicians, scientists, researchers, and patient associations around the world to collect data that can support future research. We also work closely with the International Niemann-Pick Disease Alliance and other organizations to share resources and insights that can benefit patients and their families.

The challenges and accomplishments of the past year demonstrate that our global community is stronger than ever. We have come a long way, but the fight is not over. Let us continue working together, reaching across borders, staying hopeful, and fighting for our community’s right for access to life-changing treatments. The battle continues.

Supporting one another. Supporting our community.

Celebrating #NiemannPickChampions during Niemann-Pick Awareness Month

Blog

As we celebrate Niemann-Pick Awareness Month this October, the National Niemann-Pick Disease Foundation will use this important observation to highlight and recognize many of the significant accomplishments achieved by members of our community over the last year. We can take this opportunity to recognize so many of our “Niemann-Pick Champions,” including heroic efforts by patients, caregivers, researchers, clinicians, and advocates who have contributed to making a positive difference in many ways. Champions from our community have helped us make historic progress in research and efforts to build awareness. So many have joined in efforts to help others. Our Champions are reaffirming our commitment to fighting for more treatments and services to support ALL people impacted by ALL types of Niemann-Pick disease and are continuing the fight to make access to care possible for everyone living with Niemann Pick disease.

Over the past year, we have been so grateful to the patients and caregivers who have participated in meetings, shared their voices in webinars, posted information on social media, and interacted with local media and community leaders to make sure the needs of our community are being heard. Our Champions also include many dedicated clinicians and researchers who have continued to move research forward to help our community find more paths that can lead to new treatments. Every person who has advocated for our community in even the smallest way is Niemann-Pick Champion and we thank you for your continued support.

One of the greatest moments our community experienced this past year was the historic approval of a first ever treatment for ASMD in the U.S., Europe, and Japan. This landmark event is the result of years of dedication by so many stakeholders in industry as well patients, families, and other members of advocacy communities, and it shows what is possible when we join together in a common goal. We should all see this milestone not as an end, but as a beginning and a chance for renewed hope. All of our Champions know that there are many other members of our community who are still waiting on research to bring them a treatment. Working with Champions at every level, NNPDF remains dedicated to advocating for patients and caregivers and we will not stop until all people affected by all types of Niemann-Pick disease have access to the care they need.

Throughout October, we invite all of the members of this amazing community to join with NNPDF in recognizing and celebrating the #NiemannPickChampions in your life. Learn how to use our custom-designed template to tell the world about your Niemann-Pick Champion. Create your own social media profile frame to show your support. Visit our awareness month website page to learn more about how you can be an advocate and get involved.  We call our community leaders and dedicated individuals “Champions” because together we can win this battle and achieve our mission of bringing a future of better health and hope to every member of the Niemann-Pick disease community.

Supporting one another. Supporting our community.

Message from the Executive Director

Blog

Who’s your #NiemannPickChampion?

October is Niemann-Pick Awareness Month! These next few weeks are an especially important time to tell your family stories on your experiences with Niemann-Pick Disease. Show everyone who’s your #NiemannPickChampion! There is no better time to increase awareness of Niemann-Pick Disease and to educate friends, policy makers, clinicians, and others about this rare disease.

The Niemann-Pick community is filled with champions – champions impacted by this disease everyday, fighting for approved treatments, working towards a cure, and champions keeping the memories of those who have passed.

Over the course of the month, we will offer a range of activities to highlight the community’s #NiemannPickChampion(s) and to promote Niemann-Pick awareness through educational information and social media posts you can share, virtual forums to connect with NNDPF staff and Board members for community conversations, awareness events with our pharmaceutical partners, and of course, we will join with our INPDA partners on October 19th for Global Niemann-Pick Awareness day.

Receiving a rare disease diagnosis can be a devastating and emotional experience. NNPDF is dedicated to an enduring patient support community that embodies strength, hope and empathy for those affected by all Niemann-Pick disease types. We work tirelessly to support and advocate for access to treatments and supports that can make a positive difference in helping affected individuals and caregivers manage a wide range of emotional, financial, and medical challenges. Through our work, families know they are not alone and that an entire community of caring people is  standing alongside them in their journey.

For over 30 years, NNPDF has been a leader in advocating for the needs of all members of the Niemann-Pick community, in support of every #NiemannPickChampion, by connecting our voice with leaders in research, industry, and government at every level who can  help make a significant difference in the lives of those impacted by Niemann-Pick disease.  The battle continues, but we will never give up the fight.

Warm Regards,


Joslyn Crowe, MSW, MA
NNPDF Executive Director

Supporting one another. Supporting our community.

NNPDF Celebrates Monumental Milestone with the First U.S. Approval for ASMD

Blog

The National Niemann-Pick Disease Foundation joins with patients and families in the U.S. and the entire global Niemann-Pick community in celebrating this historic advance in research: the first-ever U.S. approval of a treatment for ASMD!

For more than 20 years, NNPDF has worked to support patients and families impacted by ASMD (acid sphingomyelinase deficiency) by raising awareness and advocating for research that can lead to life-changing therapies. While we have faced many challenges in the effort to bring new treatment options to patients who desperately need them, today we can see a sign of hope for the ASMD community and for all patients living with Niemann-Pick disease.  

The U.S. Food and Drug Administration (FDA) has announced the approval of Xenpozyme (olipudase alfa) for intravenous infusion in pediatric and adult patients with ASMD. Xenpozyme is an enzyme replacement therapy that has been shown to help reduce sphingomyelin accumulation in the liver, spleen, and lung. The efficacy of Xenpozyme for the treatment of ASMD was demonstrated in a controlled study of 31 patients. Based on results from the study, the FDA was able to conclude that Xenpozyme is effective and that treatment helped to improved lung function and reduced liver and spleen size in patients.

NNPDF would like to take this opportunity to recognize the hard work of many people including regulatory and industry leaders who have made this milestone possible. We applaud Sanofi for their commitment to moving this program forward. We also want to emphasize that this approval would not have been possible without the patients and families who participate in clinical research and who use their voices and stories to raise awareness of the need for treatments and support.

More than anything, this life-changing moment is an example of what we can accomplish when we work together. Hopefully, this will bring new levels of momentum and dedication to promising research moving forward. The Niemann-Pick community is resilient and thanks to the bravery and persistence of patients and families, people living with ASMD in the U.S., Europe and Japan can now have access to an approved treatment.

We are so happy to see this amazing progress and will use this to fuel us on our journey to finding approved treatment options for all people impacted by all types of Niemann-Pick.

Supporting one another. Supporting our community.

In the Spotlight with Pam Andrews

Blog

Pam Andrews

Mom to Belle & Abby, NPC
Firefly Fund, Co-Founder and Executive Director

Tell us a bit about yourself.
My name is Pam Andrews. I’m a sixth generation Texan and was born in a small town just outside of Austin called Brenham, Texas. You may have heard of it before, as it’s the home of Blue Bell Ice Cream. My parents met when in graduate school at the University of Texas at Austin. My mom had just graduated from law school and the only job she could find after graduation (1972), as a new female attorney in Texas, was working as a secretary in a law firm in Brenham, Texas. I have three sisters (Lisa, Jessica and Leslie) and a brother (Sean, who passed away just seven months ago).  We didn’t stay in Brenham long and moved back to Austin when I was three years old. Growing up in the 70’s and 80’s was a bit idyllic, to be honest. My siblings and I would play outside with neighborhood friends for 6-8 hours at a time on the weekends. Our bicycles got us around and we walked to and from our neighborhood school during the week. My parents worked hard and a lot and my siblings and I looked after each other. I remember using a kitchen stool to make dinner for my sisters. I wasn’t tall enough to see the top of the stove so I would get a step stool and stand on it and make dinner that way. I was probably seven years old. My grandfather (and great grandfather actually) were both doctors in Ft. Worth, Texas and Alpine, Texas. Truth be told, that was really my only exposure to healthcare or the medical profession when I was growing up. Grandaddy made house calls, delivering babies at home and I remember that he pierced kids’ ears in his office. There was the occasional penicillin shot when someone was sick, but otherwise it was delivering babies and piercing ears. My father, later in my 20’s, was diagnosed with and died from Cancer. I definitely came to understand that people get sick. However, if you had told me in 1978 or even 1994 that I would later have two beautiful daughters who would both be diagnosed with a rare genetic neurodegenerative disease, I would have thought that you were certifiable. As a young girl, I would have never fathomed this life.

I live in Austin with my husband, Chris Andrews, our two beautiful daughters, Belle (12yo) and Abby (7yo) and our two miniature poodles, Lady and Lucy. For fun you will find me taking walks in the neighborhood with my dogs or hanging out in our backyard, by the pool with my girls, and spending time with the little family that Chris and I have made. The girls are filled with joy and laughter and they truly enjoy life and enjoy talking with people in their little lives and they laugh hysterically at each other’s wild antics. They love music and singing and being silly little girls. It is my greatest joy in life, and honor really, to be Belle and Abby’s mama. It is what I enjoy the most in life.

When did you receive Belle and Abby’s diagnosis and what led to this?
Belle was diagnosed first after a diagnostic odyssey that spanned several years and included countless appointments with doctors and specialists. Leading up to Belle’s diagnosis what concerned us the most was her tripping and falling, which seemed to be getting worse with each passing day. Belle’s platelets were also always low and her spleen was enlarged. Those were the early signs that kept me tossing and turning at night. And she developed a tremor at about 3yo. For years I was told that she was within the normal range and not to worry. I was a first time mom so I didn’t have a neurotypical child as a reference, but something inside of me kept nudging me to continue pressing for answers. My nieces and nephews and Belle’s friends would come over and I would talk with other moms and no one seemed to have the same types of symptoms that we were seeing.

Finally, we met with a young doctor who was also a mom – she agreed with us that something wasn’t right. Her name is Dr. Amy White and she is now on the BOD of Firefly Fund. Belle was about 4 1/2 at the time and Abby was about 9 months old.  Belle’s diagnosis was eventually made through whole exome sequencing. It was suggested that we test Abby immediately, she was 18 months old at the time and had absolutely no reason to believe that she also had NPC. It was terrifying. As you might imagine, our pain more than doubled with Abby’s diagnosis, just 10 days after Belle.

How did you learn about NNPDF?
We learned about the NNPDF really slowly after diagnosis. Initially, the day of our diagnosis, we were given a Make A Wish form and told to take the girls to Disney World and to enjoy them. The doctor made it clear that there were no approved drugs and nothing that could be done. The only information that was given to us was a one pager on NPC and the Make A Wish form. We left the doctors office and made some calls to immediately take steps to form the Firefly Fund. Initially, we thought we were going to have to figure it all out on our own. Over the course of the next few months we had countless calls with NPC families and researchers and clinicians. We were so relieved to learn from some of those early conversations with members from the NPC Community that there was a patient organization and several mature family-led, patient inspired organizations that had been funding research for over 25 years.  We began to feel the weight of the girls’ diagnosis lift. We realized that we didn’t have to do this by ourselves.

The NNPDF was in the middle of a transition when we were diagnosed. They were looking for a new leader and for a Board Chair. I think we first met Joslyn and Justin in 2018 and that is when we really began to get to know and work with the NNPDF.  It was through the newborn screening work that Firefly Fund does that I began to really understand the significance and importance of a national patient organization in a rare disease community. The NPC Community’s interactions with the healthcare stakeholders like the medical profession, with regulators, with public health officials, with drug developers and companies, all rely on a healthy patient organization. The work that the NNPDF does is vital to the overall success of the NPC Community.

Why is newborn screening important to the Niemann Pick community and what difference can it make in the future?
Newborn Screening is a public health service that reaches 4 million babies born in the United States each year. The newborn screening program ensures that all babies are screened for certain serious life-limiting conditions at birth, and for those babies with the conditions, it allows doctors to start treatment before some of the harmful effects happen. Newborn screening is performed soon after the birth of your baby, and in most cases, while you are still in the hospital. Specific protocols for newborn screening follow up vary from state to state, as does the list of conditions screened for.  

It is my opinion that newborn screening is the single most important public health program that exists worldwide. As Belle and Abby’s mom, I understand first hand the horror of watching your child slip through your fingers while searching for answers.  The diagnostic odyssey that NPC families are forced to travel is barbaric and unnecessary in 2022. Newborn screening will provide families with information about the health status of their newborn, which will allow for early intervention. We know, and there is consensus among NPC expert clinicians, that early intervention in the NPC patient improves health outcomes. Chris and I live this reality every single day in our home as we watch the trajectory of our two daughters’ lives go in two completely different directions due to the fact that one was diagnosed before any visible signs or symptoms of the disease and one was not.  

Shortly after our diagnosis, Chris and I sought out the counsel of someone who has become our dear friend and mentor, Dr. Philip Reilly. At the time in 2016, I’d just finished his book, Orphan: The Quest to Save Children with Rare Genetic Disorders and I wanted to hear his perspective regarding where he thought there were unmet needs in the NPC Community. Dr. Reilly was the first person to encourage us to focus on newborn screening for the NPC community. He wisely explained to us, from the perspective of a venture capitalist mixed with his experience as a clinical geneticist (he has a law degree, as well), that if NPC patients can be identified at birth then what will happen as a result is that NPC patients will have plenty of treatments in no time. He explained that newborn screening for NPC would accelerate the drug development process because we would be helping “them” to help us. 

In addition to finding our patients early, newborn screening is important to the NPC Community because it will help researchers and clinicians better understand the incidence and prevalence of the disease. And data collected through newborn screening pilot studies, such as ScreenPlus in New York, will help us better understand the heterogeneity of the disease and how the variability in onset of NPC patients impacts families and the public health system. Through newborn screening, we are essentially introducing a whole new disease to the medical community – doctors, hospitals, payors, drug companies, regulators, labs, and the list goes on.  We’ve all witnessed over the past two years the havoc that a new disease state can wreck on the healthcare system and for teeny tiny, ultra rare disease groups like NPC, the onus is on the NPC Community to demonstrate that we are ready to be in the public health service referred to around the world as newborn screening.  

The process is long and arduous. There is zero room for errors. We can not misdiagnose newborns. We have to demonstrate that our short and long term clinical follow up protocols improve health outcomes for those patients identified at birth. Once we are able to identify our patients early, before any visible signs or symptoms of the disease, we will see improved clinical trial outcomes, which will lead to therapeutic approvals and maybe even therapeutic options for our loved ones.  

How can families get involved with newborn screening efforts?
I think the most important thing that families can do is to look for ways to advocate for newborn screening for NPC at home. Every state health department has a newborn screening advisory committees and in all 50 states there are rare disease parents on those committees. I sit on the Newborn Screening Advisory Committee in Texas. As I mentioned earlier, newborn screening lists vary from state to state.  Ultimately, we will need NPC to be added to every single state newborn screening list. Right now, through ScreenPlus, the NPC Community is collecting evidence necessary to be added to these lists. Once we are added to the RUSP, which I believe can happen within the next 3-4 years, we will need to immediately turn our attention to the states. Anything that parents can do to ensure that NPC is “in line” for inclusion on the various state lists would be helpful. We will add this to the agenda for one of our upcoming working group calls. Please let people know that they can reach out to me if they are interested in joining.

Another thing that NPC families can do from home is sign up for the AllStripes sibling study where data is being collected and analyzed for health outcomes for siblings diagnosed at different points of disease progression. The evidence collected through the study will provide data to the newborn screening advisory committee that will decide if NPC meets the criteria for early intervention. It is really important that families sign up for this study and it can be done from the comfort of your home computer by clicking here.

What advice would you share with newly diagnosed families?
Don’t forget to breathe. Focus on the things that bring you joy rather than on the things that you can’t change or control. Don’t be afraid to pick up the phone and reach out to other families. Ask a lot of questions. If someone is upset with you for asking too many questions, ask more questions. You are not alone and you don’t have to travel this rare journey alone, if you don’t want to. Reach out to families that have traveled the road before you and allow them to share their experience, strength and hope with you. The NPC Community is resilient and strong and committed to moving NPC into a new and different public health paradigm. None of us can do this alone and thank goodness we don’t have to.

What are your hopes for the future for your girls and for the Niemann-Pick community?
Gosh, everyday my focus and hope for my girls is that they are happy and that they know with every fiber of who they are that they are loved and cherished and absolutely adored. I hope and pray that they know that their life has purpose and meaning far beyond their NPC diagnosis. I hope they never let their NPC diagnosis define who they are. I hope they laugh often and that they rest easy knowing that Chris and I will be there beside them on this journey every step of the way. I believe that in Belle and Abby’s lifetime we will be able to render NPC a chronic disease. We have the tools necessary to do this in the NPC Community now and I believe that if we all work together, we can accomplish this goal. I was talking to another NPC mom just yesterday and we agreed that finding a drug cocktail to render NPC a chronic disease seems like an easy feat compared to the education and awareness that is necessary for stakeholders to move NPC into the healthcare system. The good news is that we don’t have to do it all in one day, but rather one day at a time we need to keep putting one foot in front of the other and doing the important work that we’ve been called to do in honor of those who came before us, for our loved ones and for those yet to be born with an NPC diagnosis in their future.   

I believe that the NPC Community should feel proud of all that has been accomplished in the past 25 years. I look forward to seeing what transpires over the next 25 years.

Supporting one another. Supporting our community.