April 2019 Newsletter
NNPDF Family Support & Medical Conference
In the Spotlight | Industry Update Webinar Series
NNPDF In Action | National Volunteer Week
Newborn Screenings Initiative | Clinical Trial Updates | Legacy Story
Upcoming Events | Families Helping Families
PALS Patient Airlift Services | Stay Connected With Us
The National Niemann-Pick Disease Foundation (NNPDF) is pleased to invite you to the 27th Annual NNPDF Family Support & Medical Conference, “Where legacy, innovation, and hope come together” from August 15 – 18, 2019 at the Hilton Minneapolis/St. Paul Airport Hotel in Bloomington, Minnesota.
Over the past several years you have been a part of the journey while NNPDF grew from a volunteer-led family foundation to a professionally-led national patient organization. This new direction has opened up many opportunities for you as a community and led to the planning of a robust, engaging and interactive conference agenda, with more family-to-family time and deeper discussions, with topics specifically designed to assist you on your journey.
This year we will also hold Working Groups on August 15th from 10:00 am – 3:00 pm, prior to the official start of the Conference that evening. The Working Groups are an opportunity for community members to share their insights and experience with our Industry partners in small-group, structured sessions. These Working Groups are optional and will take place before the Conference begins. Stipends will be available for participants, which may be used in combination with our Helping Hand stipend. Complimentary care and activities will be provided in our Activity Zone during the Working Group sessions. Space will be limited, so be sure register for an opportunity to participate.
Your registration includes:
- Information Sessions: The Regulatory Process, Current Clinical Trials, Innovative Research in NPD, Insurance and Government Benefits, Newborn Screenings, and more.*
- Family Services Break-Out Sessions: NPC Adult-Onset, NPC Juvenile Onset, ASMD, Facilitated Sibling Support, Teen Patient to Patient Support, Anticipating and Navigating Grief, Legacy Loss Support, Open Discussion with NNPDF Family Services, and more.*
- Optional Working Groups: Taking place on Thursday, August 15th, 10:00 am – 3:00 pm. This is an opportunity to share patient and caregiver perspectives with our Industry partners. Separate registration is required and space is limited.
- Activity Zone: Complimentary care and activities for children and young adults of all ages.
- Meals: Thursday evening dinner, Friday breakfast and lunch, and Saturday breakfast, lunch and Gala Event.
*Topics subject to change
Once a year we have this special time to meet in person and connect with friends who truly understand the struggles related to Niemann-Pick Disease. Families have shared that the annual family conference is a unique opportunity that helps them to reconnect and build stronger bonds with one another. We hope that you will join us this year for a time of support, encouragement and knowledge.
Registration and hotel information can be found at nnpdf.org/2018fc. Please be sure to register and remit your conference fees by June 27 for the best rate.
NNPDF Family Services Director
Tell us a bit about yourself, your background and your experience prior to the NNPDF.
I first began working in rare disease family support organizations in 2000. Before coming to the NNPDF, I spent 15 years with the National MPS Society as the Program Director. Growing up, my family owned a vehicle adaption business. It was then that I first began to understand how helping others in need can dramatically change their circumstance. Helping others has always been a part of who I am. I live in Maine with my husband and two daughters, we enjoy spending time boating and exploring our beautiful coast.
What are some common challenges faced by families in the rare disease community, based on your experience having led Family Services programs in this area for the past 15 years?
When families first learn of the diagnosis, it is often bitter-sweet – finally an answer, but in all honesty, an answer you wish you never had to receive. Learning the disease information is difficult, learning how to become the expert, learning how to navigate the system, and maybe the most important, learning your new normal. You will become the expert and you are stronger than you think. In rare disease, it is common for your local physician to not have disease experience and it is difficult to understand that your doctor may not be as knowledgeable about the disease as you hoped. I have learned that you can be an amazing teacher and your doctor will become knowledge because of the information you can share. You are the captain of your medical team. The reality among rare disease families is that you are now a member of a small group of amazing people, all brought together by a common diagnosis. The people you meet because of the diagnosis will become a part of your family.
What are the first steps a family can take after diagnosis to find support?
I am a firm believer in gathering as much information as possible, researching and gaining disease knowledge and “opening all the doors” available. There will be many decisions that will be made, and it is important to be educated in order to make the best choice for your family. The choice will always be the best choice, not the right choice, not the wrong choice, always the best choice. Gathering all the information available will allow you to make the best choice.
When a family contacts me at the NNPDF, I first try to make a telephone contact. It is so much easier to communicate via phone than emails. As we talk, I learn where you are at in the diagnostic odyssey and how long you have been searching for answers. I learn what medical specialists you are already connected with and can offer suggestions to make sure you are getting all the appointments and services necessary. I share current up-to-date information on clinical trials and expanded access programs and offer connections to physicians and their teams at NPD Centers of Excellence.
I hope that over the course of our time together (which may be many calls during those first few weeks) the NNPDF can help you gather as much information as possible. Allowing you to be educated and informed is my first goal. Your enrollment with us ensures we can keep you informed of current up-to-date information and also provide information on experimental treatments as they become available. We have a robust network of experienced patients, parents and caregivers waiting to help families during all phases of the journey. It is important to remember that others have walked this path and are more than willing to share experiences and helpful hints with you.
What do you think is unique about the NNPDF that you wish more families knew?
The NNPDF is a phenomenal organization which recently has seen tremendous growth and the energy and excitement continues to grow with each new program we implement. The NNPDF is your one stop shop for disease information, education, and support for all phases of the NPD journey. Please stay connected and encourage others to become members so they too can receive our supports.
What programs are available through NNPDF’s Family Services?
The NNPDF is able to provide a wealth of resources and guidance and some days even more important, we are here to listen. Whether you need some information for yourself, or information to share with your medical team, we can help with up-to-date clinical trial information, direct 1:1 calls, our Family Service Connections Chats and webinars, like our recent NNPDF Industry Update Webinar Series. We’re also planning even more family support break-out sessions for this year’s Family Support & Medical Conference, and a few new programs that are launching soon!
How can patients and family members contact you? What are your hours?
You can reach me via email at firstname.lastname@example.org or telephone at 603-413-8707. I am typically in the office Monday, Wednesday, Thursday and Fridays 8:00 am to 3:00 pm, however I am more than willing to connect during other hours and evening hours as well.
This month we featured 2 more webinars in our NNPDF Industry Update Webinar Series. Thank you to Sanofi Genzyme and IntraBio, Inc. for your participation in April in this important Niemann-Pick community event. While these webinars are designed to provide the latest clinical and industry updates to the U.S. Niemann-Pick community, we have been thrilled with the interest shown by the international community. Each webinar recording has been shared with the member organizations of the International Niemann-Pick Disease Alliance (INPDA). We’ve had viewers from throughout the U.S., across Europe, and as far away as Australia join to watch the presentation and Q&A live or following the event to view the recording!
We are happy to provide a forum for so many of you to join us and we will continue to provide this forum for future webinars. If you have any suggestions of topics of interest, please share them with Laurie Turner, Family Services Director at email@example.com.
Watch for upcoming webinars or view past webinar recordings at nnpdf.org/news-media/webinars/.
Justin Hopkin, Board Chair, joined Kara and Evren Arik in St. Louis, Missouri to speak with Sanofi Genzyme employees at their manufacturing site about the impact of ASMD on their lives and the NNPDF’s role in the patient community.
The impact of volunteer service was recently celebrated during National Volunteer Week during the month of April. NNPDF community volunteers are essential in the progress of Niemann-Pick Disease awareness and your NNPDF organization!
Members of the NNPDF Board volunteer selflessly to serve in these vitally important roles.
Scientific Advisory Board members advocate for your cause.
Family conference leaders and helpers give their time tirelessly and unconditionally.
Friends and family members volunteer to raise funds that contribute to Niemann-Pick Disease research and your family organization.
Families give their time in simply supporting one another through the trials and struggles that Niemann-Pick disease brings. Your community is growing stronger because of all of you!
We’d like to acknowledge each of you who have generously given your time and energy to keep your NNPDF family support organization moving forward. We truly appreciate and THANK YOU for all you do!
Have you ever heard of baby’s first test? In every state across the nation, hours after birth, infants are tested for a limited number of harmful or potentially fatal disorders that aren’t otherwise apparent at birth. A simple blood test can inform families whether their newborn has a certain condition or not. And when a screening comes back positive, clinicians inform families about the possibility of their newborn having a rare disease. While certainly unexpected, knowledge can bring power. Early diagnosis and treatment can sometimes make the difference between lifelong impairment and healthy development.
Today, however, even though technology exists to detect the disease at birth, NPC is absent from our nation’s newborn screening programs. NNPDF is proud to be joining the Firefly Fund’s NPC Newborn Screening Working Group, focused on advancing the cause of newborn screening for NPC. This multi-disciplinary stakeholder Working Group includes NPC researchers and clinicians from academic centers of excellence and the NIH, representatives from several NPC family foundations, key industry partners, and NPC advocates. While diverse in expertise, the Working Group has a common goal: to advance the cause of newborn screening for NPC and solidify its inclusion on the federal government’s Recommended Uniform Screening Panel (RUSP). The RUSP is the gold standard states look to when selecting conditions to include in their public health screening program.
NNPDF looks forward to working on this critical endeavor, helping to accumulate scientific evidence that demonstrates the positive public health benefit of routinely screening all newborns for NPC. While there is still much unknown about this ultra-rare disease, there is general consensus regarding the value and importance of early diagnosis. Such a change in the disease paradigm would enable clinicians and families to determine much earlier how and when to intervene. And, hopefully, to improve patient outcomes.
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.
It’s been 7+ years since I wrote the following article. A lot has changed. We have a daughter who is a carrier. There are more treatment options available with several clinical trials underway. Two of the physicians we worked with are now involved with the clinical trials. But so much hasn’t changed. Many families still face a long road to diagnosis. There is no cure. Newborn screenings still don’t test for NPC – although there is a new initiative to change that. Many families don’t know there is a community of other families ready and willing to be an ear and provide support and suggestions. If you are newly diagnosed, please find a family to talk with. Once you find one, you will find others. We are here to share our knowledge and experience.
Jill’s article titled “What You See and What You Don’t: Diagnosing Niemann-Pick, Type C” was originally published by Complex Child E-Magazine on 11/28/2011.
Check out our Upcoming Events page at nnpdf.org/news-media/upcoming-events/
Community Webinar: Featuring NPC Newborn Screening Initiative
Wednesday, July 10, 2019
5:00 pm EST/2:00 am PST via Zoom video
CLICK HERE for registration information.
NNPDF Family Support & Medical Conference
August 15 – 18, 2019
Optional Working Groups will be held on August 15th
from 10:00 am – 3:00 pm
Click here for information – Registration is Open!
Family Support Program of the NNPDF
The NNPDF Families Helping Families program offers assistance to NPD families who wish to donate supplies and gently used equipment to other NPD families in need. Our goal is to ensure that all NPD families have access to the equipment or supplies that they may need to assist their loved ones affected by Niemann-Pick Disease. The foundation posts a description of equipment or supplies available and facilitates any equipment requests. This page is also a great resource for adaptive equipment, appliances and more! Click here for more information and for new items available.
What is a Free PALS Flight? It’s…
…a child’s chance for survival by accessing out-of-state medical care
…another chemotherapy session for a mother of four
…an opportunity for a wounded veteran to access treatment
…tens of thousands of necessary medical supplies in the wake of a natural disaster
…the chance for a child with a life-threatening illness to attend an illness-specific camp & more
These are just a few of the reasons individuals contact Patient AirLift Services (PALS) to request a free PALS Flight. PALS is a 501©(3) non-p
rofit charitable aviation organization that arranges free flights in the greater Northeast region through their volunteer aviation community for individuals requiring medical diagnosis, treatment or follow-up, for compassionate assistance, for military requests through the PALS for Patriots Program, or for humanitarian purposes through our PALS Sky Hope Disaster Relief Program.
The PALS network of volunteer pilots and aviation partners donate their time, expertise and aircraft, receiving no compensation. It’s their way of paying it forward. Their pilots and partners meet a series of rigorous qualifications and safety standards to ensure that their passengers are safe and in good hands. PALS is the catalyst in connecting patients with a giving aviation community, opening doors to treatment.
PALS began in 2010 in response to the growing population of people in the Northeastern United States with life-threatening or chronic medical conditions needing compassionate transportation to their out of town or out of state medical appointments. PALS was previously known as a volunteer pilot organization and it is now termed as a charitable aviation organization encompassing general aviation, business aviation, commercial partners and corporate aviation partners; the only one of its kind in the country, with a national service area. PALS takes each request on a case by case basis. In 2017 PALS flew 2512 flights, serving passengers in 43 states with 30% of those flights being for children.
Our Mission Coordination Center processes the patient intake form and responds to the request within 24 hours. A minimum of 5 business days is requested from the time of the scheduled medical appointment. The mission coordinator then arranges and schedules flights with available aviation assets in the geographical area of the medical appointment and arranges for ground transportation if needed. There is no limit to the number of flight requests patients may make, and there is never a cost for our services to patients who come to us for help. With over 19,000 passenger flights flown to date, PALS is grateful to our growing number of aviation volunteers and donors for making our mission of connecting the charitable aviation community to people in need a true reality.
For detailed information visit www.PALSflight.org or contact Jamie Newberry at 631-694-7257.
Jamie Newberry – Outreach | Patient Airlift Services
7110 Republic Airport, Suite 202 | Farmingdale, NY 11735
O. 631-694-PALS (7257) | F. 631-755-2184 | www.PALSflight.org
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