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July 2019 Newsletter

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July 2019


Board Chair UpdateFamily Support & Medical Conference
Coming Soon… Chrystelle Bougault Series
NNPDF Emergency Hardship Program

Spotlight  |  Newborn Screening  |  Clinical Trial Update
Upcoming Events  |  Fundraising & Awareness Events
Families Helping Families
  |  Stay Connected With Us


Board Chair Update

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Dear Friends and Families,

While I am the parent of a child with ASMD, I am committed to representing the entire Niemann-Pick community – both NPC and ASMD. Each of your board members shares this same sense of commitment to the entire Niemann-Pick community. In my role as Board Chair, I have the pleasure of engaging with all stakeholders in the Niemann-Pick community – the patients and families, our members and donors, the bio-pharma industry, our researchers and our clinicians. It has been incredibly encouraging to witness all members of our patient community working together for the purpose of changing the course of all Niemann Pick diseases. In a few weeks’ time, NNPDF will convene our annual Family Support & Medical Conference. We will bring together the largest gathering of patients affected by Niemann-Pick disease in the US, their families, and the experts in medicine, patient education, research, and family support.

Both NNPDF staff and board have worked tirelessly during our reinvention process.  With the completion of the NNPDF Reinvention in 2018, we are positioned better than ever to serve all of our community. Our dedicated, capable leadership and staff have worked diligently to develop and implement programs to support you including as our webinars, Emergency Hardship Program, Family Connections Chats series, and ongoing delivery of news and up-to-date information on Niemann-Pick disease scientific and therapeutic development.

You’ll find these services and more at this year’s conference, including the chance to take part in our Family Advisory Working Groups with industry partners. This is an important opportunity for you to share with the pharmaceutical industry your unique patient/caregiver perspectives and provide guidance about the Niemann-Pick Disease patient and family experience. For information on Working Group registration and the available stipends, click here.

I hope you’ll join me at our conference on August 15-18 in Bloomington. We have top national and international leaders in Niemann-Pick disease ready to share their knowledge and updates with you. Perhaps more importantly, we will have the chance to connect with each other, new families and returning ones, to assist each other in our journeys with Niemann-Pick disease. We are here to support you. Register today!

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Warm Regards,


Justin Hopkin, MD
NNPDF Board Chair

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NNPDF Family Support & Medical Conference

Only 6 days left to register for the Family Support & Medical Conference! Be a part of the largest gathering of patients and families affected by Niemann-Pick disease in the US, along with the experts in medicine, patient education, research, and family support.

We hope you’ll join us! Helping Hand stipends are available to help you get there, deadline is MONDAY to apply!

Special hotel rates are being held for conference attendees until July 24th and are going fast! For complete details on room reservations click here.

Your registration fee includes Thursday evening dinner, Friday and Saturday breakfast and lunch, and the Saturday evening Gala Event. Visit nnpdf.org/2019fc to learn more about the working groups, conference stipends, hotel reservations and to register.
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Coming Soon…

… A new series of articles by Chrystelle Bougault, PhD, member of the NNPDF Board of Directors. Chrystelle is a certified Clinical Research Coordinator with experience in clinical project management of Acid Sphingomyelinase Deficiency (ASMD) studies. She is currently a Project Manager at UC San Diego Altman Clinical and Translational Research Institute. In these roles she interacts with adult and pediatric patients and their families to ensure safety and improve patient care. In this series of articles, Chrystelle will share her broad knowledge about clinical trials, medical studies, and the clinic and hospital experience for patients and families.

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NNPDF Emergency Hardship Program

The NNPDF Emergency Hardship Program launched July 1st. This 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 familyservices@nnpdf.org. 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 $750 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.

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CLICK HERE TO APPLY

*Those with new diagnoses are eligible to apply if diagnosis was within 6 months of request.

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Becky McGuire

NNPDF Board of Directors
Cousin of Kelly Thompson, NPC

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Tell us a bit about yourself, such as where do you live and what do you enjoy doing.
I grew up in Bristol and New Hartford and graduated from Marist College, where I received a bachelor’s degree in public relations with a minor in psychology, and excelled in track and field, as a sprinter and shot put thrower. I hold a master’s degree in integrated marketing communications from Marist. I have worked in the non-profit sector for more than 13 years. As an accomplished gymnast through my high school years, I credit the sport with providing a strong foundation for my work ethic. In my free time, I enjoy running, cross-training and lifting, and spending time with my family. My husband, Brad, who is the Athletics Director at the Foote School, live in Torrington with our three children, Grady, Carson and Kenna, and our dog, Hallie.

When did your cousin receive her diagnosis? What led her to diagnosis?
Kelly was accurately diagnosed in 2005. This was after many misdiagnoses. Kelly was faced with some learning challenges while she was attending college and this is what started the process that much later led to her diagnosis.

What were the first steps you took after her diagnosis?
Education, for her and our family on what this disease was, how it would affect her and what kind of treatment was out there. First steps and every step is hard emotionally and physically but all we can do is take one step at a time and educate ourselves as much as we possibly can throughout this journey.

How did you learn about NNPDF?
We as a family found the foundation when Kelly was diagnosed. It was a resource of educational materials and a place to not feel so along in this rare diagnosis.

What caused you to get involved with NNPDF initially and how has being an NNPDF member benefited your family?
I initially and to this day am involved with the NNPDF because I think there is a bigger “to do” with this disease. It’s not only raising money for research for a cure but its awareness and love and support for those that are going through this. We also have a larger purpose of making others aware of this disease so they don’t spend as long finding the proper diagnosis. Educating the public and providing resources for those that are fighting this disease are benefits that our family received but also what we want to pass onto others.

What changes have you seen in the Niemann-Pick environment over the past 5 years?
The environment over the past few years has changed dramatically from my perspective. More people are opening up and being a voice for those that are fighting. The community has come together in a manner of support. It’s not a race to who will find the cure, it’s a collaboration of support, research, and resources for families.

What are your hopes for the future for yourself and for the Niemann-Pick community?
My hope is that the community continues on this trajectory of positive support and that we as a community learn to have empathy for every families’ journey. Everyone is fighting this disease in their own way and having mutual respect for one and other is key to being the safety net of overall support..

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Newborn Screening

An innovative Newborn Screening initiative for Niemann-Pick was the topic of NNPDF’s recent Community Webinar.  Allison May Rosen, of 3D Communications for the Firefly Fund, Dr. Melissa Wasserstein, of The Children’s Hospital at Montefiore’s Division of Pediatric Genetic Medicine, and Pam Andrews, Executive Director of the Firefly Fund, described the importance of newborn screening to the Niemann-Pick disease community, provided an overview of the Firefly Fund’s initiative for NPC, and highlighted a proposed pilot newborn screening study that would screen for Niemann-Pick disease.

“Newborn screening is a critical matter of public health,” explained Allison May Rosen.  “Early diagnosis and proper treatment can make difference between lifelong impairment and healthy development.”  While the Firefly Fund’s Newborn Screening Initiative is focused on adding NPC to the federal government’s Recommended Uniform Screening Panel (RUSP), the pilot study being developed by Dr. Wasserstein would include both NPC and ASMD on its screening assay, along with other lysosomal storage disorders.  ASMD is currently screened for in several US states but is not included on the RUSP.

The webinar, part of NNPDF’s Community Webinar series highlighting important community issues and topics, was especially timely given that the Newborn Screening Saves Lives Act, HR 2507 is up for reauthorization in Congress.  To learn more about this legislation or to see how easy it is to email your Member of Congress and ask him or her to cosponsor this bill click here.

For more information on newborn screenings click here.

To view the NNPDF Community Webinar (again), visit nnpdf.org/webinar-nsi.

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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.

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Check out our Upcoming Events page at
nnpdf.org/news-media/upcoming-events/.

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27th Annual NNPDF Family Support & Medical Conference

August 15 – 18, 2019
Bloomington, Minnesota
Optional Working Groups will be held on August 15th
from 10:00 am – 3:00 pm
CLICK HERE to register today!

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Fundraising & Awareness Events

Contributions through fundraising by NNPDF members, families and friends are used to provide services and information to individuals and families affected by NPD, as well as supporting research into finding treatments. Please continue to host and support NPD fundraisers. Awareness Events promote awareness to the general public about Niemann-Pick Disease. Click here to view current and past fundraising and awareness events.
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Upcoming Fundraiser

Judy Desouza will be hosting a Yankee Candle fundraiser in memory of her daughter, Bryanna (NPC) and in honor of all Niemann-Pick Disease families. Judy, in working with Yankee Candles, will dedicate 40% of profits from both local and online orders to the NNPDF. This fundraiser will begin July 11th and run through January 8, 2020. Click here for complete details.
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Facebook Fundraisers

THANK YOU to those of you who have already hosted a Facebook Fundraiser! Are you interested in hosting? It is a great opportunity to raise awareness and funds for the NNPDF. If you are hosting a Facebook fundraiser please email the NNPDF Central Office at nnpdf@nnpdf.org to let us know.
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Have you hosted a fundraiser for NNPDF recently?

Send us your photos and we’ll share them and details from your event in upcoming newsletters! Click here for information on hosting a fundraiser..

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Families Helping Families

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. Click here for more information and to view all items currently available.

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Stay Connected With Us

A quick reminder that if you are not receiving our NNPDF monthly newsletter via email or have recently changed your address or email, please click here to join us or to update your information.