A blog about the grief after losing a child to Niemann Pick, Type C, a rare disease, and how I'm moving forward with my life.

Friday, August 30, 2013

Understanding Rare Disease Registries - Part 2

RARE Webinar Series: Understanding Rare Disease Registries

Global Genes will be hosting a series of webinars in 2013 geared towards educating and empowering our RARE community.
Understanding Rare Disease Registries
Part 1: July 31st, 2013 – 11:00 am PT – recorded webinarPDF slides
Part 2: October 23, 2013 – 11:00 am PT – Register Today!
(each part requires separate registration)

The Patient Registry is now recognized as a vital tool in the process of drug development, evaluating the safety and efficacy of therapies, connecting patients and families affected by rare disorders, and as a research and educational resource. Recently, there has been a significant surge in registry building activity among the multiple stakeholders in the rare disease community. However, it is important to have a clear understanding of design, implementation, and resource considerations that are the foundations of a successful registry.
Global Genes will present a two-part webinar series entitled “Understanding Rare Disease Registries,” which will cover the topics that every organization involved in planning a registry should consider.

Part One – Wednesday July 31, 2013, 11:00 am PT
(recorded webinarPDF slides)

Part One of the series will cover the different types of registries and features of a robust patient registry, as well as options currently available for building a new registry or enhancing an existing one. The expert panelists will discuss resources for questionnaire design, collecting natural history information, considerations for drug development and the FDA, and informed consent and data sharing.
Panelists include:
Part Two – Wednesday October 23, 2013, 11:00 am PT
Part Two will include a demonstration of available registry platforms, and will explore selected topics in greater depth, including questions or issues submitted by participants during Part One of the webinar series.
Moderator:  Dr. Shira Kramer, Epidemiologist and President of GlobalEpi Research

Sponsored by:

Thursday, August 29, 2013

2013 RARE Patient Advocacy Summit

Copied from: http://globalgenes.org/2013-rare-patient-advocacy-summit/

Register for the free webcast even if you can't attend the entire day so you are notified when the videos are posted.

Come join us for our 2nd Annual “RARE Patient Advocacy Summit
to be held on Friday, September 20, 2013
at The Balboa Bay Club & Resort in Newport Beach, CA.
Seating is limited for in-person participation.
Webcast registration available for those unable to attend in person.
From Symptom to Cure:  The Journey of a Rare Disease Advocate ~ Equipping Patients to Make a Difference
Join Global Genes | RARE Project for a unique and interactive educational experience at our 2nd Annual Patient Advocacy Summit on Friday, September 20, 2013.   There is no charge to participate in this event.
A rare diagnosis changes everything. It crashes plans and dreams, knocks you off your feet, and requires a continual investment of time and money as you try to determine what should be your next step.  The purpose of the RARE Patient Advocacy Summit is to help patient ADVOCATES become successful ACTIVISTS and to provide the discussion, insights and tools to move down this advocacy path, equipped and prepared.
The summit will offer practical advice, case studies and networking opportunities as we learn from one another.  The goal is to have patient advocates walk away with a better understanding of the challenges they will face and where they can be most effective in helping advocate for their disease/disorder.
Attendees will:
  • Learn how to get started: obtain 501c3 status, write grants, leverage PR effectively and utilize social media to spread your message.
  • Collaboration: Understand how to successfully work with other rare disease stakeholders, patient advocates, the FDA and other government entities.
  • Learn the importance of patient registries, the different types of registries and how advocates can support them.
  • Explore the role of foundations and advocates related to scientific discovery and drug development.
  • Gain a broad understanding of the scientific process, including diagnostic and research methodologies and collaborations with academia and industry.
At the end of this day-long event, each participant will gain perspective on the complexities and questions that need to be considered in order to become effective advocates for the rare disease patients and help advance therapies in the rare diseases we represent.
Who Should Attend:
  • Rare disease patients, caregivers, family members and friends
  • Patient advocates
Whether you are new to this rare disease journey or an experienced traveler, an individual advocate or part of an existing rare disease organization, you will gain value from this event.
Sponsor Information
To become a sponsor or for more information, please contact Nicole Boice.  We look forward to seeing you at this year’s summit.

Thursday, August 22, 2013

Still missing

I know it has been awhile since I wrote but there have been some exciting events which I will share shortly. I haven't forgotten about my blog followers.  I have been using my cell phone for my online connection lately so I have trouble posting anything but written text.  So please bear with me for another week or so.  I have quite a few posts I want to share.

Monday, August 12, 2013

NPA Angel

Sadly, we were informed that Quinn Madeleine Linzer lost her fight with Niemann-Pick Disease on August 9th, 2013, at the age of 15 months. 

Many will know her for the To Do List her parents put together for her, many of which were crossed off thanks to the help and support of her community and those who she has touched with her story. Those close to her will remember her for her shy smile, infectious squeaking giggle and her unwavering ability to be happy despite her illness. 

For service and visitation information: Click Here
To express condolences and share memories: Visit the Linzer Family Blog

May the family and friends of Quinn find the strength they need to move on in the days, weeks and months ahead. Please know that all the families and friends of the National Niemann-Pick Disease Foundation are with you all in your hearts and in grief.

Saturday, August 10, 2013

NPC angel

Mario Ismael Najera 
09/13/2001 ~ 07/24/2013

Mario Ismael Najera (NPC)

Mario Ismael Najera lost his fight with Niemann Pick Disease on July 24th, 2013, at the age of 11. He was surrounded by family and passed in the arms of his parents.

Mario's parents, Mario & Natalie, described him as the answer to their prayers.  He enjoyed listening to music, watching movies, dancing and spending every waking moment with family and friend. He was loved by all who met him and will be greatly missed.

May the family and friends of Mario find the strength they need to move on in the days, weeks and months ahead. Please know that all the families and friends of the NNPDF are with you all in your hearts and in grief.


When I posted the picture of the NPD angels, I added Mario's name to the list.  I first heard about his passing as we were driving to Baltimore for the conference.


I'm sorry to have been missing from the blog world for a bit.   I have had quite a few things going on. Some very happy, some very sad, and some just parts of life.  So in multiple posts over the next few days, I will provide updates to my favorite readers.


So off to compose a few posts.

Friday, August 2, 2013

NPD Angels

Lily Anna Beaupre, NPA, age 3
Jacob Lee Brooks, NPA/B, age 2
Joseph "Chase" Jackson, NPC, age 12
Raiden Dwayne Linkous, NPC, age 16
Dana Jesse Marella, NPC, age 19
Gregorio Noel Martinez, III, NPA, age 5
Riley Gene Robbins, NPA, age 2
Taylor Marie Waiters, NPC, age 11

Not pictured:
Mario Ismael Najera, NPC, age 11