NNPDF May 2014 e-Newsletter

Dear NNPDF Families and Friends,

Here's the e-Newsletter you've all been waiting for! Highlights include:

• Family Conference hotel registration, Family registration form and helping hand stipend now online!
• Family Conference tentative agenda, important dates and deadlines.
• Meet Lee Ann Keener, Clinical Nurse at the National Institutes of Health!
• Current Research Updates from: 

• Dorthea Maetzel, Ph.D. 
• Charles Vite, D.V.M., Ph.D
• Stephanie Cologna, Ph.D. 
• Lluis Samaranch Gusi, Ph.D. 
• Andrew Munkacsi, Ph.D.
• Rare Disease Research ~ Clinical Trial for Niemann-Pick Type C.

Visit the Newsline to view the e-Newsletter: http://www.nnpdf.org/NewsLinePage.html#MayNews

22nd Annual Family Conference Info Coming Tuesday, May 20th!

Dear NNPDF Family and Friends,

This is a heads up to make sure you check your e-mail next week if you've been looking for an update on the upcoming Family Conference. Tuesday,  May 20th, 2014 our monthly e-newsletter will arrive in your inbox and will provide you all the information you've been waiting for, including a NEW registration feature for 2014:

• Embassy Suites online hotel registration information & link!
• NEW for 2014 - Online registration and helping hand stipend forms!
• Additional links to help you decide what to do while in San Francisco!

We're also mailing out conference packets next week as well if you'd prefer to fill out your forms and mail them in.

Get excited for this year's conference, as we certainly are in the planning process!  We hope to see you all in San Francisco!!

Visit the Family Conference page for the latest updates as they become available: http://www.nnpdf.org/familyservices_03.html

Funded NNPDF Fellow Dorthea Maetzel NPC1 iPSC Paper and Press Release

Dr. Dorthea Maetzel

Dear NNPDF Families and Friends,

The National Niemann-Pick Disease research advocacy groups of the United States and Canada (The National Niemann-Pick Disease Foundation and Canadian Chapter of the National Niemann-Pick Disease Foundation, respectively) are pleased to share with the wider NPD community the publication of the funded fellowship work of Dorthea Maetzel at the Whitehead Institute.

Visit the Latest Research page on the website to view the research papers: http://www.nnpdf.org/npdisease_14.html#Maeztel

We want to congratulate Dr. Maetzel for her exemplary efforts and talents!

Mariarosa Assunta Martino - 02/28/1985 ~ 05/08/2014

My Dearest NNPDF Families,

It is with deep regret that I pass along word as to the death of Mariarosa Martino ~ NPB. Our entire NNPDF community is simply heartbroken to learn that Mariarosa Martino passed away earlier this week. We are awaiting an update from her family but understandably they are overwhelmed at Mariarosa's passing and are devastated by her death.

Visit the Newsline for all the information: http://www.nnpdf.org/ASMDNews.html#MariarosaMartino

We are holding Mariarosa, her family, friends and all who loved and cared for her in our thoughts and hearts. With heartfelt sympathies to all who had the opportunity to know and love such an inspirational, loving and beautiful young woman.

Mariarosa's family has kindly asked that donations in her Memory be made directly to: http://www.nnpdf.ca/donorinfo_06.html

The Canadian Chapter of the National Niemann-Pick Disease Foundation

c/o Tammy Vaughan, Chair 

P.O. Box 302 

Durham Ontario N0G 1R0

~ Nadine

Happy Mother's Day Greetings to All!

Hello Dearest NNPDF Families and Friends,

This Sunday, our NNPDF families will gather together with their loved ones to celebrate their “Mom’s” and to honor them for the enduring love and spirited care which they provide for cherished children. 

For the families of the NNPDF, Mother’s Day can be a roller coaster of emotions and soul-crushing heartache. 

“Mom’s” who have lost their precious child(ren) physically ache to hold their baby one more time and struggle with their identity as a mother and parent.

“Mom’s” caring for their medically fragile child(ren) push themselves to live in the moment and recall every precious smile, giggle and detail, never knowing if this will be the last Mother's Day with their affected child. All while dealing with the heartbreaking grief for all that was lost on that dreaded day the diagnosis was given.

“Mom’s” of adult child(ren) living with Late Onset NPD agonize about their future and struggle with the thoughts of what will happen when mom and dad are no longer able to provide the same loving care and support. 

For all of our special super “Mom’s” in the NNPDF community, we wish you a day filled with the delightful memories and unending joys of your children and loved ones. For all you do and continue to do, you are truly unsung heroes today and all year long.

Happiest of Mother’s Day Greetings to you All!

Please follow the link below for a letter to a Special Needs Mom, whose child is unable to write or say the words that any Mom longs to hear……

A Mother's Day Letter For A Special Needs Mom

~ The National Niemann-Pick Disease Foundation

Shop for Mom to Benefit the NNPDF!

Dear NNPDF Families and Friends,

This is just a reminder that while you're shopping for Mother's Day, that the National Niemann-Pick Disease Foundation Store has access to not only Awareness items, but to popular stores (via iGive, Amazon Smile and GoodShop) that will send a percentage of your Mother's Day purchases back to the Foundation! 

Visit the NNPDF Store for great Mother's Day ideas! 

Update: TEAM NPC ~ Winner’s All Around!

Dear NNPDF Families and Friends,

The NNPDF is please to send along kudos and a HUGE thank you to all who supported TEAM NPC to raise over $17,500 toward NPC research and to garner the “dollar for dollar” match from the University of Pennsylvania in their Million Dollar Bike Ride! The current total is at $17,600 with funds still trickling in, which translates to $35,200 raised for NPC research at this single event!

A very special thank you to the three key families who spearheaded this event, Coppola, Mayo, and Reedy ~ and all those who participated in the race.

Patients, families, researchers and doctors and community members ALL came together for a common cause and a common goal towards NPC research.

We WILL Persevere in our Quest for a Cure!

Million Dollar Bike Ride ~ 1 Day Left to Meet Dollar for Dollar Match!

Dear NNPDF Families and Friends,

We're 1 day away from the Million Dollar Bike Ride where three families (Mayo, Reedy & Coppola) will ride to raise funds for NPC Research! The University of Pennsylvania will only match $1 for $1 what is raised if the team acquires the minimum $17,500, which we are just shy of that mark by $1,639.

Let's support these families and take this amazing opportunity to not only honor all our loved ones diagnosed with Niemann-Pick Disease Type C but to make a difference in research. A Dollar for Dollar match is within our reach! Keep the momentum going!

Donate now to: http://donatenpc.com/

Also of Note: The NNPDF is currently funding Dr. Charles Vite, who has the NPC Cat Colony at the University of Pennsylvania School of Veterinary Medicine: http://www.nnpdf.org/npresearch_05.html