October Awareness - Vision of Hope

The National Niemann-Pick Disease Foundation has been around for 25 years, providing support to families and funding promising research.

In recognition of that, the Vision of Hope Campaign is encouraging donations of $25 in recognition of the 25 years.

In addition, I am giving 25% of all Jamberry sales during October to the NNPDF.

And I can't forget about the information squares for this week:

It's October - Post 4

Did you think I would forget about Niemann-Pick Disease Awareness Month? Absolutely not!  This disease has had an impact on my life in many ways.

So here are 5 Quick Facts.  Feel free to share this blog post and increase awareness.  If you are able, financial contributions are always welcome at http://nnpdf.org

It's October - Post 3

Did you think I would forget about Niemann-Pick Disease Awareness Month? Absolutely not!  This disease has had an impact on my life in many ways.

So here are 5 Quick Facts.  Feel free to share this blog post and increase awareness.  If you are able, financial contributions are always welcome at http://nnpdf.org

It's October - Post 2

Did you think I would forget about Niemann-Pick Disease Awareness Month? Absolutely not!  This disease has had an impact on my life in many ways.

So here are 5 Quick Facts.  Feel free to share this blog post and increase awareness.  If you are able, financial contributions are always welcome at http://nnpdf.org

It's October

Ok, so we are over 10 days into the month.  Did you think I would forget about Niemann-Pick Disease Awareness Month? Absolutely not!  This disease has had an impact on my life in many ways.

So here are 5 Quick Facts.  Feel free to share this blog post and increase awareness.  If you are able, financial contributions are always welcome at http://nnpdf.org

In Memory

A New Angel

I really hate writing these posts.

It is with great sadness that tell everyone that Mariarosa Martino, an adult with Niemann Pick Type B died last week after complications from a recent surgery.  Her obituary and a place for condolences is here: http://www.mhfh.com/martino-mariarosa-assunta/

I remember meeting Maria at the NNPDF conferences.  She also purchased some jewelry during my fundraiser for Dan last year.

Mariarosa on the left, Rebecca on the right

Rebecca White, a fellow Niemann Pick mom, was creating a book of Niemann Pick families.  Mariarosa shared the following with Rebecca:

I was diagnosed with Niemann Pick Type B when I was 3 years. I am currently 28 and have been managing this condition my entire life. Niemann Pick has affected me physically, emotionally and spirituality. Physically, I have an enlarged liver and spleen, weakened immune system, chronic fatigue, & osteoporosis to name a few. This condition has made me question my self confidence and my life purpose. I have felt despair, pain but most of all hope. It is through acknowledging and accepting how this disease has affected me, I have been able to embrace my true self and purpose. I have learnt the importance of people, compassion, humility, love, strength in self-love, and strength in accepting this disease as a part of me and not defining me. I have learned to embrace my true self which includes expressing grateful to wake up each morning and embrace the beauty of the sun. It has taught me to be present today and not to be consumed by the past or future, to have the courage to accept the things I can not change, learning and realizing that a good life is not measure in time, money or materials but in being true to who I am. I dedicate myself in helping other by sharing my story, being open to all life experiences. I have learned that my body is just a vessel and that though I have this disease, it is my body that is sick and not my spirit. It is when I have been most ill I have learnt my true strength and the strength of humanity. It is this disease that though not upon anyones choice has brought a community of amazing spirits, souls and individuals that have left their imprints upon the world that very few every leave. I continue to strive for a cure for all of us affected and am dedicated to continue raising awareness. I owe my ability to persevere to those written within this book because it is their stories that continue to fuel my courage.

Niemann Pick Angels

For Those We Lost in 2013

http://npdf.blogspot.com/2013/12/for-those-we-lost-in-2013.html

Summary of October Niemann Pick Disease Awareness Posts

October was Niemann-Pick Disease Awareness Month.  Here is a recap of my posts:

Angels

Another NPC Angel

An NPC Angel

 Niemann Pick Angel

The Face Of Niemann-Pick Type A

Research 

 Type B Clinical Update

Type C Clinical Update

Research Team for Niemann-Pick Types A and B

Research is Hope of the Future

Drug Development and Regulatory Approval

 

Awareness

How to Spread Awareness Year Round

Awareness Videos 

Niemann-Pick Article in Neurology Now

A Rainbow of Colors

Kids Awareness Contest

Show Your Support for Niemann-Pick

Who we are

Adult Onset Niemann-Pick Type C

Living With Niemann-PickType B

Where We Were And Where We Are

Siblings Are Affected Too

The International World

Type B Clinical Update

October is Niemann Pick Disease Awareness Month

The following was copied from the NNPDF website:

Genzyme, a Sanofi company, is pleased to update the Niemann-Pick disease patient community on the progress of efforts to develop a potential therapy for acid sphingomyelinase deficiency (ASMD, also known as Niemann-Pick disease Types A and B).

A Phase 1b clinical trial in Niemann-Pick Type B patients is ongoing to evaluate the safety and tolerability of an investigational enzyme replacement therapy recombinant human acid sphingomyelinase (rhASM). Five adult patients are enrolled in the trial at two study centers, Mount Sinai in New York, NY, US, and St. Mary’s Hospital in Manchester, UK. 

An infused protein-based product, rhASM, is being evaluated in this trial for the treatment of the non-neurological manifestations of ASMD. Each patient in the trial is receiving rhASM once every two weeks, beginning at a low dose (0.1 mg/kg dose) and gradually increasing to a maximum dose of 3 mg/kg. The trial will be completed in January, at which point the data will be reviewed and analyzed.

In addition to the ongoing Phase 1b clinical trial, we continue to make progress preparing for a Phase 2 trial to evaluate the safety and efficacy of different doses of rhASM when administered once every two weeks for one year. The Phase 2 trial is planned to start in Q1 2014. It will be a multi-center, international, 1-year trial of the safety and efficacy of rhASM in 15 adults with Niemann-Pick disease Type B. We plan to open clinical trial sites in the US, UK, Germany, Italy, France, Chile, Brazil, and potentially other countries. No sites have been activated yet.

Where We Were and Where We Are

October is Niemann Pick Disease Awareness Month.

Every year a radio station in Fort Atkinson, Wisconsin has Barb Vorphal, one of the founding members of the NNPDF on its morning show.

This year, Barb and Nadine Hill, the Executive Director, spent 30 minutes discussing the current state of treatment and research.

You can listen to the podcast here.

Research Team for Niemann Pick Types A and B

The Genzyme "Team" gathered at the Cambridge headquarters for a
group photo in support of October 2012 as NPD Awareness Month.

Today, Genzyme, a Sanofi Company, is hosting two presentations at their facilities in Framingham, MA, their manufacturing plant, and at their downtown Cambridge, MA office headquarters in support of October 2013 as Niemann-Pick Disease Awareness Month.

Making use of NNPDF provided informational brochures on NPD Types A & B (ASMD), newsletters, wristbands and posters, the presentations will include video testimonial from individual patients, as well as, updates on the progress of the ongoing Enzyme Replacement Therapy (ERT) clinical trials that are currently taking place with NPD Type B patients at Mt. Sinai in New York City and in the United Kingdom.  In addition, research information and updates on the continued efforts toward additional potential therapies for Niemann-Pick Disease Types A and B, also know as, acid sphingomyelinase deficiency (ASMD) will be offered to the Genzyme employees and attendees. 

The entire NNPDF family community wishes to offer a sincere note of thanks for the contiued efforts and commitment of the Genzyme "Team" who, not only continue to PERSEVERE toward their goals for a therapy with ASMD, but have become true partners towards this effort with all of the NPD community world-wide.   It is appreciated more than you know.

Living with Niemann Pick Type B

October is Niemann Pick Disease Awareness Month

So much of this blog is devoted to Type C, the variant that Dan had.  But there are other types.  Below is a booklet published in the United Kingdom about Type B, which is the non-neurological type of Niemann Pick Disease.

I invite my Type B friends to provide their thoughts in the comments (if they want).

A Practical Guide to Acid Sphingomyelinase Deficiency - Niemann Pick-Disease Type B 

The Niemann-Pick Disease Group (UK) in tandem with an educational grant from Genzyme, A Sanofi Company, developed this guide with the help of parents and caregivers of children, young people and adults affected by Acid Sphingomyelinase Deficiency (ASMD) NPD Type B. 

A Practical Guide to Living with ASMD Niemann-Pick disease type B (NP-B) aims to provide practical information, reassurance and support to those living with ASMD NP-B. The NNPDF is thankful to the NPD Group UK for making this booklet available to our US and Canadian families. 

Click here to view the ASMD Booklet

Show your support for Niemann Pick Disease

October is Niemann Pick Disease Awareness Month.

Today we are excited to roll out the "NEW" PersevereWEAR online store! These clothing items were first made available and sold at the 2013 Family Conference in Baltimore, MD,and now they are easily accessible via this link: PersevereWEAR Store

Not only can you purchase sweatshirts, t-shirts, visors, and hats, you can also create your own shirt for your Niemann Pick fundraising event.

Niemann Pick Disease Awareness Month

 

It's that time of year again.  

During this month I will be highlighting different people and ways to make a difference.

www.nnpdf.org

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

Another Weekend Wander

As I was writing about our beautiful trip to Nantucket, I realized that I never wrote about our first weekend wander after Dan died.

Over the summer I heard about a family with two young boys that have Niemann-Pick Type B.  They live near Watertown, NY, which is about 3 hours away.

We took the scenic route through the Adirondack Mountains and a bit of a heavy rainstorm.  What started out as a rainy day, turned into a nice afternoon. 

We had a wonderful day talking with family and friends and listening to music.

That evening they had a fire dance routine. Sorry if these are dark, but it was night-time.

Through some amazing generosity, we were able to stay at a summer cabin and enjoy a beautiful sunrise on Lake Ontario.

We had a lovely breakfast with some of the family and drove home.

On our way home, we stopped a met another mom and her two children, one of whom has Niemann-Pick Type C.  They only live about an hour away.  We had a wonderful conversation about how you move forward after losing a child - she lost her son - and doctors and therapies.  I know that we will be seeing more of her and her family.

Recap of 2012 Awareness Month

October is Niemann-Pick Disease Awareness Month.

I've bombarded you with information and pleas for money and other ways to raise awareness and money.  So none of that today.  Instead here is the recap of all the entries.

October 1 - Photos of those with NPD
October 2 - Young Adult Onset of NPC
October 3 - Help Publish a Book
October 4 - The 2012 Niemann Pick Challenge
October 5 - NPD, What is it? Why is it a Child Killer?
October 6 - NPD Treatments
October 7 - The Doctors TV Show
October 8 - International Friends
October 9 - More Easy Ways to Promote Awareness
October 10 - Can I catch NPD?
October 11 - Dan's Legacy
October 12 - What is Type A and B?
October 13 - NPA Videos
October 14 - NPB Pictures
October 15 - Unusual Awareness
October 16 - Book Update
October 17 - Kid Friendly Ways to Promote Awareness
October 18 - What is Type C?
October 19 - NPC Videos
October 20 - Save Money and Raise Money
October 21 - Research Foundations
October 22 - Two Weeks Left!
October 23 - It's Official
October 24 - What is the NNPDF?
October 25 - Random Awareness Items
October 26 - Blood Test for NPC
October 27 - Legacy of Hope
October 28 - Family Blogs
October 29 - Family Businesses
October 30 - In Memory
Today

Family Pages

October is Niemann Pick Disease Awareness Month.

If it wasn't for families to have traveled this path before, and those who are currently traveling it, there wouldn't be as much information for those who are newly diagnosed.

Over the past 18 months I have learned a tremendous amount from other families - not just medical information (symptoms, "remedies", etc), but about PERSEVERENCE in the face of adversity, and above all LOVE.

I've listed below the blogs of other families that I currently follow.  Please send them some love too.


Type A/B

Angel Kaitlyn Bourgeault (NPA)

Jacob Brooks (NPA/NPB)

Angel Faith & Riley Robbins (NPA)

Quinn Linzer (NPA)

Angel Trek Atlas (NPA)

Angel Mia Watts (NPA)

Type C

Angel Gavin Lopez (NPC)

Tylor White-Richardson (NPC)

Katie Limer (NPC)

Kamryn Brumbeloe (NPC)

Lorna Tyrell, mom to angel Naomi (NPC)

Angel  Emily Hrback (NPC)



There are other families who have taken the blog further and created full websites with lots of information.  Prior to, and just after diagnosis, when we were researching NPC, we relied on the top two websites below a lot.   Some have blogs inside their websites as well.

Addi and Cassi (NPC)

The Stults Family (NPC)

Angel Wylder Laffoon (NPA)

Chase Reedy-DiGiovanni (NPC)

Angels Cathryn and Corynne Bouchard (NPC)

Dillon Papier (NPC)

Julia Kain (NPC)

Mindy Fagan (NPC)

Angel Luke Liegghio (NPC)

Angel Monica Taillefer (NPC)


All of these are accessible on right hand side of the page under the picture.

NPB Photos

October is Niemann-Pick Disease Awareness Month.

To continue the information on Types A and B, here are some pictures of those with Type B.


Melissa

Collin and Cohen

A few others with Type B from the conference