The international world

October is Niemann-Pick Disease Awareness Month.

Here is some information about the international community of Niemann-Pick Disease (copied from the NNPDF):

As we wrap up October Niemann-Pick Disease Awareness Month, we would like to take the time to remind our community that Niemann-Pick Disease is a global disease, that affects people of all nationalities and in all countries around the globe.  

While the NNPDF and CCNNPDF work diligently to extend support to any and all families that reach out and contact us, there are times where distance and language do become a barrier in supporting NPD family needs.  For this, we are very grateful to have the International Niemann-Pick Disease Alliance, which helps us to bridge such gaps. The INPDA states that the group is an, "International response to a group of diseases that present challenges that cross all national boundries."



INPDA Members during the 2013 Family Support and Medical Conference

The International Niemann-Pick Disease Alliance was formed in October, 2009 with a view of providing a forum, where, through the exchange of information, experience and knowledge, progress could be accelerated. 

In 2013 a grant was granted to the INPDA in support of creating the FIRST Niemann-Pick Disease International Registry database, which will help provide with accurate numbers of those affected with NPD around the world, as well as allowing us to support a wider spectrum of families.

To learn more about the International Niemann-Pick Disease Alliance (INPDA): Click Here

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How to Spread Awareness Year Round

October is Niemann Pick Disease Awareness Month

Just because we have a month, doesn't mean that you can't spread awareness all year long.  But how?

PersevereWEAR

Quick link here for Website to order product

The popular PersevereWEAR has returned in more colors and styles than before! These are the shirts available at the 2013 Family Conference in Baltimore, so if you didn't get yours before supplies ran out, now is your chance! 
Visit the PersevereWEAR Store online to order yours.

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Persevere For Life Wristbands

Quick link here to the Persevere Wristband Order Form

Don't leave home without your periwinkle PERSEVERE wristbands to show your support for those with Niemann-Pick Disease! These are updated for 2013 with "Persevere for Life" written along the band.  These wristbands are great for fundraisers and as gifts for friends and family alike. Adult and Youth sizes available!
NNPDF Product Order Form

Persevere Window Decals

Quick Link here for website to order product

Persevere Window Decals are produced by a good friend of the NNPDF - sales benefit the foundation.  Visit Etsy shop - Victory Decals to order.  Decal application tips (pdf)

Bravelets & Persevere Beads

Click here for quick link to purchase Bravelet
Click here for quick link to purchase Persevere Bead

Looking for the perfect gift that doubles for NPD awareness?  Becky Mcquire, NNPDF Board Member and Cousin of Kelly Thompson (NPC), is offering NPD Awareness jewelry through Bravelets and a Persevere Bead for Pandora and similiar bracelets!

~Bravelets~

Bravelets™ bracelets are made to help you be brave during tough times. Wear it proudly for yourself or for a loved one!

• The women’s bracelet is made of 316L stainless steel and genuine leather.
• The men’s bracelet features dark brown bolo leather and smooth colored leather and the adjustable bracelet is made of braided cord and stainless steel.

With every bracelet purchased, $10 will be donated to fight Niemann-Pick Disease!

Click a link below or above photo (Men/Women) to order your Bravelets!

Women's Bravelet                             Men's Bravelet

~Persevere for Life Bead~

This beautiful keepsake is periwinkle blue, the color for NPD Awareness, and says "PERSEVERE FOR LIFE" along the side. It makes a great gift and even fits Pandora™ as well as similar bracelets.

Click Here, or the above photo for the order form

Proceeds benefit the National Niemann-Pick Disease Foundation 

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Another NPC Angel

October is Niemann Pick Disease Awareness Month

Remember Chad Mayo who I introduced you to about a week ago?

His brother posted this:

It is with great sorrow that I must inform you that today, Oct 25th, Heaven received yet another angel. My brother, W. Chad Mayo passed in peace. I am so proud of my brother for his amazing fight. For the past 20 years he fought a battle with Niemann Pick Type C, and continued to prove all the doctors wrong. He fought and wouldn't stop until his last breath. I am honored to share this family name"Mayo" with you. Godspeed my brother, and sweet dreams. Until we meet again. I will love you always!!

Chad's mom wrote this:

I've read these notices over and over for years and never looked forward to the time that we would have to write one ourselves but on October 25, 2013 our sweet Chad left this earth to join his Heavenly Father and loved ones that have gone before him.

We feel blessed to have had the privilege to share Chad's life for 39 years but it's never long enough.  We already miss his presence and his infectious laugh.

Thank you to so many that kindly sent a card and note sending Chad their warm sentiments.  Chad was home with his family, the week prior to his passing his younger brother and his family were able to take Chad for several walks as we had been blessed with lovely weather.  Quite a few friends and family came to visit Chad.  Our aim was to make his remaining time as "happy" and loving and as normal a routine as possible.  The second week became more challenging with Chad's regression but we are so grateful for the time that we had been afforded.  Chad passed peacefully with his family and close friends around him at 6:30 pm in the comfort of his own bedroom.

Thank you again for the years of interest, concern and love shown from the NPC family.

5 for Five - Oct 28

So what is 5 For Five?  In the short form, it is 5 goals you want to achieve this week.  Next week, I will report on my success (or failure).  Jenn does a better job of explaining it here.

Here were last week's goals:
1. Read some newspapers. Yes! I read 5! Not as many as I wanted, but I'm making progress again.
2. Finish some outstanding NNPDF items. Yes!
3. Find Halloween costumes for me and hubby.  Shelby is all set with a choice of three! Nope. But I thought we were going to need costumes for a parade, but we didn't get to go to the parade, so no costumes needed.
4. Clean up my coupons. Yes! Took me quite a bit of time, but they are done for another little bit.
5. Print some pictures. Nope.

So what are the plans for next week?
1. Read some more newspapers.
2. Have some quiet time.
3. Finish a training class.
4. Finish a Kindle book I am writing a review on.
5. Balance the checkbook.


Anyone want to join me in making some goals?  How did everyone do with their goals from last week?
So what are you planning for this week?  Feel free to post them below if you want.

An NPC Angel

Jerry James Wilson
12/13/1989 ~ 10/18/2013

Jerry Wilson (NPC) and Family at the
2011 Family Conference

Dear Families and Friends,

It is with great sorrow that we must inform the Niemann-Pick Disease Community that Jerry Wilson lost his battle with NPD on Friday, October 18th at the age of 23.

Jerry enjoyed listening to music, fishing, playing video games, and riding his bike.  He was a big fan of Pittsburgh Steelers football and the World Wrestling Federation.  John Cena was his favorite professional wrestler.  Jerry also loved playing with remote control cars, drawing, going bowling and playing bingo.
Many of us had the esteemed honor of meeting Jerry at the 2011 Family Conference.  He especially enjoyed the baseball game and the fireworks display.  Feel free to share your fond memories & condolances with the family at the below link.

For Jerry's services, Memorial or to send your condolances you can visit: Here
 
His sister made two collages for Jerry.  These are from her Facebook page.






Our hearts go out to all of Jerry's family and anyone who he has touched in his time with us.  May his family and friends find the strength they need to move on in the days, weeks and months ahead without Jerry in their arms. Please know that all the families and friends of the National Niemann-Pick Disease Foundation are with you all in our hearts and in grief.

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.

Type C Clinical Update

October is Niemann Pick Disease Awareness Month

The information below came from the NNPDF website:

We are happy to share with the NPD community that the NIH/TRND Cyclodextrin in NPC1 trial has been restarted.  Despite the Federal Government shutdown from October 1-16, our team was able to meet our projected re-start date in late September, and to date have coordinated three successful admissions on this protocol.  We are grateful for the patience of the participating families, and for the dedication of the NIH Clinical Center staff, which allowed us to avoid any major interruptions in the admission schedule.

We have scheduled three additional patients to start before the end of 2013. The remaining open slots will continue to be scheduled on a rolling basis as we get closer to the start dates in early 2014.  We will be re-contacting families who had been screened previously to make sure they are still eligible before we schedule the remaining slots.  If any families with children ages 2-25 are interested in more information about the trial or would like a member of our team to screen their child to see if they are eligible, they can contact Nicole (Yanjanin) Farhat at (301) 594-1765

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.

Fundraiser Push

October is National Niemann Pick Disease Awareness Month

This year for October, I am promoting two fundraisers:

1. Create Jewelry in Dan's Memory
This is an Origami Owl fundraiser.  They have some amazing new items, including bracelets.  You don't need to create a locket, you can use the dangles or tags to add to existing necklaces (for guys too!) or to a zipper pull or pocketbook/purse.  If you can't attend, please go to jessicawells.origamiowl.com/shop and create your designs.  Don't forget to select the Niemann Pick Fundraiser Jewelry Bar on the checkout screen!  If you have problems, feel free to contact me using the contact form on the lower right side.  If you are outside the USA, please contact me if you want to order something and I will give you my shipping address and then I will send it to you!

2. Donate in Dan's Memory
Not interested in jewelry?  That's ok!  I have an online donation page for the month of October.  All donations go to the NNPDF for research into treatment and a cure for Niemann Pick Type C.  I have set a goal of $500 in online donations this month.

5 for Five - Oct 21

Here is the next installment of 5 for Five with Jenn at Party of One.

So what is 5 For Five?  In the short form, it is 5 goals you want to achieve this week.  Next week, I will report on my success (or failure).  Jenn does a better job of explaining it here.

Here were last week's goals:
1. Get some of those newspapers read!  I want a bunch done before I go back to work (whenever that is!) I read 1 and it was on the bus on Friday commuting to work.
2. Pre-write some Niemann Pick blog posts. I had a few posts scheduled early.
3. Get the paperwork organized again! Not much success with this.
4. Find ways to save money. I used all the gas points from my grocery store and almost filled our truck for under $1.00/gallon.  I called cable to lower my bill and all they wanted to do was bundle my services which I didn't want.
5. Get my closet organized. Nope.


Ok, let's try some of these again.
1. Read some newspapers.
2. Finish some outstanding NNPDF items.
3. Find Halloween costumes for me and hubby.  Shelby is all set with a choice of three!
4. Clean up my coupons.
5. Print some pictures.

Anyone want to join me in making some goals?  How did everyone do with their goals from last week?
So what are you planning for this week?  Feel free to post them below if you want.

Awareness Videos

October is National Niemann Pick Disease Awareness Month

Here are a few videos that were created by families to raise awareness.  There are quite a few. Any type of You Tube search will provide quite a selection of videos to watch.

This is Kamryn Brumbeloe from 2012 when she was one. I met Kamryn in Nashville at the NNPDF conference last year. You can read more about her here.




This is in memory of Riley Corbitt who died at age 6.  I never had a chance to meet Riley, but her sister and her other and great-aunt still champion for a cure.

Adult Onset Niemann Pick Type C

October is National Niemann Pick Disease Awareness Month

• Niemann-Pick Disease Type C in Adults by J. Imrie & J.E. Wraith
• Adult-Onset Niemann-Pick Type C Disease: A Clinical, Neuroimaging, and Molecular Genetic Study
• The Adult Form of Niemann-Pick Disease Type C by Marie Vanier (NNPDF Scientific Advisory Board Member)

Brad & Bart Mackie ~ Adult NPC

Brad (Adult-NPC) & Bart (Adult-NPC) Mackie with their cousin, Dana Wilson in the center

We were recently contacted by Lynn Lambright who wanted to share with the community this video of her son, Brad, with his loyal companion Dusty.

Both Brad (age 53) & his brother Bart (age 51) have adult on-set NPC.  Their mother, Lynne, commented on how they are both courageously dealing with the loss of most of their abilities, yet they have a daily drive to stay connected with family and friends.  

Adult onset NPC is still a new and undiscovered area for, not only the families who have a loved one diagnosed with NPC, but also for the various patient advocacy groups who offer support. This is an area that the NNPDF is working towards offering more services and support to our families and adults with late-onset NPC. 

Letters for Chad Mayo

Chad Mayo (Adult-NPC)

I know that many of you have had the opportunity to “meet” and work with Margaret Mayo over the years on behalf of her son, Chad.  She was a strong supporter of the NNPD foundation's list-serv. She not only looked to the list-serv and the NPD family community for support, but also offered support to so many families, “time-and-time” again, as to her experiences and journey with her beloved son, Chad.  Margaret has contacted the central office to advise that Chad has had a difficult couple of months fighting off a MRSA infection followed by aspiration pneumonia.  

He was first diagnosed with NPC at NIH in 1998 when he was 23 years old.  It has been a long 16 years for all involved and Chad has given an heroic fight, but is now quite ill and has gone home with “comfort care” through hospice.  His family has asked that the NPD family community do one last act of kindness on behalf of Chad. Please see their message below:

*October 10th, 2013* Family Request for Chad Mayo, NPC, age 39 years. 

Parents: Margaret and William of Pennsylvania ~ members of the NNPDF.

Dear friends and family.

My brother Chad Mayo is in the final stage of his fight with with Niemann- Pick Type C. I am asking that all those that have had the pleasure of knowing Chad lift him up in prayer. I would like to have Chad's final days filled with love and kind words letting him know that his life had such great meaning. If you would be so kind to take a minute and send a card or write a letter letting him know how his smile made you feel, we will be sharing all the notes, cards and letters with him as them come in.

Please Mail to:
1175 Muhlenberg Ave
Swarthmore, Pa 19081

Thank you in advance! The Mayo Family

Click this link to read Chad's Story

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.

Niemann Pick Article in Neurology Now

October is National Niemann Pick Disease Month

The National Niemann-Pick Disease Foundation was recognized for their efforts to have October declared NPD Awareness Month. The full article itself is a look at disease-related dementias in the Waiting Room titled: Scientists Set Dementia Research Goals. Neurology Now (www.neurologynow.com ) also offered a The Waiting Room "BONUS" segment at which they interviewed Dr. Marc Patterson for detailed information on NPD.

Click Here to view the NeurologyNow article.

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

Research is the Hope of the Future

October is Niemann Pick Disease Awareness Month


The research funded by the NNPDF is made possible in great part due to the efforts of our member families and their extended support networks via local community-sponsored events, and to the support of the Canadian Chapter of the National Niemann-Pick Disease Foundation (CCNNPDF).

The NNPDF is truly grateful for this support!

Our most recently funded Fellows & Research Grants are:

• Dr. Charles Vite – University of Pennsylvania (Grant)
• Dr. Deepti Gadi – Weill College of Cornell University (Fellowship)
• Dr. Stephanie M. Cologna – National Institute of Health (Fellowship)
• Dr. Lluis Samaranch – University of California (Fellowship)
• Dr. Andrew Munkacsi - Victoria University, New Zealand (Fellowship)
• Dr. Dorthea Maetzel - Whitehead Institute/Cambridge (Fellowship)
  
  To view their current research, labs and biographies: 

Click Here for Fellowship
Click Here for Research Grants

All the money raised by the two fundraisers listed at the top of the page go to fund further research.


But there is other research being conducted around the world.

Dr. Maria Dolores (Lola) Ledesma


Dr. Maria Dolores (Lola) Ledesma
NNPDF Scientific Advisory Board Member 

A current member of the NNPDF International Scientific Advisory Board, Maria Ledesma continues on with her stellar research in the area of NPD Type A & B (ASMD) patients. 

Below is her presentation at the 2013 NNPDF Baltimore conference titled:  How does Acid Sphingomyelinase Deficiency Impact the Brain? 

Click here to view Dr. Ledesma's August 2013 presentation (PDF)

5 for Five - Oct 14

Here is the next installment of 5 for Five with Jenn at Party of One.

So what is 5 For Five?  In the short form, it is 5 goals you want to achieve this week.  Next week, I will report on my success (or failure).  Jenn does a better job of explaining it here.

Here were last week's goals:
1. Get some of those newspapers read!  I want a bunch done before I go back to work (whenever that is!) Some success. I read 5.
2. Pre-write some Niemann Pick blog posts. Nope. I was hoping to do a post a day, but missed this past weekend.
3. Get the paperwork organized again! With hubby's help, got some of the kitchen table (one of the cluster areas) organized for a few days.
4. Find ways to save money. I spent about $100 this week for groceries and household items.  Not too bad.
5. Get my closet organized. I didn't do mine, but I did Ms. Shelby's as she is growing out of one size of clothes.

I'm leaving my goals the same.  I really want to try to get the clutter organized again!

1. Get some of those newspapers read!  I want a bunch done before I go back to work (whenever that is!)
2. Pre-write some Niemann Pick blog posts.
3. Get the paperwork organized again!
4. Find ways to save money.
5. Get my closet organized.


Anyone want to join me in making some goals?  How did everyone do with their goals from last week?
So what are you planning for this week?  Feel free to post them below if you want.

A Rainbow of Colors

Everyday I wear a rainbow of colors on my arm.  Ok, so it isn't a true rainbow.

From left to right:

1. Coming together for Kaitlin. This honors a young woman who lives near me who had Batten's Disease. (Purple)

2. Road to Discovery. This is Notre Dame Dean Greg Crawford's yearly bike ride to raise funds for research into NPC. (Dark blue)

3. Persevere For Life. This is the new NNPDF wristband that I wear in memory of my son Dan. (Periwinkle)

4. Gavin's Cause. I wear this in memory of Gavin Lopez who lost his battle with NPC about 2 weeks before Dan. At the time Gavin's mom had a blog that I constantly read and I could see Dan's decline at the same time. (Green)

5. Wylder Nation. This is in memory of Wylder James Laffoon who lost his battle to NPA in 2012. Wylder's mom Shannon has written a few kids books. We were the first Niemann Pick family Shannon met and we were honored to spend time with her in Nantucket last December. (Very light blue with red logo).

6. Embrace Life. This is in memory of Trek Atlas Ingram who lost his battle with NPA in Thailand in 2012 while embracing life with his family. Trek's mom blogs about their family adventures and his dad wrote a few books. (Light blue)

Siblings are Affected too!

Lauren Grodin (Phy.D.), a current member of the  NNPDF Board of Directors, brings a unique perspective to the conversation around NPD Awareness month, as she is a loving NPD sibling as well.

Her brother, Scott Marocco, lost his fight with NPC on June 6th, 2000 at the age of 13. 

Dr. Lauren Grodin is a licensed psychologist who specializes in working with children, adolescents, and their families. She is experienced in providing comprehensive evaluations and treatment interventions to assist youth and their families coping with behavioral and emotional concerns, medical conditions, and learning and developmental disabilities.

In August 2013, at the 21st Annual Family Conference in Baltimore, MD, Lauren presented a breakout session to our NPD families in attendance detailing how growing up with Scott influenced her life.

Please find links to her PowerPoint presentation, session notes and biography below.
Life with Scott: How Niemann-Pick Changed My Life
Presentation Notes
Lauren Grodin's Biography

Niemann Pick Angel

Just the other day I introduced you to Amber from New Zealand. 

Unfortunately she passed away at 9:40am New Zealand time on October 10.  

From her dad:
Another little butterfly girl has grown wings and flown away to play with her friends.
RIP Amber Ashlee Jelsma - our precious baby girl - we will love you forever.
3.00am 27/06/2011 - 9.40am 10/10/2013

From her mom:
A message to our Lysosomal Diseases family. Our precious Amber passed away peacefully this morning at 9.40am, 17 months after being diagnosed with Niemann-Pick Type A. She was surrounded by love & was comfortable. As with most things she did in her short life, her timing was impeccable & she passed during Niemann-Pick Awareness Month & Baby Loss Awareness week. Love to all who have also walked this journey.

Services:
Ambers Funeral service will be held at Newberry's on Kamo Rd on Saturday the 12th from 2.30pm. All who knew Amber are invited to attend to help us say goodbye to our beautiful butterfly girl.
Much Love, and thank you to all for your kind wishes.

In lieu of flowers, donations can be made in Ambers name to:
https://www.givealittle.co.nz/org/LDNZ/donate

A photo from the Niemann Pick conference last year

Kids Awareness Contest

Chase the Cure - October Awareness Contest
Entries due by October 28th, 2013

The DiGiovanni/Reedy family are running an awareness contest with a prize for three kids that have NPD affected kids/sibs in their lives! Everyone who participates has the same chance at winning. This is just an awareness contest, no donations being sought.

This contest is for the siblings, friends and family of loved ones with Niemann-Pick Disease.  You must be under 18 to enter.

For more information about participating visit: Chase the Cure ~ October Awareness Contest

Chase (NPC) & brother Cameron Reedy

Five for 5 - Oct 7

Here is the next installment of 5 for Five with Jenn at Party of One.

So what is 5 For Five?  In the short form, it is 5 goals you want to achieve this week.  Next week, I will report on my success (or failure).  Jenn does a better job of explaining it here.

Here were last week's goals:
1. Read more newspapers. Fail.  I read one.
2. Redesign the blog. Success!
3. Figure out which dress clothes fit to return to work next week. Sort of.  I found a few that fit, but since the government shut down mid week, I'm out of work until it re-opens.
4. Stay up all day, what would be a work schedule. I did pretty good.  Still slept most mornings until 8 or so.  I need to be up around 5:30am for work, but since I don't know when I'm going back to work....
5. Make sure Daddy is all set to care for Ms. Shelby. Daddy cared for Ms. Shelby all day for most of the week.  I think they are all set.


Ok, so what are my goals for this week?

1. Get some of those newspapers read!  I want a bunch done before I go back to work (whenever that is!)
2. Pre-write some Niemann Pick blog posts.
3. Get the paperwork organized again!
4. Find ways to save money.
5. Get my closet organized.


Anyone want to join me in making some goals?  How did everyone do with their goals from last week?
So what are you planning for this week?  Feel free to post them below if you want.

Drug Development and Regulatory Approval

Andrew Mulberg, M.D., representing the FDA, discusses the process to get approval for a rare disease clinical trial. This is especially of interest to the families of the NNPDF as we currently have TWO clinical trials taking place for Niemann-Pick Disease. 
     1. Acid Sphingomyelinase Deficiancy (ASMD) ~ Enzyme Replacement Therapy
          Sponsor:  Genzyme, a Sanofi company, Mount Sinai School of Medicine
          To learn more about this trial ~ follow this link.  
      2.  NIH/TRND Hydroxypropyl-β-cyclodextrin (HP-β-CD) for NPC
           Sponsor:  National Institutes of Health
           To learn more about this trial ~ follow this link.
Dr. Andrew Mulberg's August 2013 presentation and professional information is noted below:
View Dr. Mulberg's Video Presentation
View Presentation Powerpoint
View Dr. Mulberg's Biography

Dr. John McKew's presentation on Therapeutics for Rare and Neglected Diseases (TRND).  Dr. McKew was one part of a series of mini-presentations referring to elements of the FDA presentation highlighted above.

Dr. John Mckew's August 2013 presentation and professional information is noted below:

View Dr. McKew's Video Presentation
View Presentation Powerpoint
View Dr. McKew's Biography

Dr. Forbes "Denny" Porter's presentation on The Cyclodextrin Phase 1 Trial.  Dr. Porter was one part of a series of mini-presentations referring to elements of the FDA presentation highlighted above.

Dr. Porter's August 2013 presentation and professional information is noted below:

View Dr. Porter's Video Presentation
View Dr. Porter's Biography

For more information on the research and these presentations see the NNPDF website at www.NNPDF.org

The face of Niemann Pick Type A

I want to introduce you to little Amber.  Amber lives in New Zealand and has Niemann Pick Type A.

We had the pleasure of meeting Amber and her mom Laura and dad Dylan in Nashville at last year's Niemann Pick Conference.

Amber has had some serious set backs the past few days and the disease may be taking its toll. Her kidneys and liver are not doing their job anymore.

Amber can use some healing thoughts and mom and dad could use some prayers for guidance.  

I just added her blog to the Other Families tab.

Create Jewelry in Memory of Dan

October is Niemann Pick Disease Awareness Month

This is my second fundraiser for this month.

NATIONAL NIEMANN PICK DISEASE AWARENESS FUNDRAISER

DAN’S DREAMS

SATURDAY, NOVEMBER 2, 2013

11AM TO 1PM

BALLSTON SPA ELKS LODGE

10 HAMILTON ST

BALLSTON SPA, NY 12020

Come create necklaces or bracelets in 5 easy steps.

Join us for giveaways and raffles.

Can't make it? Don't worry.

Place an order online at http://jessicawells.origamiowl.com and be sure to

select "Jill Flinton's Niemann-Pick Fundraiser Jewelry Bar" at the checkout.

or see Jill Flinton for an order form

20% of proceeds go to Niemann-Pick Disease Foundation (www.nnpdf.org)

Online orders can only be shipped to USA

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.

Donate in memory of Dan

October is Niemann Pick Disease Awareness month.

This year, I am doing 2 fundraisers.  This is the first one.  During the month of October, I am hoping to raise $500.  Any funds raised will go to the NNPDF to help fund future research.  Donations are only accepted online at the link below.  Any amount is great!

Donate in memory of Dan

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