Running 4 Kelly & The National Niemann-Pick Disease Foundation

First Time Fundraiser Winners and Article!

2010-12-13T09:59:00.001-05:00

Check out the article on Running 4 Kelly in the winter edition of the National Niemann-Pick Disease Foundation Newsletter.

Back in July we received notice that we WON the First Time Fundraiser's Contest. Here is the note:

Congratulations! The Thompson-McGuire family is the winner of the First Time Fundraiser contest for 2010!

As the winner, you are entitled to a free room for the three nights of the Family Conference in Toronto, August 5, 6, and 7. It is actually a two-bedroom apartment-style suite including kitchen facilities.

We unfortunately we unable to attend the conference this year, so our family donated our prize to a well deserved family that needed assistance in order to attend the conference.

WE DID IT!!! CONGRATS TO RUNNING 4 KELLY!

2010-09-28T11:56:00.003-04:00

WE RAISED OVER $9,700 FOR NNPDF!

Thank you to all who donated, supported and encouraged all of our runners.

From encouraging words or a hug full of strength and love, or a donation to the foundation, we could not have done this without you. Our family hopes that someday researchers will find a cure. In the mean time, thank you from the bottom of our hearts!

Enjoy some photos of Nashville!

THANK YOU!

Every mile run, every dollar raised

brings us one step closer to a CURE!

Easter Training Run!

2010-04-06T11:30:00.002-04:00

This past weekend was beautiful to say the least! The sun was out and it felt like spring. Everyone was coming home to CT for the Easter weekend, so the team decided to run together on Saturday morning. This was the first time the whole team was together for a group run. At 8am we all gathered at Rails to Trails in Farmington.

Everyone had their longest run of their training schedules ahead of them, but Kelly came to inspire and motivate our team. With the sun shining, not cloud in the sky and Kelly's bright smile, we all were determined to run our little hearts out that day!

Kate, Brad, Becky, Jim, Kelly Matt, Kerry & Corey

Family photos from later that day, after our run!

Relaxing after our run with an ice-bath

The Whole Family on Easter

Family showing off the backs of our t-shirts

Runners, Kelly & Gram facing forward

WE WILL CONTINUE TO FIGHT!

2010-03-10T16:21:00.001-05:00

Unfortunately, we received word yesterday that the U.S. Food and Drug Administration (FDA) did not approve Zavesca (miglustat) outright for the treatment of Niemann-Pick Disease Type C (NPC) at this time. However, we remain hopeful that FDA approval may still come at a future date. We know that Zavesca has been of great benefit to Kelly, as well as others affected by NPC.

As a bit of background, Zavesca is approved in the U.S. for use in Gaucher Disease, and is currently prescribed “off label” (in the U.S.) for those with NPC. Actelion, the maker of Zavesca, had applied for FDA approval of Zavesca in the treatment of NPC; approval would likely improve access and insurance coverage of the drug for those with NPC.

The FDA can take any of three possible actions with regard to New Drug Applications:  

1) An Approval Letter

2) A Non-Approval Letter (straight denial)

3) Complete Response Letter -- which is what Actelion received regarding its application for use of Zavesca in NPC.

The "Complete Response Letter" allows Actelion to continue to explore and collect data which might more clearly show the positive impact that the drug (Zavesca, in this case) has on the treatment of the disease (Niemann-Pick Disease Type C).

One of the difficulties in developing a drug for a rare disease is the small number of patients involved, and the accompanying challenges in collecting large amounts of data. Regardless, Actelion has indicated they remain committed to moving forward in working for FDA approval of Zavesca for patients with NPC.

It should be noted that Zavesca is approved for the treatment of progressive neurological manifestations in adult and pediatric patients with Niemann-Pick Disease Type C in the European Union, South Korea, Brazil, Russia, Australia and, most recently, Canada (Canada approved Zavesca on March 4, 2010).

In honor of all who face the challenges of NPC, and in memory of those who have gone before, we must PERSEVERE in our Quest for a Cure! RESEARCH is what will unlock the mysteries of NPC and result in effective treatments and a cure. And THAT is why WE ARE RUNNING 4 KELLY!

Thank you for your support!

Meet the Team: Running 4 Kelly

2010-03-03T10:47:00.053-05:00

Short Q&A with the Team
Jim, Becky, Kate, Brad, Kerry & Corey

What made Running 4 Kelly chose this marathon?

We chose The Country Music Marathon because it was a great fit for our team in many ways. We all really enjoy country music. Some of us will be packing our cowgirl boots and our cowboy hats and others are looking forward to listening to all of the great music in Nashville. For some of us, this will be our first time in Nashville. It will be a great family and friend bonding experience as well as a great opportunity to raise money for a well-deserved charity. We have worked with the National Niemann-Pick Disease Foundation and have become official charity partners for the race. This will help with raising awareness, which is a large portion of our fundraising project.

Top: Kelly with her brother, Jim

Bottom: Kelly with her cousins, Kate and Becky

Why did Running 4 Kelly chose to run?
We all want to be a part of something bigger; something that goes beyond ourselves and our time here. We hope that one day, researchers will find a cure, resulting in a future of healthier children and adults. We are running to make a difference. We are running because we want to dedicate ourselves, our time, and our efforts in hopes that others will join us in making a difference. We are running because Kelly and others afflicted with Niemann-Pick Disease cannot run. We hope that one day this disease will no longer inhibit others from running. We are running to raise awareness and to remind people that the struggles they are facing on a daily basis may not come close to those struggles that Kelly and others face. Kelly conquers her fears and struggles all while wearing a smile, the least we can do is RUN to help subside those fears.

Finally, family is important to all of us (as we come from one of the best). Being a member of our family means accomplishing amazing feats for one another. We are happy to commit both to Kelly and the foundation. We hope that this is just one of the many ways that shows Kelly how much her family and friends love her.

We are running for a cure…for with each dollar raised and each mile run… we are one step closer to a CURE!

Is this everyone's 1st half/full marathon?
For the majority of our team, it will be our FIRST MARATHON and our FIRST HALF MARATHON. Most of our team members have run in 5ks, a few half marathons, 10-mile runs, and some relays.

Top: Kelly with Brad, husband of her cousin Becky

Middle: Kelly with her good friend Kerry

Bottom: Kelly with her good friend Corey

What are our long-term goals?
Our long-term goals for this fundraiser are to raise awareness and fully commit ourselves to the foundation. To raise money for a rare disease is often difficult, in that it is an awareness project, all the while trying to raise money for future research.

We hope and pray that one-day Kelly and others afflicted with Niemann-Pick disease will see the benefits of further research and one day a CURE!

WE WILL PERSEVERE!

Kelly's Story: Through the Eyes of Her Family

2010-02-05T08:54:00.000-05:00

Type C Niemann-Pick Disease (NPC) has about 500 cases diagnosed worldwide. It is believed, however, that the number of people affected by NPC is higher because diagnostic difficulties do not allow an accurate assessment of the occurrence rate. NPC can initially be diagnosed as a learning disability, mild retardation, "clumsiness," and delayed development of fine motor skills.

Nothing was truer than in Kelly’s case. In 2004, after 5 years of uncertainty and a battery of tests and exams, Kelly was diagnosed with adult onset of NPC at the age of 25.

Instantly, our lives were changed as we found there is no cure…..

Following the diagnosis, we immediately looked for help and answers. Dr. Marc Patterson of Columbia Presbyterian Hospital was conducting a clinical trial for the experimental drug Zavesca. Although the trial was underway, we were fortunate that Kelly was accepted as the last patient. It was during the initial stages of the drug trial that we were introduced to the National Niemann-Pick Disease Foundation (NNPDF).

Kelly w/ The Mayo Boys

Understanding why Kelly went from leading what we thought was a relatively normal life to accepting the NPC diagnosis was a shock. We learned how other families utilized the NNPDF as an informational resource and how they were able to rely upon the support network through the difficult times.

Kelly's childhood years were as normal as any can be, she actually maintained an above average academic standing and participated in extracurricular activities such as soccer, softball and cheerleading. Kelly’s high-energy and positive outlook on life was second-to-none. Kelly graduated high school and attended Eastern Connecticut State University. It was during her college years that it became apparent to her professors, and eventually us that her efforts could not compensate for an underlying learning disability. Although it was a struggle, Kelly completed all required coursework and graduated in 2002. Also during that time, Kelly’s motor skills, speech and swallowing difficulties had been noticeably declining. NPC had also taken away her love of reading, her concentration, and dramatically changed her personality.

Today, Kelly attends an adult day-center where she is mobile, socially active, attends day trips and helps out with the daily activities. The staff sees Kelly as a client but also looks forward to her smiling disposition as it brightens the days of everyone she meets.

Today the foundation is striving to educate the masses about this terminal illness and provide families with peace of mind that there is an ongoing search for a cure.

Please consider donating to our cause. Every dollar raised and every mile run brings us one step closer to a cure!

The Thompson Family

What is Niemann-Pick Disease and the NNPDF?

2010-02-03T10:52:00.000-05:00

All information below is from the National Niemann-Pick Disease Foundation and their website:

Niemann-Pick Disease (NPD) is a rare, genetic, terminal illness. NPD is a lysosomal storage disease, causing accumulation of fats in the cells of the liver, spleen and brain. When cell function is blocked, physical and neurological deterioration occurs, including the loss of the ability to walk, speak and swallow.

The National Niemann-Pick Disease Foundation (NNPDF) was established in 1992 to raise money for family support services and research. Since then, the Foundation’s membership has grown to over 350 families, and over $4.3 million has been applied toward research. As a result of this research, the gene responsible for Niemann-Pick Disease has been identified, and research continues, seeking treatments and a cure for Niemann-Pick Disease.

In addition to its work within the United States, the NNPDF provides support to the Canadian Chapter of the NNPDF, and collaborates with international Niemann-Pick Disease organizations. The NNPDF also provides education, referrals and advocacy to a broad international audience via its Web site at www.nnpdf.org .

For more information about the National Niemann-Pick Disease Foundation, visit www.nnpdf.org or contact the NNPDF by telephone at 920-563-0930 or by email at nnpdf@nnpdf.org .

Thank you NNPDF for providing us with this information. Click here for their website.