NASHVILLE

Where did the summer go??  Tylor had a fun filled summer but it just went by way too fast.  To end summer vacation we went to Nashville for the National Niemann Pick family conference.  This year marks the 20th anniversary for the foundation so it was an extra special time for all of us involved especially for those who started this wonderful foundation.

It was a great weekend but a little overwhelming.  There was a lot of information about the up coming Cyclodextrin trial at the NIH and some other great research going on in different labs around the country.  They were hoping to get the trial up and going by the end of this year but it looks like it will start in the fall of 2013.  I am not sure if Tylor would be eligible for the trial because they are not completely done talking with the FDA on all the specifics. But I am still up in the air about getting Tylor in the trial so as information emerges I will pass it on and let you all know what we have decided.

Outside of receiving all the great information we were able to spend some time with old friends and met a lot of new families.  I always love getting together with my NPC family because they know what we are going through and they are so supportive.

Here are some pictures

Taking a nap after swimming

Karen Quant introducing the doctors & researches involved with the NPC community

The children that where taken from us too early last year

Ty at the Rain Forest Cafe

Throwing money into the fountain.  All the money was donated to NNPDF

The Moms at Hooters!! Tylor got a shirt signed by all the girls there.

We got to see some ND friends there as well.

We had a western theme this year and the kids loved the cowboy hats

Mom, Ty, and Kim dancing

The Moms are getting down.

Ty Bug's Duck...The Lady Bug

Ty's Duck is the lead!!

Well we didn't win the Grand Prize but Ty's lady bug duck won the first heat so at least we got into the final race!  It sounded like they had amazing turn out and everyone had a great time!  Thank you everyone who supported the Ducks for Bucks event to help find a cure for Niemann Pick Type C.

No fair weather riders here!

Rees, Tylor, and Rylee (good buds of Ty's)

Can't forget about Fat Head

The 2nd Annual Ryde 4 Tylor went on even threw the rain! We had about 30 bikes came and weather the storm with us.  Shortly after Noon we saddled up and headed for Buenie, we went through some rain but we missed the down pour by 45 minutes. But look at the view....

At Hank's Ty got a tshirt and a koozie....what a stud (he loves being the center of attention).

Hang Ten!

Sy and Kirsten

Ty and his Dad

After the first stop we lost some bikes because the weather station was calling for rain all day but most continued on. And let me tell you God was watching over us....the rain came when we were at our stop and then let up for us to make it to the next. I let my friend, Kirsten, ride with Sy so I jumped on the bus. The bus got lost, even though I did the practice ride I wasn't much help! I never pay attention when I am not driving, duh! So the bus group missed the third stop and didn't know if we had enough time to make the forth stop but we went anyway. I am glad we did because this is what we pulled up to....

Our dear friends from Farley wanted to surprise me, to say the least they did! It brought tears to my eyes!! Thanks again to the gang in Farley, you guys are the best!

Ty's Crew

Even through the rain we were able to spread the word about NPC and raise some money! Thank you to all you helped make the day a success, to all the riders, bar owners, and people we meet along the way! It is becasue of you our researchers can keep fighting for a CURE!!

Love You Buddy!

Rare-disease studies seek online giving

Website invites micro-donations for unusual illnesses.
Amber Dance

Those wanting to raise awareness about a rare disease will be able to take advantage of an initiative being launched later this year: a website that connects research projects with members of the public who can donate just a few dollars to help to develop cures.

The plan, called the Global Genes Fund, will "democratize the research proposal game", says Irwin Feller, an emeritus professor of the economics of science and technology at Pennsylvania State University in University Park.

The idea has been developed by the Children's Rare Disease Network, a non-profit organization based in Dana Point, California. The network plans to set up a test site by the end of 2011, with a formal launch in 2012. Potential funders will be able to choose from projects with funding goals of US$10,000-150,000. The fund will post proposals that are deemed by its committee to be likely to succeed within three to five years — that is, within the often-short lifetimes of people currently affected by the diseases.

Rare, or 'orphan', diseases are defined as those that afflict five or fewer people out of every 10,000 in the European Union or fewer than 200,000 Americans. The diseases are devastating but overlooked. Pharmaceutical companies are naturally interested in blockbuster drugs that will be taken by many people, whereas governments are often perceived as focusing their limited resources on more common conditions.

There is some funding: for example, in 2009 the National Institutes of Health announced US$24 million for the Therapies for Rare and Neglected Diseases programme to developing medicines for orphan diseases. But there is simply not enough money to support research on all rare diseases. There are some 7,000 orphan diseases affecting an estimated 350 million people worldwide. Of those, 75% are children, says Nicole Boice, founder and chief executive of the Children's Rare Disease Network. Parents often shoulder the burden of advocacy, running cake sales and other fund-raising events to support research.

Many hands
With the Global Genes Fund, Boice hopes to raise money and awareness to a level that is impossible for individual parents and scientists. She was inspired by the success of microloan website Kiva.org. On Kiva, users browse a list of individuals worldwide who need a small loan to pay for business expenses, home improvements or other projects. Through loans of as little as $25, Kiva has raised $22 million since it was founded in 2005.

The Global Genes Fund will solicit money for defined short-term projects, Boice says. For example, it might support whole-genome sequencing for a child with an undiagnosed disorder. Or it might pay for children with a rare condition to travel to a trial centre.

The fund will also seek corporate sponsorship. Those larger gifts will help to cover projects that don't receive sufficient micro-donations, Boice says.

"It's not just the funds, it's the awareness" that the fund will raise, says Audrey Gordon, president and executive director of the Progeria Research Foundation, based in Peabody, Massachusetts. The foundation is a non-profit organization that promotes the study of progeria, which causes rapid ageing. The global nature of the new fund means that more families affected by rare diseases will find others dealing with the same problems, advocates say.

"There's a serious lack of funding for these various rare diseases," says Chris Hempel, a Reno, Nevada-based advocate and mother of twin girls who have Niemann–Pick type C disease also referred to as 'childhood Alzheimer's'. "We're all in the same boat and no one's getting drugs."

Regarding the fund, "I think it's an extremely interesting project", says Steve Groft, director of the NIH's office of rare disease research. "It will meet the needs of some of the rare-disease-community members." Even a tiny $50,000 pilot trial could give researchers enough data to apply for more funding, he adds.

**Taken from Nature News**

A Father speaks about their struggle with NPC

Carl and Emma Burdon, like most parents, want to fill their child's life with as much love as they can.

Every moment with their six-year-old son Calum is particularly precious to the Freckleton couple, though, because he has a rare genetic disorder.

Calum has Niemann-Pick condition (NPC) which is likely to claim his life before he reaches his 10th birthday.

Mr Burdon said: "We have had to accept that unless there is a miracle, Calum is going to die young.

"Children don't usually survive past the age of eight or nine."

Calum was born with an enlarged spleen, one of the symptoms of the condition, but he was almost two when he was diagnosed with Niemann-Pick type C.

'In denial'
The couple were concerned he was not running or jumping about like normal toddlers and doctors did genetic tests on him which confirmed he had the disease in May 2006.

Mr Burdon said it was very difficult to accept. He said: "The hardest thing is the feeling that you can't do anything about it, that gets to you. There's no cure and no treatment and you feel useless."

The family have concentrated their efforts "on squeezing a lifetime of love in whatever time we have with him" and fundraising for children with the disease.

Both singers, the couple have done countless charity gigs for good causes in the past. "It really hits home, though, when you are doing events for your own child."

They stage an annual charity golf day and evening meal at Garstang Golf Club which is being held on 15 July this year and they are aiming to raise £10,000.

The trauma of living with a death sentence hanging over Calum's head has brought the couple closer.

"It's very tough to deal with but we're very committed to Calum and to each other."

Calum Burdon is going to Disneyworld in May through Hopes and Dreams charity His two children from a previous marriage Ricky and Derry, who do not have the condition, are equally supportive.

"They dote on Calum and make a real fuss of him. He always perks up when they're around."

According to the Niemann-Pick Disease Foundation, there are just 500 cases diagnosed worldwide - yet there is another child with the disorder from the Fylde coast.

Nine-year-old Leah Garfitt, the subject of Tuesday night's ITV documentary Leah's Dream, lives less than 20 miles from Calum in Fleetwood.

The two families have formed a bond and Calum and Leah meet up when they go to Brian's House at Trinity Hospice.

As well as support from Brian's House, the family say they also get much needed support from the Niemann-Pick Disease UK.

The charity's executive director, Toni Mathieson, has personal experience of the condition. Three of her children had it.

Now one of the UK's leading authority on the disorder, she said: "Sadly it is always fatal at the moment and it is a very difficult and challenging time for the families of children with the disease. It is never easy."

Mr Burdon glows with pride at his son. "We are so proud of Calum and his achievements but it isn't the usual things you would be proud of your children for - it can be him getting off the couch or finishing a sentence."

A snooker fan, Calum has met his heroes, including a home visit from three-times World Champion John Higgins through his cue doctor Kevin Muncaster who is from Freckleton.

"The look on his face when he realised it was John Higgins was fantastic."

Sports presenter Andy Goldstein has organised it for the couple to take Calum to Disneyworld in May through the Hopes and Dreams charity.

It will be a poignant, though. "We're creating memories for him but we're aware it will probably be his last trip."

Despite the inevitability of his condition, Calum is not short of giving or receiving affection. "I don't know any child who has had as much love and kisses as Calum has."

"He knows he is special, but he just doesn't know why," added Mr Burdon.

NIEMANN-PICK TYPE C FACTS

The disease is inherited. Both parents have to be carriers of the faulty gene and there is a 25% chance that they will pass on the condition to their child

It occurs when the body cannot break down cholesterol and other fats, leading to excessive levels of cholesterol in the liver, spleen and the brain

The condition is characterized by eye movement abnormalities, difficulty in swallowing and slurred, irregular speech, lack of muscle control and intellectual decline leading to dementia

We Made It!

A few days ago I blogged about us taking a trip to visit a NPC family we met in Seattle at the NNPDF family conference. Today we left at 6am to make the 11 hour trip to Scottsboro, Alabama. The trip went pretty well even though every gas station we stopped at was not really handicap accessible. I made suggestions on how to improve the accessibility which were not taken real well. If only they had to deal with someone in a wheelchair for a day maybe they would realize how difficult it is to get them around.

Coming down into Scottsboro there is a steep grade hill and Tylor got to see the run away ramps for the semis. He was able to see tracks from trucks that had to use them, he thought was pretty cool. I am sure it wasn't too cool for the truck drivers.

After getting checked into the hotel we were going to grab a bit to eat....well there was a problem with our room. The people didn't check out that morning and rented the room for another night. What??? I reserved this room for Thursday through Saturday but they told me sense they were there first there was nothing they could do about it. They offered us another handicap room but it was smoking...no thanks. But they kindly told me the room would be available tomorrow night and what are we suppose to do tonight, I asked?? So back on the road we went to find a hotel. We found a Hampton down the road, they staff was getting and got us into a handicap room right away.

Tylor is now sleeping snug as a bug in a rug....

In Loving Memeory of Stacey Vorpahl

One Child’s Story Through Niemann-Pick Disease Type C

Stacey Lynne Vorpahl (NPC)

January 3, 1985 – October 9, 2004

In loving memory of Stacey and all the other precious children lost to NPD, and in honor of those still struggling, please join with us in our Quest for a Cure. Follow the link to view Stacey's story, as told by her parents in text and photos.

10 – 10 – 10 Challenge

Please Help Raise Awareness for Niemann-Pick DiseaseMeet the NNPDF's 10-10-10 Challenge and take at least one simple action on October 10,2010, to spread the word about this devastating disease.

City of Dubuque Proclaims October Niemann Pick Awareness Month

We just received the Proclamation from the City of Dubuque proclaiming October National Niemann Pick Disease Awareness month. Unfortunately we didn't make it to the City Council meeting to accept the proclamation in person.

Thank you Mayor Roy Buel, Mayor Pro-Tem Karla Braig and the entire City Council for proclaiming October as National Niemann Pick Awareness Month.

Are you ready for the Challenge???

Take the NPD 10 – 10 – 10 Challenge!

Please Help Raise Awareness for Niemann-Pick Disease

Intriguing dates such as 10/10/10 don’t come around all that often, and it seems fitting to proactively observe this once-in-a-lifetime occasion, especially since it falls during

October National Niemann-Pick Disease Awareness Month!

Participating in the NNPDF Central Office Challenge and showing support for the many families coping with Niemann-Pick Disease is one simple way you can mark the day by making a positive difference. With just a few minutes of your time, you can help raise awareness and funding for all whose lives are affected and cut short by Niemann-Pick Disease.

Our 10-10-10 Challenge is to get 300 people to share information about Niemann-Pick Disease with 10 other people, via email, Facebook, Twitter, or other means (even via the hospitable old-fashioned way, face-to-face!).

Spreading the word about this rare disease is key to raising the essential funding for research which will find the treatments and cure we all work fervently toward, and to providing important family services for those who rely on us.

Here are some simple ways you can help families affected by Niemann-Pick Disease on 10-10-10:

1.Create awareness of NPD by forwarding this message to 10 (or more) people in your email address book.

2.Post this message (or your own message about Niemann-Pick Disease) to your Facebook page or blog. Post a link to the NPD Awareness Facebook page (click the Facebook icon on the NNPDF Home page at www.nnpdf.org).

3.“Tweet” about NPD and share the NNPDF Web site address: www.nnpdf.org

4.Take a group of friends out for coffee or dessert. Tell them about NPD and the devastating effect it has on families. (We will be happy to supply newly updated brochures for your use, just contact us.)

5.Donate $10 for NPD on 10-10-10 and encourage your friends and family to do the same. Most of us spend at least $10 a week on discretionary items (snacks, soda, a movie, fast food). Ten dollars doesn’t seem like a whole lot of money, but when many people each give ten bucks, it adds up! Donations may be mailed to the address above, or made online via our Web site: www.nnpdf.org.

6.Encourage 10 contacts to check out our NNPDF October Awareness Online Auction! Bid high, bid often! http://www.biddingforgood.com/nnpdf/2010

Thank you very much for your help and continued generosity, on 10-10-10 and always! Those who live with the challenges of Niemann-Pick Disease need and truly appreciate your kindness and support, today and until the cure is found. Together, we will Persevere in Our Quest for a Cure!

Together, we can make a difference!

October is National Niemann-Pick Disease Awareness Month

Please help us maximize this opportunity to raise awareness and funds for vital research!

Shop the NNPDF Online Auction!

National Niemann Pick Online Auction

With Niemann Pick Awareness Month right around the corner I wanted to let you all know that the National Niemann Pick Disease Foundation (NNPDF) is having an online auction to help raise money for research and to help families who have children with Niemann Pick Disease. The NNPDF has been a great support system for us. We have meet many great people through the foundation and it comforting to know you can talk to peolpe going through the same things your are.

Please take a moment to visit the online auction and please bid generously!! There is a Brett Favre signed Viking jersey donated from the Brett Favre 4ward Foundation in honor of Tylor. We wrote the 4ward Foundation after Ty met him asking if he would donate something to either the Make A Wish foundation or the NNPDF. About six months went by and we didn't hear anything and then the NNPDF calls me to ask about the Favre jersey they received. I was so touched that Brett did that he is truly a giving man. Thanks Brett!!

1st ANNUAL RYDE 4 TYLOR

Tylor with his buddy Brad (a.k.a. Fat Head)

This past Saturday was the 1st Annual Ryde 4 Tylor! We had 60 bikes sign up for the ride so with the riders, their passengers and people in cars we had around 150 people participate. We were hoping for 50 bikes so I was very pleased with the turn out!!

If anyone is interested in t-shirts or koozies email me
at Rjenw97@aol.com

Tylor was really excited because he got to be the leader of the pack in an orange Semi that his Dad drove!! This was the talk of the day, all the riders thought this was so neat. The whole group followed him all the way to the first stop. It was so emotional to see the semi will all the bikes following and knowing they are riding for your son. After the first stop Ty was pretty tired so he left with his Dad as we continued the rest of the ride.

There he goes

We sold cookbooks, koozies, t-shirts and bracelets at each stop along with selling some 50/50s. One of the bars donated 5% of the bartenders tips to Tylor and another donated the money they raised from selling shots!!

This is so cool...

Giving everyone a thumbs up

Tylor with Amy and Curt, the owners of Knicker's

Making smoke for Ty

We want to thank all the volunteers, participating bars (especially Knicker's), riders (whether on a bike or in a car), and all the people we met along the ride. We all had a great time. See you next year for the 2nd Annual Ryde 4 Tylor!!!

Tylor says ROCK OUT everyone

On the way home