Not the Greatest News for the NPC Community

Well today there was a conference called held by the NIH and NNPDF to update the community on the Cyclodextrin trial.  The news was not what I was hoping for.  They had to put the trial on a pause status due to an infection at the ommaya reservoir site in two patients and another (who is not in this trial) suffered from a brain bleed.  The ommaya reservoir is like a port for a chemo patient but it is surgical placed in the front of the brain.  The infection was cause by bacteria that sits on the skin that causes acne.  At this time they are not sure if NPC patients are at a higher risk since this is a lipids disease or not.  But they knew they couldn't continue with the trial with so many problems and not enough answers.

They put in on hold and got in contact with the FDA who in turn put an official hold on the trial and will send the NIH a letter stating what has to be done to get the trial off the hold status.  The FDA was very pleased with the quick action by the team at the NIH for putting the trial on pause right away without first contacted them.  The NIH will receiver the letter sometime next week and will inform the NPC community once they have a plan of action in place.

Dr. Porter did add that they did collect some promising results from the trial thus far.  The bio-markers looked good and they got goo PK data.  These results where from the patients receiving a very small dose of the cyclodextrin.  Dr. Porter thought they would see nothing with this low of a dose, so that in itself is very hopeful!!

They do think that the infection was not drug related but device related.  So he did go on to say that they will be looking at a lumbar injection as means to administer the drug.  They do have concerns with how much of the drug will actually reach the brain but with the data collected from the trial he believes that they will be able to administer enough of the drug to reach the brain without causing toxicity. 

There is a lot of work ahead for the NIH team but they are committed to get this trial back up and running as soon as they can.  They could not give any kind of time line or dose levels at this time.  I will keep everyone posted as information comes to me.  Please say an extra prayer for the NPC community especially those in the trial that suffered an infection and the child who suffered a brain bleed.  Thank you and God Bless!!

Rare Disease Fight Song

Rally students of Notre Dame, 

Fight rare disease, and sound her fame

Raise her Gold and Blue, 

And cheer with voices true, 

In the fight against rare disease.

Fight rare disease in every game

Strong of heart and true to Notre Dame.

We will ne'er forget her

And we'll cheer her ever,

In the fight against rare disease.

Chorus:

Fight rare disease at Old Notre Dame

Ending their neglect and cheering her name, 

Send the volley cheer on high, 

 Shake all seven thousand down from the sky, 

What though the odds be great or small

Old Notre Dame will win over all, 

While her loyal students march

In the fight against rare disease.

NIH Clinic Trial is a GO!!!

UPDATE: FDA Approves NIH TRND Team for NPC Cyclodextrin Clinical Trial!

Posted: 11 Jan 2013 02:42 PM PST

Dear Families and Friends,

The NNPDF central office received the following update from the National Institute of Health (NIH) NPC Clinic from Dr. Forbes "Denny" Porter.

"We were informed today that the FDA has removed the clinical hold on the hydroxypropyl-β-cyclodextrin trial. We are planning to enroll the first patient in two weeks. This trial is a major step in trying to determine if this is a safe and biochemically effective drug for NPC. Our goal is to use data from this trial to optimize the design of a larger second trial focused on clinical efficacy. Thank you for your help and support!
The TRND Team"

To follow updates and breaking news visit the Cyclodextrin page on the NNPDF web site.

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.

NPC claims the life of a special boy

In Loving Memory of Gavin Lopez

Gavin, Johnathan, Dillion, and Tylor

I had the opportunity to meet Gavin and his family in Virginia at the Niemann Pick family conference. They are a wonderful family and Gavin was such a sweet little boy. I only wish I got to spend more time with this family. On October 30th Gavin lost his fight with NPC. Here are video clips from the Doctors taken just a few months ago.

Gavin and His Mothers Heartbreaking Story

How NPC affects the body

What Matters Most-A book written by an NPC Mother.

Book about the Life of Chuck Beckman (NPC)

to Benefit NNPDF's Programs of Research

Released just in time for October Niemann-Pick Disease Awareness Month, What Matters Most: Living with the Young Adult Onset of Niemann-Pick Disease Type C (NPC) is a new book by Rozetta Beckman about her family's journey through Niemann-Pick Disease.

NPC took the life of Rozetta's son, Chuck, at the age of 36. He was diagnosed with NPC as a young adult, after symptoms began to surface when he was about 18 years old.

Proceeds from the book will be donated to the NNPDF for research into NPC.

To see a preview of the book and to place an order, visit:
Hardcover edition      Paperback (color)     Paperback (bl & wh)    Downloadable ebook

Salisbury Students Perform, Give $1,000 to Race for Adam Foundation

After garnering the most votes in an online video contest, Casey Creveling and Alan Mendez finally got to present their $1,000 prize on Saturday to the charity for whom it was always intended: the Race for Adam Foundation, which funds research of Niemann-Pick Type C, a rare genetic disease.


The pair, who attend Salisbury High School, were inspired by Salisbury Middle School teacher Sean Recke's son, Adam, who has the disease. They wrote an original song, "Tomorrow Afternoon," for a video they entered in a contest to help charities, 1G for Good, sponsored by First Generation, a marketing firm in Allentown. The video received 136,820 votes and can be viewed at 1gforgood.com

On Saturday, they were joined by their bandmates in Identity Crisis, Tommy Walters and Danny Syvret, also Salisbury High School students, to present the check and perform for the Reckes at Cruise for Adam fundraiser at the Lucky Strokes Mini Golf Course in Bath.

NNPDF Family Conference 2011

This year the NNPDF Family Conference was held in Norfolk, VA at the end of July. Sy and I took Tylor along with Sy's Mom and Stepdad. We drove down, it took us about 18 hours. We arrive in Norfolk around 6:30am and I couldn't believe it the hotel had one room ready for us. So the five of us crashed for a few hours before hitting the sites.

Norfolk is beautiful! The view from our room was of the Naval ship yard and the Bay area. We did a little site seeing our first day there but it was also the start of the conference so we couldn't do a lot.

It was so nice to see the families we met in Seattle. We had over 225 people attend this years conference which makes it the biggest one to date!! There were a lot of new families so it was great to connect and bond with them. It is crazy how you can connect with someone you never met just because of this horrible disease. Also this year there were about 26 kids there....all I can say is WOW! I loved seeing all the kids interacting with one another. Our children are so precious.

Well I guess I should get on with what we learned at the conference.

On Friday we heard from Dr. Marie Vanier, she has been researching this disease for three decades, Dr. Dan Ory, Dr. Steve Walkley, and Dr. Fran Platt. This group of doctors gave an overview of NPC Disease research, Support of Accelerated Research (SOAR) updates, Updates on Miglustat and Cyclodextrin as therapeutics for NPC and combination therapy for NPC.

On Saturday we heard from Dr. Marc Patterson, Dr. Kasturi Halder, Dr. Dan Ory, and Dr. Denny Porter. This group talked about medical and clinical update. The topics included: NPC intro adn overview, assistance of undergrads in charaterizing clinical progression for NPC, biomarkers for NPC, development of the NIH Cyclodextrin clinical trial.

Through out the weekend we also did a lot of brainstorming on how to raise money for research for National Niemann Pick Awareness Month in October. We got to listen to the famous Humorist, Carol Ann Small, we learned about an iPad can help our children communicate with us better and of course we had a beautiful banquet dinner to end the conference.

Carol Ann Small

I talked with Dr. Kasturi Halder, she is the Director at the Center for Rare and Neglected Diseases at the University of Notre Dame, about sending Tylor's medical records for the students to review. She was glad to take my information becasue with so few cases they are always looking for new NPC families. I am in the process of gathering all the medical records, I am only waiting on one doctor to get back to me.

I also talked breifly with Dr. Denny Porter, from NIH, about getting Tylor down there for the the NPC Natural History Study. He told me he would be glad to see Tylor and to call Nicole, his assistance, to set up the appointment. Nicole and I talked shortly after we got back. She explained that they would be performing all the test Tylor has had over at the NIH. That means more EEGs, MRIs, another skin biopies and spinal tap, a lot of blood with be taking, eye and hearing exams, and much more. So at first I thought do I really want to put Ty through all this again??? This information they gather from Tylor may help in the future and who knows maybe we will find out how it is processing in him. So we deceided to go for it. So Jill, Ty's Stepmom, Tylor and I are leaving Decemeber 4th and will return on December 9th!! We will keep you posted on how this go down there.

Well know on the the fun stuff...

After the conference we toured around Norfolk. We went on the SS Wisconsin and we drove on the Chesapeake Bay Bridge/Tunnel. That was so cool and weird at the same time. We also visited Grandma Mulgrew's brother in Maryland. We spent a day in D.C. and also got a little bit of relaxation time in before we had to go home. Here are some pictures!!

Virginia Beach

The fishing pier in Virginia Beach

Ty on the SS Wisconsin

See how the bridge goes under the water

Sy and Ty at the Capitol

Tylor and I with the Wright brothers

Eating Crab on the beach

Rachel Taylor "Here for You Always"

A video/slideshow montage of NNPDF families created in honor of those who love and support us. Many thanks to singer/songwriter Rachel Taylor for allowing us to use her song, and thanks to the families who responded to our request for photos! Special thanks to the NNPDF volunteers who so lovingly created this video. For more of Rachel's music, please visit www.racheltaylormusic.com. For more information about Niemann-Pick Disease visit http://www.nnpdf.org/

Dad raises £100k for son's life saving drug

Jun 9 2011 By Lucy Cork, Buckinghamshire Advertiser


AN 'EXHAUSTED' super dad has finished a 925-mile cycle ride from Land's End to John O'Groats, raising a huge £100,000 for a drug that could save his son's life.

David French, of Ledborough Lane, Beaconsfield, set off on Friday, May 27, with supportive team-mates, after months of training and fundraising. It has been his way of giving his family 'hope' for the future.

Mr French's son William, nine, was diagnosed with Niemann-Pick Disease, Type C (NPC), a crippling and very rare degenerative disease also known as childhood Alzheimer's, when he was six months old. Only 80 people in the UK are known to have the disease.

The money raised through this cycle challenge will go directly to applying for a UK trial of a life-saving drug that is currently only available in America.

Mr French said: "This is what my wife Sue and I are now turning our attention to.

"It has been quite a trip and we never dreamed of raising £100,000. Now we have more work to do for William."

William's condition means that he cannot deal with the everyday challenges of life. He needs help getting dressed, eating meals and almost anything involving motor skills.

A determined Mr French cycled for 10 days, which included a multi-bike pile-up on day eight, resulting in a somersaulting rider, 24 hours of constant rain and three broken wheels. The hard work came to an end at 3.33pm on Sunday, June 5.

The intrepid team, including Jeff Corrigan, Graham Rogers and Jeremy Tipper, were joined by William for the final few miles, who rode alongside in a pull-along bike.

Mr French said: "It was such a great feeling to finish by seeing about 30 friends and family cheering and clapping. The support we have received has been incredible. It is a fantastic feeling.

"Nine years on and the NPC world has seen a huge investment of research funds, particularly in the US and that is beginning to pay dividends.

"We very much believe in his future and are determined to do all we can to make that a reality."

Ducks afloat for NPC

TURLEY — Ducks for Bucks is a non-profit organization created in memory of Breann Chavez who passed away at the age of 3 from Niemann-Pick Disease. Families faced with NPD are faced with a small window of time with their sick child.

Ducks for Bucks was created to help alleviate some of the financial burden these families face so they can focus on enjoying the few years they have with their child. Ducks for Bucks 2011 will take place at Wines of the San Juan, from noon to 5 p.m. on Saturday.

This is a family fun day filled with live music, games, raffles, silent auction, food, wine tasting and entertainment for kids of all ages, along with the annual Dainty Duck Dash, a rubber duck race with chances to win cash prizes.

Niemann-Pick Disease is a term for a group of diseases which affect the metabolism and which are caused by specific genetic mutations. NPC is a genetic disease in which the body does not break down cholesterol and instead stores it inside major organs - like liver, spleen and brain. This storage leads to many complications both physically and neurologically and begins to deteriorate the bodies of the young victims it attacks.

The three most commonly recognized forms of the disease are Types A, B, and C. The National Institutes of Health has referred to NP-C as “childhood Alzheimer’s” because of the neurological similarities between the two diseases.

At this point, there is no cure for NPD. All cases are fatal, which makes time incredibly valuable to these families.

For most families facing Type C, neurological symptoms begin appearing between the ages of 4 and 10, with children appearing completely normal until this point. Generally, the later neurological symptoms begin, the slower the progression of the disease.

Once the neurological breakdown begins the body follows. These children lose all mobility; they lose their ability to speak, play, and even eat, leaving many of them to get their nourishment from a feeding tube.

Many suffer with seizures, and other pains they cannot express, leaving caregivers constantly guessing. The vast majority of children die before the age 20 and many die before the age of 10.

NPD is a genetic disease in which both parents must be carriers for their child to become affected with the disease. Each child has a one in four chance of having NPD.

Due to the late onset of the disease, many parents do not realize they are taking this risk until it is too late, resulting in many families with multiple children dying from NPD.

Ducks for Bucks is recognized by the IRS as a public charities non-profit and does have a 501(c)(3). All money raised goes directly to helping families with whatever their greatest need is at the time.

For some that means medical bills, co-pays, and equipment. For others it is just unexpected daily living expenses due to their child’s illness. Those not abe to attend the race in person may purchase a rubber duck for $5 online.

Although you will not physically receive your duck, it will be entered in the Dainty Duck Dash for a chance to win $1000 cash for the first place duck.

$500 will be awarded for second place and $250 for third. Winners do not need to be present to win.

Visit the website to start your duck in training today for the big race.

For more information, call (505) 632-7649 or go to http://www.ducksforbucks.org/

**Taken from the Farmington, New Mexico Daily Times**

Adam Recke to be featured on the Kathie Lee and Hoda program

Adam Recke (NPC) will be featured on the Kathie Lee and Hoda program on Thursday, May 5, during the 10:00 hour.  Adam is the 12-year-old son of Sean and Amy Recke of Pennsylvania.  Tune in to NBC to see Adam on the "Everyone Has a Story" segment.

DART Gala set for May 20th~Funding NPC Research

The Marella family created Dana's Angels Research Trust after two of their children were diagnosed with
Niemann Pick Type C

Greenwich residents Phil and Andrea Marella are fighting to find a cure for a rare genetic disease that afflicts two of their children. “We were shocked when we found out,” Andrea said of her children's diagnosis. “But we’ve seen great benefits from the research we’ve been able to fund. … We’re parents working to raise money for research, looking to save our own children. We want everything possible done.”

Dana and Andrew Marella have been diagnosed with Niemann-Pick Type C disease, often referred to as “children’s Alzheimer’s.” The family formed its own organization, Dana’s Angels Research Trust, to fight the disease. It causes progressive deterioration of the nervous system because of an interference in the body's ability to metabolize cholesterol. It leads to neurological problems that impact the ability to walk, talk and swallow. Typically children diagnosed with the disease rarely live past their early teens. Only 200 cases of Niemann-Pick Type C have been diagnosed in this country, two of whom are the Marella children.

Dana, a 17-year-old senior at Greenwich High School, was diagnosed at age 8. She could not receive a drug trial medication, known as Zavesca, until she was older. She now uses a wheelchair, can no longer speak and requires breathing treatments. Her brother Andrew, an 11-year-old at Central Middle School, was diagnosed at age 5 and started treatment at a younger age. Both children are already beating the odds.

“When [Dana] was diagnosed, we watched the steady deterioration. She began leaning on walls, then it was needing a walker and now she’s in a wheelchair,” said Andrea. “Andrew is a little miracle. We do attribute that to medications he was able to start earlier. There isn’t total approval of the medication yet, but we’re working with the drug companies on it.”

Dana's Angels Research Trust funds medical research, medical education and medical treatment to find a cure. “Whenever you have this situation with a rare disease, fundraising is family foundation oriented, so you don’t have larger organizations to rely on,” said Phil. “We’ve luckily been able to use 95 percent of what’s raised.” The foundation has collected more than $2 million since it started to fund research at five labs around the country.

The Marellas have not given up. “We have faith that our two kids will be fine,” said Andrea.

On May 20, the trust will hold its Annual Gala Benefit and Concert at the Palace Theatre in Stamford, featuring ‘60s singing group Frankie Valli and the Four Seasons. The 1960s rock-and-roll-themed event will be hosted by Kathie Lee and Frank Gifford. The Marellas said they have also recruited Regis and Joy Philbin for the silent auction. New York City’s famous Rao’s Italian restaurant will provide a pasta bar from 6 to 6:45 p.m.

Concert tickets are $45, $75 and $125 and are available online or at the theater box office. Gala tickets start at $300 and include the reception before the concert. Gala tickets are available on Dana’s Angels website.

Race for Adam~Raising money for NPC Research

With his wavy blond hair, big blue eyes and healthy glow, 12-year-old Adam Recke appears to be the picture of health. He loves to play sports and listen to music.

But Adam has Niemann-Pick Type C, a rare and fatal neural degenerative disease most people have never heard of and for which there is no cure--- yet.

“It’s more than a rare disease, it’s an ultra rare disease,” said Adam's father, Sean, a technology teacher at Salisbury Middle School.

“To be considered a rare disease in the United States, the disease has to affect less than 200,000 people. Niemann-Pick affects less than 200 people in the U.S. and it only affects five families in Pennsylvania,” Recke said.

People with Niemann-Pick Type C are unable to metabolize cholesterol and other lipids properly within their cells. As a result, excessive amounts of cholesterol accumulate within the liver and spleen and excessive amounts of other lipids accumulate in the brain. Most children with the disease die before age 20.

When Recke's colleagues at Salisbury Middle School learned of his son's devastating disease, it spurred them to action.

In 2005, Matt Tobias, a social studies teacher at Salisbury Middle School, created the Race for Adam Foundation to help raise money to find a cure for Niemann-Pick Type C. On Saturday, May 7, the organization will hold the sixth annual Race for a Cure 5K run/walk at Lehigh Parkway in Allentown. The event will feature live music, food and raffles. Participants in the race will get a T-shirt that says "I believe," designed by Michelle Dang, a ninth-grader at Salisbury Middle School.

Scott Marshal, an instructional aide at Salisbury Middle School who is also a singer/songwriter, was inspired by Adam and wrote and recorded a song about him, titled “With Every New Day (I believe).”

“Adam is a really special kid—full of life, full of love, full of all the good things and all the wonderful things that make being a kid great,” Marshall said, tears brimming in his eyes.

While recording his album, Marshall mentioned the song to the producer. Management then told Marshall they wanted to release song. The song is available for 99 cents on iTunes and all proceeds benefit the Race for Adam Foundation.

“We really hope to raise awareness. If enough people buy it, it’ll chart on the Billboard charts. This could open doors for national exposure to Adam’s story.” Marshall said.

“It’s all about finding a cure,” he said.

Salisbury Middle School has rallied behind the Reckes, organizing various fundraisers over the years, often in the spirit of fun, with outrageous contests, such as the time some teachers slept outside and others shaved their heads. The school has posted numerous collection jars. In addition to the "I believe" T-shirt, they also sell two one that says “persevere” to raise money to find a cure for Niemann-Pick Type C.

It has not been an easy journey for Sean and his wife, Amy, and their two other children, Josh, 16, and Katie, 14, who live in Bethlehem Township. It took six years for Adam to be diagnosed, even though Sean and Amy knew right away that he was ill.

Adam was jaundiced when he was born, but doctors told the Reckes it was nothing to worry about and to expose Adam to sunlight. After taking Adam to the hospital the fourth time, the doctor finally drew blood. When the results came back, the Reckes were told to take Adam immediately to St. Christopher’s Hospital for Children in Philadelphia.

“His liver was so out of whack he almost died," said Sean Recke. "They didn’t tell us until after we left.”

At that time, Adam was misdiagnosed with neonatal hepatitis. From there, the Reckes kept taking Adam from hospital to hospital looking for answers. Finally, when Adam was 6, doctors performed a skin biopsy and confirmed the diagnosis of Niemann-Pick Type C.

With a mix of anger and sadness on his face, Recke recalled the day he and his wife were given the diagnosis. The doctor, with no bedside manner, told the couple to take Adam home because there was nothing he could do for them. He coldly told them there was no way the family could afford an experimental treatment. To make matters worse, the doctor could not find Adam’s medical paperwork, Recke recalled.

Although devastated, the Reckes did not give up hope. They researched the disease and found doctors with more knowledge about the disease, such as Dr. Marc Patterson, a pediatric neurologist at the Mayo Clinic, who has been trying to find a cure for the last six years.

Always looking for ways to help his son, Sean Recke attended a U.S. Food and Drug Administration panel on an experimental drug for Niemann-Pick Type C. Although approved in other countries, the FDA did not approve the drug due to the side effects--- diarrhea and bone growth issues.

Despite the lack of FDA approval, Adam takes this medication and does not suffer any side effects, Recke said.

Adam, now a sixth-grader at East Hills Middle School in Bethlehem, is doing well, his father said. Beaming with pride, he said Adam is popular and always smiling.

“He is living life to the fullest,” Recke said.

For more information, visit http://www.raceforadam.org/.

Leah's story

A HEART-rending documentary about a little Fleetwood girl who captured the town’s heart was screened on prime time TV this week.

AN ITV crew spent two-and-half years filming Leah Garfitt, who suffers from the genetic illness Niemann Pick Disease Type C, and her family in Fleetwood.

Leah, who is nine years old and attends Red Marsh School, Thornton, is one of only 500 children in the world suffering from the disorder which attacks the nervous system.
It has already robbed the pretty youngster of the ability to talk and walk, and she now has numerous other problems including dementia.

And tragically, the illness is likely to cost the youngster her life before she reaches the age of just 15.

However, from Leah’s heart-breaking story film maker Chris Malone has created a film which he says is uplifting and carries a message of love, bravery and down-to earth determination.

The programme, Leah’s Dream, was broadcast on Tuesday, March 1, at 9pm on ITV1.

Manchester-based Chris told the Weekly News: “There is a sad story at the heart of it because of Leah’s illness, but in many ways it is uplifting.

“It is a love affair between a little girl and her devoted mother, Lindsey Patterson, who has to come to terms with her daughter’s illness, and the strength of their family when things are tough.

“Lindsey then also has to face up to her own illness when she is diagnosed with a brain tumour and almost dies on the operating table.”

Chris added: “The film is also about the community of Fleetwood.

“When I started filming in Fleetwood I fell in love with this place; the community is so warm and down to earth.

“Everyone seems to know Leah and there is a lot of love for her in the town.”

Well known places in Fleetwood were featured in the film, including the Ferry Cafe, the beach and promenade.

The TV film also touched on Leah’s trip to Disney World on Florida.

Funds for this once-in a lifetime trip were during a Weekly News campaign which raised an astounding £10,500 plus over 2007/8.

Fleetwood’s community responded magnificently with fundraisers and donations large and small, ensuring that Leah could enjoy the special trip while she was well enough.

Tragically, today such a trip would be impossible because Leah is not well enough.

The film starts at Leah’s seventh birthday where she is celebrating and singing along to High School musical, and follows her for the next two-and-half years.

Lindsey tells the programme about how Leah was diagnosed with Niemann-Pick as a baby after she noticed her little girl seemed tired and fragile.

Both Lindsey and Leah’s father, Michael Garfitt, carry the gene but were unaware of it.

Lindsey, of Wansbeck Avenue, Fleetwood, says in the documentary: “Not too sure what the future holds for Leah. To be honest and true, your living in limbo.”

And dad Michael says of his precious daughter: “She has taught me to care for people more, I think.

“Just to enjoy what you’ve got.”

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

Fishing for Charities Tournament Trail Featured in Online Fishermen Magazine

The Online Outdoorsmen magazine, Online Fishermen, recently published a story about Fishing for Charities, a fishing tournament trail which raises funds for charitable causes, including Niemann-Pick Disease. Dwayne Linkous, father of 14-year-old Raiden Linkous (NPC), coordinates the tournament trail with the help of some good friends and fishing buddies.

Check out the story on the Online Fishermen (scroll to pages 46-47) or visit the NNPDF's NewsLine page for a link to a JPG of the article.

The NNPDF will be the recipient of funds raised on May 28, 2011, at Claytor Lake, Virginia, in honor of Raiden Linkous (NPC).

Taken from the NNPDF blog

For full details including registration information, rules, etc., please visit http://www.fishingforcharities.net/."

God Bless

New Year New Hope

Now with the Holidays behind us and a new year ahead I look for new hope. Hope that the doctors and researches with come up with a promising treatment for Niemann Pick Type C (NPC) and that it can be made for all children affected by this horrible disease. Over the past couple of years there has been a lot of talk about Cyclodextrin treating NPC. Chris and Hugh Hempel and Bryan and Laura Hadley have both their children on it. I have talked to Dr. Patterson about it many times and he feels there is not enough data to support the effects of Cyclodextrin on NPC to put Tylor through the procedures. But on the other hand how can we just sit here and do nothing? I am in the process of doing more research and will be contacting the Hempels and the Hadleys about the results they are seeing with their children. We are going back to Mayo in February and I plan on talking to Dr. Patterson about this again. The biggest hurdle will be going to the FDA for approval but if the Hempels and Hadleys got it done I am sure they will have some advise for us.

Some of you may be wondering what Cyclodextrin is. Cyclodextrin is a sugar molecule used in common food and household products like Febreze® Fabric Refresher called Hydroxypropyl Beta Cyclodextrin(HPßCD). To find out more please visit the CTD Holdings, Inc website.

God Bless

3rd Annual World Rare Disease Day

Chris Hempel is very active in searching for a cure for Niemann Pick Type C (NPC) and other rare diseases. Chris has twin daughters, Addi and Cassi, who have NPC. She has huddled many obstacles over the past couple of years. Chris and Hugh along with other families, like the Hadleys, and a team of reachers started SOAR (Support of Accelerated Research). She and her husband are working very hard for all the NPC families and I thank them for that. NPC research continues to move forward and with parents like Chris and Hugh there is no way but UP.

By: Chris Hempel

"The National Institutes of Health (NIH) will celebrate the 3rd World Rare Disease Day on February 28, 2011, with a day-long celebration and recognition of the various rare diseases research activities. The event will be held in the Lipsett Amphitheater from 8:30am to 5:15pm. Dr. Francis Collins is expected to speak. A tentative agenda has been posted.

In association with the Global Genes Project, the NIH Office of Rare Diseases Research is encouraging all attendees to wear their favorite pair of jeans to the event to support the Global Genes Project awareness campaign. The Global Genes Project awareness campaign is designed around a denim blue jeans theme and a blue denim ribbon which has become the unifying symbol of hope for the rare disease community worldwide. Check out our kid volunteers who make ribbons!

Denim blue ribbons will be distributed at the event and the Global Genes Project will be bringing some of the 7000 Bracelets of Hope which have also been made by volunteers around the world to represent the 7000 rare diseases that afflict an estimated 250 million people globally.

Supporters from the NIH Clinical Center, the NIH Institutes and Centers, the Health Resources and Services Administration (HRSA), the Food & Drug Administration’s Office of Orphan Product Development (OOPD), the National Organization for Rare Disorders (NORD), and the Genetic Alliance will also be at the event.

Attendance is free and open to the public. Unfortunately, I will not be able to attend as Pfizer is holding a World Rare Disease Day 2011 event the same day and I have been invited to speak along with other rare disease advocates."

Frequently asked Questions about NPC

I came across this blog that Hugh Hempel, Addi and Cassi's Daddy, posted. Of course I know the questions and answer because we live it everyday but for most of you it is still a disease with so few faces. It is still hard for most to understand and therefore it is difficult to spread the word about a disease you don't really know about except that Tylor has it and it is fatal.

I really felt it was important to share his post with you and I hope you will pass it along. Also a great idea would be to print it out so you have the information handy if anyone asked you about NPC.

The video above is done by the Hadley family. This video is very powerful! It explains about NPC and how they family is coping with this disease.

Thank you Hadley's and Hugh for sharing your stories!!

FREQUENTLY ASKED QUESTIONS

What is Niemann Pick Type C disease?
Niemann Pick Type C is a lysosomal storage disease (LSD) which is a genetic disorder caused by abnormalities in genes or chromosomes. There are group of over 50 lysosomal storage diseases that result from problems in lysosomal function. Every 30 minutes, a child is born with a LSD.

Addi and Cassi were born with two genetic defects on Chromosome 18 on the Niemann Pick Type C gene. Everyone in the world is born with the Niemann Pick Type C gene and could not survive without it. The gene regulates cholesterol metabolism in the human body and there are approximately 500 cases in the world.

In Addi and Cassi’s case, their double genetic defect causes harmful amounts of gangliosides, a very complex type of lipid, to collect in their cells (not blood) and clog them up. The cholesterol accumulation leads to cell death. As cells die, this causes neurological deterioration and also problems with the liver and spleen.

Impaired ganglioside metabolism may also be highly relevant to Alzheimer’s disease. In fact, Niemann Pick Type C is often referred to as the “Childhood Alzheimer’s.”

What are the first symptoms of Niemann Pick Type C disease?
Symptoms vary from person to person. We hear common threads when we talk to parents: jaundice at birth, enlarged liver and/or enlarged spleen, ataxia, cataplexy, and seizures. Organ enlargement is often prolonged and unexplainable. If a child has trouble with balance and coordination in combination with these other symptoms, this could also be an early sign of Niemann Pick Type C. Wikipedia has a complete outline of NPC symptoms.

How did Addi and Cassi get Niemann Pick Type C disease?
Genes are found in 23 pairs within the human body. When a child is conceived each parent passes one gene from every pair of genes to their child. Addi and Cassi inherited two affected Niemann Pick Type C genes at conception. For a simple and informative overview of how we inherit our genes, visit Pathway or 23andme.com

How did Mom and Dad end up with faulty Niemann Pick Type C genes?
Just like Addi and Cassi, we inherited the affected genes from our parents on both sides of our family. Genes are passed down from one generation to the next. We both carry one good copy of the Niemann Pick Type C gene and one bad copy of the Niemann Pick Type C gene. Since we only have one affected gene we are simply considered “carriers,” and we do not exhibit the disease. However, it is unclear if carriership of a faulty NPC gene could impact our health over the long term.

Did you know you were carriers of a defective Niemann Pick Type C genes before you conceived?
No. We had no idea we were both carriers of a faulty NPC gene. Their was no genetic or prenatal testing to detect it. A few new genetic testing companies are now testing parents for rare genetic defects such as Counsyl, 23andme.com and Pathway Genomics.

Are there medications available to treat Addi and Cassi?
There is one drug called Zavesca (Migulstat) that is in the second phase of a clinical trial. Zavesca is the only drug currently recognized to “possibly” provide benefits to Niemann Pick Type C patients. The drug has been approved in the European Union but not yet the United States. Zavesca is used to treat Gaucher’s disease and was approved by our insurance company “off label” to treat Addi and Cassi. Off-label use is the practice of prescribing drugs for a purpose outside the scope of the drug’s originally approved label. It costs approximately $160,000 a year to have Addi and Cassi on Zavesca.

In April 2009, the U.S. Food and Drug Administration (FDA) granted special permission under its “compassionate use” program for Addi and Cassi to receive intravenous infusions of 2-hydroxypropyl-β-cyclodextrin, a non toxic sugar compound. Addi and Cassi are the first children in the United States to receive experimental treatment with this compound and are currently undergoing treatment at Renown Regional Medical Center in Reno, Nevada.

How do you get the drug Zavesca?
Blue Cross approved Addi and Cassi for off label use of Zavesca. Insurance companies make the decisions to provide this drug on a case by case basis. We receive Zavesca each month through the mail from Curascript, the only provider of the drug in United States.

How do you get Cyclodextrin?
Cyclodextrin is not a controlled substance and it can be obtained. We have created and submitted a special treatment protocol to the FDA in order to give Addi and Cassi cyclodextrin treatments in a hospital setting. A company called CTD, Inc. in Florida is a supplier of various cyclodextrins in the United States.

How is Addi and Cassi current health?
The girls are “hanging in there” as we like to say. They currently have enlarged spleens and mildly enlarged livers which are not causing many issues at the moment. They exhibit a number neurological symptoms and are having difficulty with gross and fine motor skills. Their ability to speak has been lost but they are still walking and recognize us. They are very loving and affectionate little girls and we are incredibly blessed to have them in our lives.

Do Addi and Cassi know they have Niemann Pick Type C?
No. Addi and Cassi do not understand they are sick and we are working on keeping our lives as normal as possible for as long as possible.

What is the progression of the disease? Does NPC move slowly in some and more rapidly in others?
Niemann Pick Type C disease acts differently in all people and doctors are unable at this time to give us any indication of how fast the disease will progress in Addi and Cassi. People who have the disease have different symptoms and rates of progression, even kids in the same family with the same genetic mutations. Addi and Cassi have early onset childhood symptoms — there are also a few cases of adult onset. NPC is most commonly a childhood illness.

Will Addi and Cassi die from NPC?
Niemann Pick Type C disease is fatal. We are doing everything in our power as parents to not let this happen to our beautiful twins. We are extremely aggressive in treating our children and have designed a strategic plan to try and stop this cholesterol disease from causing more damage. We are looking into additional experimental therapy options beyond Zavesca and Cyclodextrin.

Will diet help control Niemann Pick Type C disease?
Doctors say that diet is not considered impactful in the management of the condition but we are trying an extremely low cholesterol diet. We believe that diet does play some role in this condition. Our bodies naturally make cholesterol. The fact is people don’t need to ingest cholesterol because we all make enough cholesterol naturally to survive.

Addi and Cassi’s condition is thought to be influenced by the kind of cholesterol their bodies make naturally. For some reason the natural cholesterol they produce stays trapped inside their cells. Cholesterol accumulates and slows down cells leading to cell death. The best way to think of this is to imagine a cellular traffic jam. As this traffic jam of cholesterol occurs inside the body, it starts to cause a variety of debilitating neurological and physical problems.

How did Addi and Cassi receive their NPC diagnosis?
As we have come to find out, Niemann Pick Type C is often overlooked by doctors and children with the disease can often go undiagnosed for years. It took us close to two years to receive a diagnosis of NPC.

When Addi and Cassi turned two, they contracted a severe case of infectious mononucleosis. During an abdominal exam by our local pediatrician, she noticed that Addi and Cassi had enlarged spleens. Spleen enlargement is a common side effect of mononucleosis and at the time there was very little cause for concern. Over the next year and a half, we took Addi and Cassi to Stanford multiple times. Stanford ran a series of tests ranging from genetic testing (including Niemann Pick A and B), hematology tests and immune system deficiency tests. Nothing unusual showed up in Addi and Cassi’s blood or urine and their spleens were functioning well despite the enlargement.

When Addi and Cassi’s spleens remained enlarged for a prolonged period of time, we started getting extremely worried. We decided to seek a second opinion. More tests were conducted by Children’s Hospital Oakland. A volumetric CT scan was conducted which showed slight liver enlargement in addition to spleen enlargement in both girls. A whole series of serious lysosomal storage disorders were then tested for and ruled out.

We started noticing that Addi and Cassi were having problems with their balance and issues of “spaciness” after ingesting foods. We insisted on more genetic testing. At that time, we were told by Stanford that Addi and Cassi could possibly have Niemann Pick Type C disease.

We recommend that if your child has an enlarged spleen, they should be tested for storage disorders, including Niemann Pick Type C.

How do they test for NPC?
Testing for Niemann Pick Type C is extremely complicated. In some cases, it can take up to 3 months for an answer from DNA and molecular testing. We embarked on a different path for an answer.

Based on a recommendation by Dr. Patterson at Mayo Clinic, we were able to receive a preliminary diagnosis in10 days based on a specific kind of test conducted by electron microscopy. Since Niemann Pick Type C can’t be detected in the blood, Addi and Cassi had small skin biopsies taken from the back of their arms. We had two samples taken from each and they received a small “kitty whisker,” or stitch on their arms.

One biopsy was placed in a glutaraldehyde solution for the examination by electron microscopy which was done by Stanford’s neuropathology department. This particular test looks for intracellular inclusions (or polymorphous cytoplasmic bodies) and this test came back positive which gave us the early indication of NPC.

The second skin biospy was sent in sterile water for a cultured fibroblast study. This is cholesterol trafficking test (measuring cholesterol esterification) and free cholesterol accumulation (by filipin staining). Researchers watch the skin sample grow in a dish and see what happens with cholesterol. It can take many weeks for a cultured fibroblast result. Sometimes the skin samples do not grow requiring the testing to be redone. Another way to test for NPC is through a bone marrow aspirate to evaluate for inclusions, storage cells and sky blue histiocytes (we never had to do this).

Final determination of NPC must be made by molecular analysis (DNA testing). Because two distinct genes can cause the disease, and more than 250 mutations have been described, molecular analysis can be time consuming and can take many months as well.

What types of special therapy will Addi and Cassi need?
We will be placing Addi and Cassi in speech, physical, occupational and vision therapy (if we can find this service locally). We are currently working to add in these types of services to our daily routine in addition to their special needs school program.

Are Addi and Cassi in regular school?
Yes. Addi and Cassi attend Brown Elementary, a local elementary school and that has special needs programs. We have no idea what to expect with school or how certain medications will react in their systems. We will need to make decisions on their schooling over time. Our ultimate goal is to make life as normal as possible for Addi and Cassi.

What should I say when I see you? Do you want to talk about this?
Don’t be afraid to approach us to talk about the girls. We are not in crying mode, we are in action mode. We have made great strides over the past two years and hope is increasing everyday.

How are you coping?
As well as can be expected. We remain optimistic that we can find therapies for Niemann Pick Type C and 100% of our focus is on this goal.

Common Questions taken from addiandcassi.com