March 26, 2011

Ty's in Springfield making a splash!!

Sy's family reunion was this weekend in Springfield, Illinois! It is always a little hard on Tylor to travel and be out of his route but he had so much fun.  He got to spend time with his cousin's and swim! He had a blast in the pool! He splashed me a lot...but don't worry I got him back. Here are some pictures from the weekend. I hope you enjoy them.

March 23, 2011

Breakthrough at Notre Dame

Artical from the Wall Street Journal
By Amy Dockser Marcus

Researchers at Weill Cornell Medical College and the University of Notre Dame said they used drugs being tested for cancer to correct a cholesterol-storage defect in a lethal, rare disease called Niemann-Pick Type C (NPC).

The researchers found that a compound called LBH589, part of a group of drugs called histone deacetylase (HDAC) inhibitors, corrected the defect in human NPC cells in a lab setting. The LBH589 compound is being studied in clinical trials to treat several forms of cancer, including brain cancer. The idea of repurposing drugs used in more common diseases to try to treat rare conditions is an increasingly popular approach to drug development.

The finding, published this week in the Proceedings of the National Academy of Science, is considered early stage since the experiments were done in tissue culture models of NPC, a genetic cholesterol-metabolism disorder that is ultimately fatal. Typically, promising compounds are then tested in an animal model before being tried in humans. Compounds that work in cells are not always effective in animals or humans.

Paul Helquist, one of the authors of the PNAS paper and a professor of chemistry and biochemistry at Notre Dame, says the researchers are hopeful that the class of inhibitors might be useful not only in NPC disease but in other neurodegenerative disorders where lipids inappropriately accumulate in cells. He said that they would like to test the compound in a cat model of NPC disease.

The paper comes at a time when the NIH is gearing up for a clinical trial involving another promising compound, cyclodextrin, that has been tested in animal models and is being given experimentally to a small number of children. Last week, NIH director Francis Collins discussed the NIH’s NPC efforts in a webinar sponsored by the FasterCures organization.

It isn’t easy to get clinical trials going in rare diseases like NPC, which affects only an estimated 500 people world-wide. The number of patients is so small that it is difficult to attract pharmaceutical company interest. As a result, unusual partnerships are sometimes needed between patient advocacy organizations and researchers to try to drive research and trials.

The PNAS paper represents one such partnership. The research was funded in part by the Ara Parseghian Medical Research Foundation. Parseghian, the former Notre Dame head football coach, had three grandchildren who died from NPC.

Last summer, the Notre Dame College of Science dean and his wife biked over 2000 miles from Tucson — where the Parseghian Foundation is based — to Notre Dame to raise awareness about NPC. The foundation set up an endowment at Notre Dame last year to support research into and an annual scientific conference about the disease.

Among the programs, Notre Dame offers an undergraduate course at its Center for Rare and Neglected Diseases to teach undergraduates how to collect and analyze data from NPC patients. Notre Dame also has a program open to researchers who want to synthesize potential drugs for use in experiments or trials in rare or neglected diseases, including NPC.

Photo: Associated Press

March 4, 2011

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

Calum Burdon and John Higgins
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.


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

Yum Yum

This week Tylor got a very special package in the mail from Rich, a counselor from Albrecht Acres. He lives in the UK. He sent Tylor a ton of British candy and a letter.

Thank you Rich!! Tylor's face lite up when I read him your letter. He was so happy to hear from you and he loved the candy. And yes Tylor is going back to camp. Take care and we will see you this summer.