Researchers from all over the world are meeting on Notre Dame's campus this week. The group is discussing developments in the research of Niemann-Pick Type C disease.
NPC is a genetic disorder that causes your nervous system to deteriorate, which eventually affects your ability to move, speak, and process information. FOX28 News sat down with some of those scientists to discuss the research they're doing and the progress they've made so far.
Biology Professor Kevin Vaughan says developing a counter to the disease begins with identifying what causes it in the first place. "Without knowing what the problem is, it's hard to design drugs specifically to overcome the problem," explains Vaughan.
Norb Wiech with pharmaceutical company Lysomics says they are in the preliminary stages with the FDA of testing a drug that may slow the deterioration process. "All these ideas can't come to be meaningful unless get the information or use the information to develop a drug to treat them," says Wiech.
Notre Dame is involved with this research through former coach Ara Parseghian, who lost three of his grandchildren to Niemann-Pick Type C. His family established the Parseghian Medical Research Foundation in 1994 in hopes of finding a cure for the fatal disease.
On Monday Notre Dame Dean Greg Crawford will start a 2200 bike ride from Boston to Dallas to spread awareness. We'll have more from them Friday night at 10.
June 9, 2011
Road to Discovery
June 06, 2011
By South Bend Tribune Staff Report
SOUTH BEND -- University of Notre Dame science dean Gregory Crawford and his wife, Renate, will embark on a second cross-country bicycle ride to raise money for medical research.
The Crawfords will use the ride to support research seeking treatments and a cure for Niemann-Pick Type C (NPC), a rare and deadly neurodegenerative disease that primarily strikes children.
The couple will depart Monday on "Road to Discovery," a 2,200-mile ride from Boston to Dallas.
The Crawfords last summer biked 2,300 miles from Tucson, Ariz., to Notre Dame to celebrate Notre Dame's strengthened partnership with the Ara Parseghian Medical Research Foundation, a nonprofit organization dedicated to funding medical research projects to find a treatment for NPC and related disorders. Notre Dame's former head football coach Ara Parseghian lost three grandchildren to NPC.
http://www.southbendtribune.com/
June 4, 2011
First Camping Trip of 2011
Tylor went on his first camping trip of the year on Memorial Day weekend. We had a blast! He met a lot of new friends, did arts and crafts, rode is bike, and sat by the fire. We had to stay in the camper Sunday morning because of the rain but after that we took Ty out in his wheelchair for some mud boggin'. And boy did his wheelchair get dirty...oh well it just goes to show we can fun in the sunshine or rain!!
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| Blake and his bull frog he found. |
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| Tylor didn't care much for the frog |
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| The kids painting |
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| Taking a nap |
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| I asked Tylor if he wanted to get in the mud too but he said NO WAY |
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| Ty crashed Saturday night |
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| Tylor and Bono relaxing while we packed up to leave |
Great Job Tylor
Tylor had a dentist appointment a few weeks ago and he did so good. Most of you are probably saying come on everything Tylor's been through the dentist should be a piece of cake.....that's not the case. He hates getting his teeth cleaned and them looking around in his mouth. He has a very sensitive gag reflex so going to the dentist is not much fun except for this time. This time we left him in his wheelchair and just reclined it back. He did great and he was pretty relaxed. Plus no cavities!!!
June 3, 2011
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**
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**
May 3, 2011
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
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| 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.
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