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/.

Happy Birthday Dad

Today would have been my Dad's (Tylor's Grandpa) 69th Birthday! Happy Brithday in Heaven...we miss you and love you so much.

Bye Bye Charlie Brown

Tylor said goodbye to "his" bike today....Charlie Brown and the Great Pumpkin are moving on! Brad, aka Fat Head, is trading Ty's favorite bike in for a new one so we had to get some final pictures of Tylor and the Great Pumpkin....

Fat Head and Tylor

Thanks for the memories Brad, We Love Ya!!

Rare Diseases: Will push for new drugs pay off?

Cassidy Hempel, 6, waves at hospital staff with the help of her mother, Chris, at the Children's Hospital and Research Center in Oakland, Calif., Friday, March 18, 2011. Cassidy and twin sister, Addison, are being treated for a fatal disorder called Niemann Pick Type C disease. (Credit: AP Photo)

(CBS/AP)Call it the rare disease gap. Scientists have identified more than 7,000 diseases that affect fewer than 200,000 people, but treatments are available for just 200 of the diseases.


But now there's a move to close the gap. The National Institutes of Health this fall will open a center to speed genetic discoveries into usable therapies, doing some of the riskiest early-stage research in hopes companies then will step in.

A new International Rare Diseases Research Consortium is pushing for at least 200 more treatments by 2020, in part by pooling the work of far-flung scientists and families.

Rather than starting from scratch, the FDA is pointing the way for manufacturers to "repurpose" old drugs for new use against rare diseases, publishing a list of those deemed particularly promising.

And legislation recently introduced in the Senate, called the Creating Hope Act, would offer drug makers another financial incentive - a voucher promising fast FDA evaluation of their next blockbuster drug in return for developing a therapy for a rare or neglected disease that disproportionately affects children.

"We have to give drug companies a reason to go into this market," says Nancy Goodman of Kids v Cancer, a group pushing the legislation. Her son Jacob died at age 10 from a type of brain cancer that has no good treatment.

Pharmaceutical giants are starting to show some new interest in rare diseases, traditionally a niche market for small biotech companies. The practical reason: Blockbusters are drying up, says Dr. Ed Mascioli of Pfizer Inc., the world's largest drug company.

Some other companies, including Novartis AG and GlaxoSmithKline PLC, also have begun rare-disease programs.

But NIH Director Dr. Francis Collins says all the activity reflects a larger promise. "Getting a home run with a rare disease sometimes points you in a direction that will be beneficial for common diseases," he told The Associated Press.

That's the argument put forth by Chris Hempel, of Reno, Nev. Her 7-year-twin girls have been getting injections of an experimental drug for Niemann-Pick Type C (HPC), a disease that causes cholesterol and other fats to build up inside cells, harming the brain and other organs until patients lose the ability to talk, walk and swallow. Only 500 children worldwide are known to have it. But a drug that could flush out that build-up, Hempel contends, just might point to a new route to fighting heart disease or Alzheimer's.

Hempel isn't alone in her quest to repurpose common drugs. Consider progeria, a disease that rapidly ages children until they die of a heart attack or stroke, usually before their teens.

Collins' lab at NIH uncovered the gene defect behind progeria, research that he says he pursued only because of meeting another mom, Dr. Leslie Gordon, founder of the Progeria Research Foundation, and her son, Sam, who has the disease. Today, clinical trials are under way using a failed cancer drug named lonafarnib that promises to block some of the progeria mutation's effect.

There are an estimated 150 progeria patients worldwide, but Gordon points to growing evidence that the culprit protein may play a role in the heart disease that comes with regular aging, too.

** Taken from CBS News Health Watch **

Rare Diseases in the Spotlight

By Marissa Cevallos, HealthKey

1:55 p.m. EDT, April 27, 2011

Rare diseases are likely to get more attention now that an international consortium of patient advocacy groups and research funders has vowed to deliver 200 new therapies by 2020. For people with these diseases, such attention must seem long overdue.

Drug companies currently don’t have much incentive to develop drugs for diseases that affect fewer than 200,000 people, but almost 7,000 rare diseases exist affecting a total of about 25 million Americans.

Many are caused by mutations in a gene. The National Institutes of Health is opening a center in the fall to translate research findings in genetics to usable therapies, the Associated Press reports.

The NIH already has grant programs to spur research in rare diseases. The NIH's Therapeutics for Rare and Neglected Diseases program has a pipeline of projects. Its pilot projects offer a glimpse into some of the diseases that, though rare, can nonetheless have debilitating consequences.

—Schistosomiasis (also known as bilharzia or snail fever): Infection begins when a parasitic worm carried by freshwater snails penetrates the skin and lays eggs in blood vessels. First come rashes, then fever and chills, followed by liver and other organ damage over time. Researchers recently decoded the genomes of two schistosomiasis-causing parasites, which may allow researchers to find ways to inhibit the parasites’ growth. About 200 million people worldwide have the disease, and 280,000 die from it each year.

—Niemann-Pick Type C: In this condition, fatty deposits accumulate in the spleen, liver, lungs, bone marrow and brain. Type A, the most common, is fatal in infants. Type C can appear early in life or in young adulthood; it causes brain damage and ultimately can affect walking, swallowing, seeing and hearing. Only about 500 children in the world are known to have Type C. Researchers have found two genes that can contribute to Type C and Type D, but progress is slow.

—Hereditary inclusion body myopathy: Usually starting in young adulthood, the disease causes muscle-wasting, leading to severe disability in 10-20 years. A clinical trial in 2006 found mild benefits from intravenous immune globulin, essentially antibodies from blood plasma. A small gene therapy trial is underway, and stem cell therapies are being considered.

—Sickle cell disease: Crescent, or sickle-shaped, blood cells block blood flow in vessels, and can lead to stroke, organ failure or death. The disease affects about 70,000 to 100,000 people in the U.S., mostly African Americans. Only one effective medication exists to help prevent deaths. But a few children and adults have been cured by blood and bone marrow transplants.

—Chronic lymphocytic leukemia : This is the most common type of leukemia, a cancer of the bone or blood, found in adults. About 15,000 people are diagnosed each year (and about 101,000 people live with it).

The new consortium’s goal is to have 200 new therapies in nine years. Many people, in seemingly isolated disease groups, are waiting.

** Taken from the Baltimore Sun **

Ty was up for the Challenge

Yes it's that time of year again....Spring, which means Special Olympics Challenge day! But remember we do live in the Midwest so it was a good thing the event was held indoors because it snowed most of the day!! That sure didn't stop Tylor...even though he slept through his first event, team basketball. After his little rest he was ready to take on the rest of the events. He had a huge fan club that followed him throughout the day. His Dad, Step mom, sister, Liv and Kate, brothers, Will and Drew, Grandma Terri, Aunt Rach, Mom, Sy and his helper for the day Samy (his friend from school). He also was a torch bearer in the Opening Ceremonies...they read a bio about him and he passed the torch on to start the games. This was Tylor's third year participating in the Challenge day and he absolutely loved it.

Our little torch bearer

Warming up to YMCA

Making a cool picture frame with Samy and my sisters

You like??

Look Ty is awake

My FAN club

Look at all his ribbons and medal

God Bless

What has Ty been up to??

Hello Everyone!

Tylor has been a very busy little (or should I say big??) boy. A few weeks ago he had a speech evaluation to find out if there is a better way for him to communicate with us. Because the disease is not progressing like we thought it would he is still interacting very well but verbal communication is hard for him. The speech therapist suggested we look into DynaVox. This device looks kind of like the iPad, it is all touch screen but it talks for him. He will be able to take pictures with it and add descriptions. We got to try it out with a DynaVox sales rep last week and I think this will work great for Ty. Tylor should receive his in about three weeks. We have four weeks to try it and make sure that it is the right fit for Ty and if it is it's his!!! I am so excited about this...

Last weekend we took a road trip to Milwaukee so watch the Cubs/Brewers game! Of course the Cubs lost but being the die hard Cubs fans that we are you get use to it! Even though they got beat 6 to 0 Tylor had a great time. He was girl watching most of the game. On our way home we visited Tylor's Great Grandma Pearl, Aunt Janet, and Uncle Terry in Rosco, Illinois. He slept most of the time...he was tried after chasing all the girls at the game.

This week Tylor received a bike from therapy, they are letting us keep it for the summer. He lights up every time he is on it. He rides for about 45 minutes everyday....he is pretty tired when we are done. He thinks it's funny to go fast so I have to run along side of him, what a little stinker!