Dr. David Fajgenbaum to receive rare autoimmune and immunological disorder research grant at Young Investigator Draft presented by CSL Behring


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The Young Investigator Draft is the result of Uplifting Athletes’ ongoing commitment to cultivate resources that accelerate scientific advancements for rare disease treatments and potential cures while facilitating the next generation of rare disease researchers.

These Young Investigators will pursue rare disease research in one of five different areas: rare cancers, rare autoimmune and immunological disorders, rare blood disorders, rare genetic disorders and rare muscular and neurological disorders.

To learn more about the Young Investigator Draft and to purchase tickets click here

Researcher: Dr. David C. Fajgenbaum

Category: Rare autoimmune and immunological disorders

Education: BS in human sciences from Georgetown University, MS in public health from Oxford University, MD from University of Pennsylvania Perelman School of Medicine and MBA in health care management from University of Pennsylvania.

Research: Dr. Fajgenbaum leads the Castleman Research Program at Penn as primary investigator of 18 translational research studies, including an international natural history study and the first-ever NIH R01 grant. His published research has changed the way idiopathic multicentric Castleman disease is researched and treated. He is also a patient himself, who is in his longest remission ever thanks to a precision treatment that he identified, which had never been used before for Castleman disease.

In Their Words: “I think at the end of the day, if you boil me down, I am somebody who gets something done. I spend a lot of time thinking about what I’m going to do, but I don’t spend a lot of time talking about what I’m going to do. I’m a doer and I want to get things done. There are people counting on me, patients need answers from me and I need to provide them. I need to stay on the horse and keep pushing.” – Dr. David Fajgenbaum

Video: Treating My Own Disease

During his third year of medical school in 2010, Fajgenbaum, who was studying to become an oncologist, became extremely ill battling his rare disorder, spent five months in the hospital and reached the point of having his last rites read.

If that wasn’t enough to inspire and motivate the brilliant doctor, four more near-fatal relapses gave Fajgenbaum all the motivation required to carve out his own unique Castleman disease research path.

Fajgenbaum, who along with his wife Caitlin are expecting their first child later this month, co-founded the Castleman Disease Collaborative Network in 2012, through which he has spearheaded the “Collaborative Network Approach” to research. His particular sub-type of Castleman disease, idiopathic multicentric, involves the immune system attacking and shutting down the body’s vital organs. It affects people of all ages and the sub-type iMCD has only a 50 percent five-year survival rate.

“What keeps me working hard is the realization that, after many years in and out of the hospital and nearly dying, if I want something to happen, and I want solutions and cures for Castleman disease, I can’t wait and hope somebody else finds the answers,” Fajgenbaum said. “If I want something done, I need to do it myself. That’s what keeping me pushing hard and going forward. If I don’t jump into action that hope for solutions and cures will not turn into reality.”

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Fordham Chapter announces 2018 Lift For Life event will take place on July 31


FORDHAM L4L 18 GRAPHICThe Fordham Football Chapter of Uplifting Athletes, under the leadership of Deondre Carter, Matt Dengler, Jack Gildea, and Jonah Issac, will hold its annual Lift For Life to support the Rare Disease Community on Tuesday, July 31st.

Lift For Life is the signature fundraising event for the Fordham Chapter of Uplifting Athletes. Fordham football is one of 22 chapters in Uplifting Athletes nationwide network of chapters led by college football student-athletes.

Each chapter embraces the mission of Uplifting Athletes using college football as a platform to inspire the Rare Disease Community with hope through the power of sport.

The 2018 Fordham Chapter Lift For Life features a 225-pound max rep bench press competition between the offense and defense going head-to-head.

Fans and supporters can make a pledge for the average number of bench press repetitions one side of the ball averages during the event. So find your favorite 2018 Rams player on offense or defense and support his team by visiting the Fordham Football Lift For Life site. You can also make a general donation to the Fordham Chapter in support of Lift For Life.

The proceeds from the 2018 Lift For Life support the mission of Uplifting Athletes and its charitable programs: Rare Disease Awareness, Rare Disease Research, Uplifting Experiences and Uplifting Leaders.

Today, the challenges faced by the Rare Disease Community are bigger than any one individual, team or organization can tackle alone. The Fordham Chapter, along with a nationwide network of teams, is uniquely positioned to educate and engage the local community to shine a spotlight on rare diseases.

Fordham started tackling rare diseases in 2011 because of a personal relationship the team had with a young fan that inspired them to take action. The Fordham chapter continues to leverage their platform today in order to make a positive impact in the lives of those affected by rare diseases.

Please support the Fordham Chapter and help the Rams reach their impressive $3,000 team Lift For Life goal.

Jordan Culbreath, former Princeton RB and Rare Disease Champion, to serve as Keynote Speaker for Young Investigator Draft presented by CSL Behring


 

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Uplifting Athletes is set to tie the theme of the NFL Draft and Rare Disease Research together on August 18 in Philadelphia.

The inaugural Young Investigator Draft presented by CSL Behring will take place at Lincoln Financial Field, home of the Super Bowl champion Philadelphia Eagles.

Former Princeton running back and 2011 Uplifting Athletes Rare Disease Champion winner Jordan Culbreath will serve as the Keynote Speaker.

Culbreath was living out his dream at Princeton in 2009. The native of Falls Church, Virginia was getting the Ivy League education he desired and the walk-on was having a real impact on the football field for the Tigers as a standout running back.

Prior to the 2009 season, Culbreath was experiencing severe headaches and fatigue. He chalked it up to football and the added pressure of being named a team captain so he kept his symptoms to himself. Luckily, he sprained his ankle in the second game that season against Lehigh and told the team doctors the other symptoms he was dealing with.

The medical staff immediately had his blood tested and it revealed Culbreath was battling the rare blood disorder aplastic anemia. Had he not sprained his ankle the second game of the year it could have been much worse. Culbreath’s blood count numbers were dangerously low and potentially fatal.

“I’m very lucky. I know that. Had I not sprained my ankle who knows what would have happened to me,” said Culbreath, who works on Wall Street in New York City for Merrill Lynch. “I don’t take anything for granted. Uplifting Athletes and the work they do is important to me and I’m honored to be asked to share my story at the Young Investigator Draft.”

Culbreath immediately started treatment and missed the remainder of the 2009 season. At first, his priority was to get healthy, nothing else. Once he was healthy enough to think about playing football again, Culbreath focused on a return to the field and was cleared to return after six months.

He came back in 2010 and played his final season for the Tigers, scoring the winning touchdown in overtime against Lafayette in only his second game back. His courage and ability to overcome served as an inspiration for not only his teammates but also the entire Rare Disease Community.

The Young Investigator Draft presented by CSL Behring is the result of Uplifting Athletes’ ongoing commitment to cultivate resources that accelerate scientific advancements for rare disease treatments and potential cures while facilitating the next generation of rare disease researchers.

CSL Behring is a global biotechnology leader focused on serving patients’ needs. Their scientists use the latest technologies to develop and deliver innovative therapies that are used to treat rare and serious conditions, including immunodeficiency and autoimmune diseases, hereditary and acquired bleeding disorders, chronic inflammatory demyelinating polyneuropathy, hereditary angioedema and Alpha-1 antitrypsin deficiency, as well as transplantation and critical care.

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Syracuse Chapter President and offensive lineman Sam Heckel overcomes rare blood disorder to shine for Orange football


SAM HECKELSyracuse redshirt sophomore offensive lineman Sam Heckel shared his rare blood disorder story with the world to inspire others with hope. The 6-4, 280-pound Heckel, a native of Wisconsin, is the Syracuse Football Uplifting Athletes Chapter President. The rare disease cause is personal to Sam and he chose to use his platform to shine a spotlight on the Rare Disease Community. This story is being re-posted courtesy of Cuse.com with permission. 

SYRACUSE, N.Y. – The process lasts anywhere from 14 to 20 hours.

That’s how long it takes redshirt sophomore offensive lineman Sam Heckel to pump 1,800 units of plasma – the liquid component of blood – into his body.

Heckel doesn’t need the plasma. Just the ADAMTS13 enzyme it contains.

Diagnosed with congenital thrombotic thrombocytopenic purpura (TTP), a rare blood disorder, when he was a toddler, Heckel will likely undergo plasmatherapy to receive the enzyme for the rest of his life.

It’s the primary reason Heckel felt compelled to become president of the Syracuse chapter of Uplifting Athletes. He understands the organization’s mission to raise awareness and research dollars for the treatment of rare diseases better than anybody. Because he lives with one.

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The symptoms started when Heckel was an infant. He was frequently sick and wasn’t getting better. He was in and out of hospitals, but doctors couldn’t identify what was wrong.

Then in 1999, when Heckel was two years-old, he was playing in a kiddie pool at a family party. When his father, Steve, lifted him out of the water and put him down there was a dark, hand-shaped bruise on Sam’s body from where his father had picked him up. Knowing immediately that something wasn’t right, the family again sought medical attention.

Shortly thereafter it was discovered Heckel had congenital TTP, which is caused by a lack of ADAMTS13 in the blood. Without the ADAMTS13 enzyme to breakdown large proteins, clots can form in the body’s small blood vessels. Signs of the disorder include not enough red blood cells to carry oxygen and not enough platelets to efficiently pump blood through the body. If not treated, congenital TTP can lead to organ failure and problems in the nervous system such as headaches, confusion and seizures.

The congenital form of TTP is extremely rare. In 2015, there were only approximately 100 reported cases of congenital TTP worldwide and the chances of being afflicted with it were less than one in 1 million. There was a time when Heckel’s case was believed to be the last reported incidence of congenital TTP in the United States.

Without treatment, the mortality rate for congenital TTP is greater than 90 percent, but with the introduction of therapeutic plasma infusion that number has dropped to about 15 percent. Plasmatherapy also prevents long-term organ complications due to chronic relapses.

But in 1999, so little was known about the disease that there were no reliable treatment options. Heckel suffered for years with what his mother and father termed “episodes.” He was frequently ill and missed school. He was constantly fatigued, pale and had difficulty urinating.

When Heckel was in second grade things got so bad he was admitted to the ICU at the Children’s Hospital of Wisconsin near the family’s home in Waukesha. Heckel’s platelet count had dropped to approximately 6,000. It should have been 200,000. His kidneys began to fail.

“I didn’t understand it at the time, but my doctors didn’t think I was going to make it,” Heckel said.

Heckel was hospitalized for two and a half weeks. He eventually recovered, but unsure of what would come next or how much time their son had left, the Heckels contacted the Make-A-Wish Foundation.

Started in 1980, the Make-A-Wish Foundation arranges experiences – known as wishes – for children with life-threatening diseases. Often times it’s a child’s last opportunity to experience joy without the constant presence of doctors or painful medical procedures.

For Sam, the choice came down to turning the family’s basement into a Dave and Buster’s-like game room or a trip to Hawaii. The Heckels decided they would visit Hawaii, and in 2007, when Sam was 10 years-old, his wish was granted. Sam and his family spent two weeks swimming with dolphins, hiking Diamond Head, attending luaus, surfing and relaxing on Waikiki Beach.

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About six months after their Hawaiian vacation, the Heckels received good news. Plasmatherapy had progressed to the point where Sam’s doctors thought it could be an effective form of treatment. He started going every three weeks for infusions.

During the treatments, Heckel sat and did homework, read books and watched TV. When it was over he rested until he was well enough to resume his normal activities.

While Heckel felt run down and he was more susceptible to infection than most children his age, his relapses decreased. He was allowed to continue playing sports, including his three favorites – baseball, football and basketball.

As Heckel grew older and entered high school, his ability on the gridiron became more and more evident. He started attracting attention from college coaches and developed into one of the top linemen in the state. As a senior, Heckel earned Associated Press All-State First Team honors and was ranked the No. 2 guard in Wisconsin by Scout.com. In addition, he helped his high school – Waukesha West – to consecutive WIAA Division 2 state championship game appearances.

During the recruiting process, Heckel was very up front about his disease and the constant treatments it requires – even during the football season.

“There were some schools that didn’t want to bring in an athlete with my condition,” Heckel said. “But mostly it was about finding the right fit of football and a place where I could get treatments.”

Head coach Dino Babers and the Orange staff made it clear they would welcome Heckel and work with him to ensure he received the care he needed. That assurance, Syracuse’s status as a Power-Five football program in the ACC, and the University’s academic reputation appealed to Heckel and his family. Syracuse also had something else going for it – Golisano Children’s Hospital is right across the street from campus.

One of Heckel’s childhood doctors in Wisconsin had a connection to a member of the Golisano staff and made arrangements for Heckel to receive his treatments there. That sealed the deal.

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The Mondays after plasmatherapy are difficult for Heckel. The process starts at 8 a.m. every third Sunday with the insertion of an IV. It ends late Sunday night or early Monday morning depending on his platelet count and how many units of plasma he needs. The injections are slow and Heckel often feels weak afterward. He has a pump that allows him to control the flow of plasma into his body. He injects a little bit at a time to minimize the risk of an allergic reaction.

During the treatments, Heckel’s in frequent communication with the strength & conditioning staff and his coaches about how he’s feeling. If necessary, they make arrangements to adjust his workout schedule and meeting times, so he can recuperate. Heckel is also closely monitored by team physician Dr. James Tucker and the athletic training staff for signs of distress related to the disease. Once the season starts, Heckel’s blood is drawn weekly to ensure his platelet count stays within the normal range.

So far, the disease and treatment schedule haven’t affected Heckel’s performance. After redshirting his first season, Heckel started all 12 games at left guard in 2017. He led the Orange with 41 knockdown blocks and played a total of 1,032 snaps for a Syracuse offense that ranked third in the ACC in total offense and second in passing.

Off the field, Heckel developed a strong bond with former Syracuse quarterback and Uplifting Athletes president Zack Mahoney. After hearing his story, Mahoney took Heckel under his wing and made him vice president of the Syracuse chapter for the 2017-18 academic year. Heckel observed first-hand how Mahoney organized the group’s signature event – the “Lift for Life.”

“Zack did so much behind the scenes. He was such a great leader in terms of football and Uplifting Athletes,” Heckel said. “He’s just such a great guy. You won’t find another Mahoney.”

Now Heckel holds the chief leadership role and is looking forward to executing his first “Lift for Life” as president this Friday.

“This year has been a little bit slow because this is my first year and I’m still learning,” Heckel said. “But I believe we can do more. We have to do more. That second-grade episode was supposed to be it. My wish was granted. I owe it to others, now.”

There is no cure for congenital TTP and likely never will be, but Heckel hopes more efficient methods of transferring ADAMTS13 are coming.

“There aren’t enough people with this disease to justify spending the amount of money it would take to find a cure,” Heckel said. “But they are exploring ways to concentrate the enzyme, extract it from plasma, and deliver it.”

Balancing the rigors of being a Division I athlete, a full academic course load, and his treatments has been difficult for Heckel. So has been opening up about his disease, something he’s never done before.

“My teammates know I go in for treatments. I’m not sure they understand fully what it involves, but it’s not about me,” Heckel said. “It’s about creating awareness for this disease and if my story helps do that then this has all been worth it.”

 

Baylor Chapter back to tackling rare diseases, announces Lift For Life event on July 25th


BAYLOR L4L 18 GRAPHICThe Baylor Chapter of Uplifting Athletes will hold its annual Lift For Life to support the Rare Disease Community on Wednesday, July 25th.

Lift For Life is the signature fundraising event for the Baylor Chapter of Uplifting Athletes. Baylor football is one of 22 chapters in Uplifting Athletes nationwide network of chapters led by college football student-athletes.

Each chapter embraces the mission of Uplifting Athletes using college football as a platform to inspire the Rare Disease Community with hope through the power of sport.

Uplifting Athletes is proud to have the Baylor Chapter back to helping Tackle Rare Diseases.

The 2018 Baylor Chapter Lift For Life features a 225-pound max rep bench press competition between the 11 football student-athlete led fundraising teams.

Fans and supporters can make a pledge for the total number of bench press repetitions a particular position group records during the event. So find your favorite 2018 Bears player and support his team by visiting the Baylor Chapter Lift For Life fundraising site. You can also make a general donation to the Baylor Chapter in support of Lift For Life.

The proceeds from the 2018 Lift For Life support the mission of Uplifting Athletes and its charitable programs: Rare Disease Awareness, Rare Disease Research, Uplifting Experiences and Uplifting Leaders.

Today, the challenges faced by the Rare Disease Community are bigger than any one individual, team or organization can tackle alone. The Baylor Chapter, along with a nationwide network of teams, is uniquely positioned to educate and engage the local community to shine a spotlight on rare diseases.

The Baylor Chapter started tackling rare diseases in 2014 when it joined Uplifting Athletes. The student-athlete led Baylor Chapter serves the rare disease community in honor of Jacoby Burks, a young man in Waco who battles Cerebral palsy.

Former Baylor wide receiver Levi Norwood had a relationship with Burks that went back to high school and committed to use his platform as a college football player to share their story on another level. The rest of his Baylor teammates joined in supporting Norwood and adopted Burks and his family as part of the Bears program.

Please support the Baylor Chapter and help the Bears reach their impressive $5,000 team Lift For Life goal.

 

Aplastic anemia, Princeton football program and former Tigers RB Jordan Culbreath have a long-time history


RARE DISEASE SPOTLIGHT GRAPHICThere are more than 7,000 rare diseases but we are one Rare Disease Community. Regularly, Uplifting Athletes will put one rare disease center stage to give that disease and its community a chance to shine.

 Rare Disease: Aplastic Anemia

Brief Description: Aplastic anemia is a rare, serious blood disorder, due to the failure of the bone marrow to produce enough new blood cells. Although bone marrow failure can occur secondary to other disorders, most aplastic anemia is due to the immune system mistakenly targeting bone marrow (autoimmunity). Aplastic anemia generally leaves you feeling fatigued and with a higher risk of infections and uncontrolled bleeding. Specific symptoms vary from case to case, though. Some individuals may have mild symptoms that remain stable for many years; others may have serious symptoms that can progress to life-threatening complications. Aplastic anemia may occur suddenly, or it can occur slowly and get worse over a long period of time. Treatment for aplastic anemia may include medications, blood transfusions or a stem cell transplant, also known as a bone marrow transplant.

Rare Connection: Former Princeton running back Jordan Culbreath was living out his dream at Princeton in 2009. The native of Falls Church, Virginia was getting the Ivy League education he desired and the walk-on was having a real impact on the football field for the Tigers as a standout running back. But prior to the season, Culbreath was experiencing severe headaches and fatigue. He chalked it up to football and the added pressure of being named a team captain. He kept his symptoms to himself. Luckily, he sprained his ankle in the second game that season against Lehigh and told the team doctors the other symptoms he was dealing with. The medical staff immediately had his blood tested and it revealed Culbreath was battling the rare blood disorder aplastic anemia. Had he not sprained his ankle the second game of the year it could have been much worse. Culbreath’s blood count numbers were dangerously low and potentially fatal. He immediately started treatment and missed the entire 2009 season. After six months, he was medically cleared to play football again. At first, his priority was to get healthy. Once he was healthy enough to think about playing football again, Culbreath focused on a return to the field. He came back in 2010 and played his final season for the Tigers, scoring the winning touchdown in overtime against Lafayette in only his second game back. His courage and ability to overcome served as an inspiration for not only his teammates, but the entire Rare Disease Community. And in 2011 Culbreath won the Uplifting Athletes Rare Disease Champion Award. Culbreath graduated from Princeton with a Mechanical Engineering degree, and since 2011 has worked for the investment banking firm Merrill Lynch in New York City. Culbreath still receives treatment for his rare blood disorder, and knows he was fortunate that a sprained ankle probably saved his life. The 2011 Rare Disease Champion will continue to inspire others with hope by serving as the Keynote Speaker for the inaugural Uplifting Athletes Young Investigator Draft next month at Lincoln Financial Field in Philadelphia.

Patient Groups: Aplastic Anemia & MDS International Foundation, Julia’s Wings Foundation.

Getting Social: Twitter: @aamdslf. Facebook: Aplastic Anemia & MDS International Foundation.

Learn More: There is no cure for aplastic anemia. There are currently more than 200 clinical trials involving aplastic anemia. To learn more about clinical trials go here. Some of the most well respected resources inside the rare disease community include National Institute of Health (NIH), National Organization for Rare Disorders (NORD) and Global Genes.

 

Notre Dame Chapter announces second annual Lift For Life event on Friday, July 20


NOTRE DAME L4L 18 GRAPHICThe Notre Dame Chapter of Uplifting Athletes will hold its second annual Lift For Life to support the Rare Disease Community on Friday, July 20th.

Lift For Life is the signature fundraising event for the Notre Dame Chapter of Uplifting Athletes. Notre Dame Football is one of 22 chapters in Uplifting Athletes nationwide network of chapters led by college football student-athletes.

Each chapter embraces the mission of Uplifting Athletes using college football as a platform to inspire the Rare Disease Community with hope through the power of sport.

“It is an honor to be able to use our platform to help raise awareness and support Uplifting Athletes and the Rare Disease Community,” Notre Dame Chapter President Jimmy Thompson said. “We are all proud to be part of a team that is working so hard to tackle rare diseases.”

The 2018 Notre Dame Chapter Lift For Life will be a competition between eight fundraising teams comprised of Fighting Irish players and led by a team captain.

So find your favorite 2018 Fighting Irish player and make a donation to his team by visiting the Notre Dame Chapter Lift For Life fundraising site.

The proceeds from our 2018 Lift For Life support the mission of Uplifting Athletes and its charitable programs: Rare Disease Awareness, Rare Disease Research, Uplifting Experiences and Uplifting Leaders.

Today, the challenges faced by the rare disease community are bigger than any one individual, team or organization can tackle alone. The Notre Dame Chapter, along with a nationwide network of teams, is uniquely positioned to educate and engage the local community to shine a spotlight on rare diseases.

The Notre Dame Chapter started tackling rare diseases in 2012 when it joined Uplifting Athletes. The student-athlete led Notre Dame Chapter was started by former Fighting Irish linebacker Joe Schmidt and serves the Rare Disease Community in honor of rare disease patient Sam Grewe.

Diagnosed with the rare disease osteosarcoma in 2011 as a teenager, Grewe is a huge Fighting Irish fan and the Notre Dame football program formed a close relationship with Grewe as he battled his rare disease.

Please support the Notre Dame Chapter and help the Fighting Irish reach their impressive $18,000 team Lift For Life goal.