Syracuse Chapter President Sam Heckel using his rare disease journey with TTP to inspire others


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: Thrombotic Thrombocytopenic Purpura (TTP)

Brief Description: Thrombotic thrombocytopenia purpura (TTP) is a rare and serious blood disease. The consistent symptoms may include a severe decrease in the number of blood platelets, abnormal destruction of red blood cells and disturbances in the nervous system and other organs occur as a result of small clots that form in the smallest arteries. The exact cause of TTP is unknown. It is generally believed that there is an acquired, or non-inherited, form of TTP and a familial form. The acquired form may appear later in life, in late childhood or adulthood, and affected individuals may have a single episode or recurring episodes. This is referred to as immune mediated TTP. If the disorder is present at birth, or familial form, signs and symptoms may typically appear in infancy or early childhood. This is referred to as congenital TTP. The most recent data suggests the rate of occurrence for TTP is about 3.7 cases per million people annually, and two-thirds of individuals with TTP are women. The most common occurrence is in individuals between the ages of 20 and 50 years old.

Rare Connection: Syracuse offensive lineman Sam Heckel understands the value of using his platform as a major college football student-athlete to shine a spotlight on the Rare Disease Community better than most. It’s why the redshirt sophomore, who started all 12 games for the Orange last season at left guard and is expected to be a force up front again in 2018, became the Syracuse Football Chapter of Uplifting Athletes President. Heckel has lived with the congenital version of the rare blood disease Thrombotic Thrombocytopenic Purpura (TTP) since he was a toddler. In order to manage his extremely rare congenital form of TTP, the 6-4, 280-pound native of Wisconsin undergoes plasmatherapy one a month and it generally takes 14-20 hours for Heckel to get all the ADAMTS13 enzymes his body needs from the plasma. And he will likely undergo this treatment protocol the rest of his life. Just because he plays football on Saturday for the Orange, doesn’t mean once a month he doesn’t have to make a trek to the hospital on Sunday for his treatment. The Monday after his plasmatherapy treatments are the toughest. The offseason is manageable, but during football season, winter conditioning and spring drills it takes a team effort. During his treatments when football is front and center, Heckel is in frequent communication with the Syracuse 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 nearly died from his rare disease when he was in second grade when his platelet numbers became so low he started to have organ failure. He survived after more than two weeks in the hospital, but unsure of what the future held, his parents contacted the Make-A-Wish Foundation.  When Heckel was 10 years old his wish was granted in the form of a two-week vacation for his entire family in Hawaii. What somebody else did for him stuck with Heckel. He views his story and the Uplifting Athletes Chapter at Syracuse as a way to help others and pay it forward. In his words “My wish was granted. I owe it to others, now”

READ SAM HECKEL’S ENTIRE STORY

Patient Groups: Answering T.P.P. Foundation.

Getting Social: Facebook: Answering T.P.P. Foundation

Learn More: There is no cure for congenital TTP, but the FDA approved drug SD Plasma is used to treat TTP. There are currently more than 80 clinical studies involving TTP. 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.

SAM HECKEL

 

 

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.

 

Four-time Super Bowl champion and former Penn State All-American gives difficult to diagnose rare disorder a platform


RARE DISEASE SPOTLIGHT GRAPHIC

There 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: Amyloidosis

Brief Description: Amyloidosis is a systemic rare disorder that is classified into several types. The different types of systemic amyloidosis are primary, secondary or familial (hereditary). Amyloidosis is usually a multi-system disease resulting in a wide spectrum of clinical presentations that can make diagnosis difficult because it mimics more common diseases. Amyloidosis has no cure but is treatable. It is caused by abnormal folding of proteins leading to fibril formation in one or more body organs, systems or soft tissues. Most diagnosed patients have more than one organ involved. Recent advances in therapy have rendered early and precise diagnosis critical if a patient is to fully benefit. The best estimates indicate there are approximately 4,000 new cases of amyloidosis annually in the United States, though actual annual numbers may be somewhat higher as a result of under-diagnosis. While the incidence is thought to be equal in males and females, about 60 percent of patients referred to amyloid centers are male. Primary amyloidosis has been reported in individuals as young as 20 years of age but is typically diagnosed between the ages of 50-65. Depending on the severity and type of amyloidosis, the most common treatment protocols involve medications, chemotherapy or a stem-cell transplant.

Rare Connection: Former Penn State All-American linebacker and four-time Super Bowl winner Matt Millen recently made his diagnosis with the rare disorder amyloidosis public. The 60-year-old Millen, a second-round draft pick in 1980 by the Oakland Raiders, will eventually need a heart transplant and has been going through weekly chemotherapy treatments since late last summer. For six years prior to his diagnosis Millen dealt with shortness of breath and chest pains and saw doctors regularly. His symptoms grew worse over time to the point where the it was difficult for Millen to walk more than 50 feet without getting winded. A long-time broadcaster and former NFL team executive, Millen initially brushed aside his diagnosis and was going to delay initial chemotherapy treatments. He had, after all, been living with this rare disorder for years and the 2017 football season was on the horizon. But when Millen, whose heart is operating at about 30 percent capacity, was told he could be dead before the end of football season, it drove home the reality of finally getting a diagnosis. Millen is still doing what he loves, broadcasting football games for the Big Ten Network and making fine cabinets out of the wood shop on his property in Bucks County, Pennsylvania. But as he waits to get listed for his heart transplant, Millen and his wife Pat are doing as much as they can to raise awareness for amyloidosis.

Patient Groups: Amyloidosis Foundation, Amyloidosis Support Groups, Amyloidosis Research Consortium, Genetic and Rare Diseases Information Center.

Getting Social: Twitter: @Amyloidosisfdn, @AmyloidosisSupp, @ORDR. Facebook: Amyloidosis Foundation, Amyloidosis Support Groups, Office of Rare Disease Research.

Learn More: There is no cure for amyloidosis. Chemotherapy and stem-cell treatments are the most common treatment protocols. There are currently more than 500 clinical trials for amyloidosis. 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.

 

 

 

Enduring neuroblastoma diagnosis with daughter Leah helped Devon Still find a purpose and passion for life after football


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: Neuroblastoma

Brief Description: A childhood or pediatric form of cancer that occurs in the abdomen near the adrenal glands, but it can also occur in other parts of the body. It is often present at birth but may not be detected until later in infancy or childhood. The symptoms of a neuroblastoma may include a lump in the abdomen, pain, diarrhea, or generally feeling unwell. It affects one out of 100,000 children. The exact cause of this tumor is not yet known. Treatment may involve surgery, chemotherapy, radiation therapy and stem cell transplant, and it can be cured when diagnosed at an early stage.

Rare Connection: Former Penn State All-American and Big Ten Defensive Player of the Year Devon Still was battling through his own injury issues to keep his NFL career alive when his then 4-year-old daughter, Leah, was diagnosed with the rare disease neuroblastoma. Leah’s diagnosis made playing football irrelevant to Still. At that moment, he was prepared to walk away from the game to be with his daughter full-time, but realized keeping his health insurance was best for her. With the support of the Cincinnati Bengals, Still decided to use his platform as an NFL player to shine a spotlight on pediatric cancer. Devon used social media to document Leah’s battle with neuroblastoma, quickly raised more than $1 million for research through jersey sales, and the inspiring duo was awarded the Jimmy V Award at the 2015 ESPYs. As a member of the Penn State Chapter during his Nittany Lions career, Still reached out to Uplifting Athletes Executive Director Scott Shirley shortly after Leah’s diagnosis. Scott was a source of support and together they launched a Pledge It campaign to raise funds for research. Leah has been in remission for three years, and after stops in Houston and New York, Still retired from the NFL after the 2017 season. Leah is healthy today, but Devon is far from done using his platform to help others. Since retiring, he launched the Still Strong Foundation to help families with children fighting pediatric cancers and to share his story and hopefully motivate others to fight through their challenges. In Devon’s words he wants to “have an impact that goes well beyond the football field.”

Patient Groups: Children’s Neuroblastoma Cancer Foundation, American Cancer Society.

Getting Social: Twitter: @CncfHope, @AmericanCancer. Facebook: CNCF Hope, American Cancer Society.

Learn More: There are two FDA approved treatments for neuroblastoma, Adreview and Unituxin, and more than 500 clinical trials. 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.

 

 

Mitchell Meyers came all the way back from 18-month battle with a rare disease to play his final season at Iowa State and win the 2017 Rare Disease Champion Award


RARE DISEASE SPOTLIGHT GRAPHIC

There 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: Hodgkin’s disease

Brief Description: Hodgkin’s disease is one of a group of cancers known as a lymphoma – a general term used to describe cancers that affect the lymphatic system, especially the lymph nodes. Tumors often form in the lymph nodes and/or the area around the nodes. The exact cause of Hodgkin’s disease is unknown, but some classic symptoms include fever, night sweats, and weight loss may occur along with swollen lymph nodes. Hodgkin’s disease affects the tissues and lymph nodes of the lymphatic system. The lymphatic system, which is part of the body’s immune system, consists of a complex series of thin vessels that are similar to blood vessels and run throughout the body. Treatment of Hodgkin’s disease depends on the stage of the disease. Radiotherapy and chemotherapy are the two main treatment options.

Rare Connection: Former Iowa State defensive lineman Mitchell Meyers became the ninth winner of the Rare Disease Champion award in 2017. Meyers endured a long and difficult 18-month journey with the rare disease Hodgkin’s lymphoma. An impact player in 2013 and 2014 for the Cyclones football team, Meyers lost his 2015 season when he was diagnosed in February of that year. He left school and returned home to Texas to begin his fight. He vowed to his teammates he would return for the 2016 season. During his 13 months of chemotherapy and radiation treatment, Meyers suffered a serious setback when he became one of those rare patients who had a relapse. He went through a stem cell transplant early in 2016, and playing football again became less of a reality with each passing month. But Meyers never gave up. He did what he could to keep his body in shape, despite losing more than 50 pounds, with the commitment to overcome the odds and play again. Just prior to preseason camp for the 2016 season, Meyers hard work paid off and he was cleared to practice.   But he had been away from the game for 18 months. With nothing promised to him by the coaching staff other than an opportunity to compete, Meyers went out and won a starting job at defensive end and served as an inspiration for his Cyclone teammates. He was voted as a team captain for the 2017 Iowa State team and wore the No. 58 for the Cyclones that year. Each season Iowa State hands the No. 58 jersey to a lineman who best embodies the spirit of a beloved former coach who died suddenly in 2014. Meyers not only earned a starting spot, he became a big-time contributor up front defensively for the Cyclones, playing in all 12 games, recording 30 tackles and becoming an Academic All-Big 12 selection. Currently, Meyers is working for Houston-based Crane Logistics in their year-long Leadership Development Trainee program.

Patient Groups: American Cancer Society, Cancer Support Community, Leukemia & Lymphoma Society, Lymphoma Research Foundation.

Getting Social: Twitter: @AmericanCancer, @CancerSupportHQ, @LLSusa, @lymphoma. Facebook: American Cancer Society, Cancer Support Community, The Leukemia & Lymphoma Society, Lymphoma Community.

Learn More: There is one FDA approved treatments for Hodgkin’s lymphoma, Leukine. To learn more about clinical trials go here. Currently there are more than 1,100 active clinical trials for Hodgkin’s disease. 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.

 

Extensive battle with rare bone cancer Osteosarcoma could not keep Casey O’Brien off the football field


RARE DISEASE SPOTLIGHT GRAPHIC

There 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: Osteosarcoma

Brief Description: From among the many forms of rare bone cancers, osteosarcoma is considered the most common type of bone cancer. The average age at diagnosis is 15. Boys and girls have a similar incidence of this tumor until late adolescence, at which time boys are more commonly affected. It is considered even more rare for osteosarcoma to occur in adults. Although osteosarcoma tends to occur in the larger bones, such as the shin (near the knee), thigh (near the knee) and upper arm (near the shoulder), it can occur in any bone. A number of variants of osteosarcoma exist. The cause of osteosarcoma is not known. In some cases, it runs in families, and at least one gene has been linked to increased risk. Treatment varies from person to person and may include surgery, chemotherapy, radiation therapy and samarium.

Rare Connection: There was a nagging soreness in his left knee that 2018 Uplifting Athletes Rare Disease Champion Award finalist Casey O’Brien figured he could play through. He’d figure it out after his high school freshman football season was over. He was the quarterback, and he wasn’t hurt. So he played. The pain did not go away and his father, Dan, was concerned. A series of x-rays and tests didn’t reveal anything, so O’Brien charged forward and went into high school hockey tryouts. Only problem was he could no longer skate because of the lingering pain in his knee. Another round of tests, including an MRI, revealed the deeper problem. O’Brien, who remembers that Friday vividly, was diagnosed with osteosarcoma. By Monday he had the first of what would be become 10 surgeries and more than 150 days in the hospital over an 18-month span. All those days in the hospital gave the resilient O’Brien plenty of time to think. A three-sport athlete growing up, sports was all O’Brien knew. He loved football the most, and wanted to get back on the field, but his options were limited. One night, while lying in a hospital bed receiving another round of treatment, O’Brien and his father hatched up a plan. While enduring ongoing chemotherapy treatment, O’Brien played for Cretin-Derham Hall High School as a holder despite being only 115 pounds and bald. His playing schedule was two weeks on and week off to mirror his treatment schedule. A late-night plan hatched in a hospital bed played out for two seasons at Cretin-Derham Hall High School and continues today… Just last year, Casey O’Brien earned a spot on the University of Minnesota Gophers football squad as a walk-on holder.

Patient Groups: Sarcoma Alliance, Sarcoma Foundation of America, The Liddy Shriver Sarcoma Initiative.

Getting Social: Twitter: @SarcomaAlliance, @CureSarcoma Facebook: Sarcoma Alliance, Sarcoma Foundation of America

Learn More: There are three FDA approved treatments for osteosarcoma, Fusilev, Leucovorin calcium and Methotrexate. 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.

Believing the impossible was possible fueled Shaquem Griffin to cusp of making NFL 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: Amniotic Band Syndrome

Brief Description: Amniotic band syndrome is a condition potentially associated with a variety of different birth defects. It is important to note that no two cases of amniotic band syndrome are exactly alike and that the associated symptoms are highly variable. The severity of amniotic band syndrome can range from a single, isolated finding to multiple, disfiguring complications. The arms and legs are most often affected. The head and face and, in some cases, various internal organs can also be affected. Amniotic band syndrome is estimated to occur in anywhere from 1 in 1,200 to 15,000 live births. No gender or ethnic predispositions have been identified with amniotic band syndrome. The symptoms vary greatly from one infant to another. Some infants develop only mild complications; others develop severe and even life-threatening complications. Most infants with amniotic band syndrome have some form of deformity of the arms and legs or fingers and toes. One or more limbs may be affected. Upper limbs are affected more often than lower limbs. In some cases, one limb or one hand or foot may be the only symptom of the disorder.

Rare Connection: University of Central Florida (UCF) linebacker Shaquem Griffin recently won the 2018 Uplifting Athletes Rare Disease Champion award. A Florida native, Griffin was born with amniotic band syndrome. As a youngster, Griffin tried to “play through” the pain. But, the pain became unbearable and the decision was made to remove his left hand when he was four years old. In every phase of life, Griffin refused to let his rare disorder slow him down or hold him back — especially on the football field as a UCF Knight. The star linebacker was named the 2016 American Athletic Conference Defensive Player of the Year in his first full season as starter. This season, he was a big-time impact player for the UCF defense and he helped guide the Knights to a conference championship and, most impressively, a perfect 13-0 season with a victory over Auburn in a coveted New Year’s Six bowl. Griffin’s dream of joining his twin brother, Shaquill, in the NFL is close to becoming a reality. Shaquem had an outstanding week at the Senior Bowl and within the last week received an invitation to the 2018 NFL Combine.

WATCH: The Pain Shaquem Griffin Can Never Forget, College GameDay ESPN

Patient Groups: Birth Defect Research For Children, Fetal Hope Foundation, The Fetal Medicine Foundation, Genetic and Rare Disease Information Center.

Getting Social: Twitter: @ORDR, @BirthDefectRch, @FetalHealthFndn Facebook: ORDR, BDRCFL, FetalHealth.

Learn More: The treatment of infants and children with amniotic band syndrome is symptomatic and supportive. For more information, go here. Some of the most well respected resources inside the rare disease community include National Institute of Health (NIH) and National Organization for Rare Diseases (NORD). A strong patient community to help makes a difference exists through Global Genes.

 

GRIFFIN RDC WINNER GRAPHIC 18