Here I am explaining what Wolfram syndrome is and how I handle living with the disease everyday.
The American Diabetes Association (ADA) held its annual convention in San Francisco this year at the Moscone Center. Having never been to California, I was thrilled when asked to attend and help work the booth for the Jack & J.T. Snow Foundation. I was told that the purpose of the booth was to increase awareness and funding for Wolfram research; I had no idea the Snow Foundation and I were going to be so successful. Read more
00Adam Zwanhttp://thesnowfoundation.org/wp-content/uploads/2019/06/snow-foundation_logo.svgAdam Zwan2014-06-30 16:28:322024-10-20 15:40:35My First ADA Convention, San Francisco – Adam Zwan
Washington University in St. Louis Magazine
BY Diane Duke Williams
Last year, Stephanie Snow Gebel found out that her youngest daughter, 5-year-old Raquel, has an extremely rare genetic disorder that may one day rob her of her sight, her hearing and many years of her life.
“As a mother, my heart aches,” Gebel says. “It’s hard to breathe sometimes when I ?think of watching my child deteriorate ?before my eyes.”
Facing Raquel’s illness has been especially hard on Gebel because she lost her parents in recent years. Her mother, Merry Snow, died in 1998 at the age of 54. Her father, Jack Snow, fondly remembered by St. Louis fans as a star wide receiver for the Los Angeles Rams and later as a Rams’ broadcaster, died in 2006. He was 62 years old. Snow died just nine months after his granddaughter Raquel was born.
Raquel, who is known for her sweet disposition, recently discovered soccer and basketball. She also enjoys playing with Barbie dolls.
She knows she has Wolfram syndrome and understands that the disease causes her to mix up the colors pink and purple. “We’ve told her to let us know if her eyesight gets worse or if she can’t hear the birds chirping in our backyard,” says Gebel, who also has three other children ranging in age from 3 to 11.
The first sign of Wolfram syndrome is typically juvenile onset diabetes. In addition to causing hearing and vision loss, the disease ultimately affects the brain. Most patients are diagnosed when they are 4 or 5 years old; in a span of five to eight years, degeneration of their hearing, vision and brain begins. Sixty percent of patients affected by Wolfram syndrome die before reaching their 30th birthdays.
Rare Disease Day is an annual, awareness-raising event co-ordinated by EURORDIS at the international level and by National Alliances and Patient Organisations at the national level.
The main objective of Rare Disease Day is to raise awareness amongst the general public and decision-makers about rare diseases and their impact on patients’ lives.
The campaign targets primarily the general public but it is also designed for patients and patient representatives, as well as politicians, public authorities, policy-makers, industry representatives, researchers, health professionals and anyone who has a genuine interest in rare diseases.
Since Rare Disease Day was first launched by EURORDIS and its Council of National Alliances in 2008, more than 1000 events have taken place throughout the world reaching hundreds of thousands of people and resulting in a great deal of media coverage.
The political momentum resulting from the Day has also served for advocacy purposes. It has notably contributed to the advancement of national plans and policies for rare diseases in a number of countries.
Even though the campaign started as a European event, it has progressively become a world event, with over 70 countries participating in 2013. We hope many more will join in 2014. Our objective is for the WHO to recognise the last day of February as the official Rare Disease Day and to raise increasing awareness for Rare Diseases worldwide.
For the past few years, we have been filming a feature length documentary about Wolfram syndrome, and the brilliant team of doctors and scientists racing the clock for a cure. Featured are the stories of four patient families, including Raquel Gebel and her family’s efforts to save her life and the lives of others through the creation of The Jack and J.T. Snow Scientific Research Foundation. The inspiring story of a mother’s love and the lengths she will go for her child, and the resulting effect on humanity as a whole, is told poignantly through the efforts of Stephanie Snow Gebel, Raquel’s mother. Filming is now complete, and we are entering the lengthy and expensive post production phase. We are currently raising funds to complete and distribute this important film in the manner that the story deserves. The documentary will reach audiences worldwide, spreading awareness and raising donations for Wolfram syndrome research. With the funding that we need, the film will be complete by summer 2014. For more information or to get on the film’s newsletter list, please email WolframMovie@gmail.com. Thank you for your support.
LEFT TO RIGHT, TOP ROW: Barclay and Merry Gebel, Stephanie Snow Gebel LEFT TO RIGHT, BOTTOM ROW: Jack, Raquel, and Lauren Gebel
Babler student benefits from Girls on the Run
A fundraiser benefiting The Jack and J.T. Snow Scientific Research Foundation was held on Nov. 4 as a service project of the Babler Elementary School Girls on the Run team. Over 200 individuals participated in the 1-mile walk/run along the Wildwood Trails, which concluded with a health fair and carnival at Babler Elementary School. The cost for participation in the event was $15 per person which included a race T-shirt and silicone bracelet with the “STOP WOLFRAM SYNDROME” message.
A Scientific Mind, a Tender Heart The Life of M. Alan Permutt, MD
Once asked why he had so many books documenting the trials and tribulations of people attempting to reach the peaks of some of the world’s tallest mountains, Dr. M. Alan Permutt replied that he enjoyed reading true stories about people overcoming great adversity.
J.T. Snow, Raquel Gebel and Dr. Permutt at the 2011 Casino Night.
Dr. Permutt speaking to the crowd at the 2011 Casino Night fundraiser benefiting the Snowman Fund.
While he never scaled a mountain himself, Dr. Permutt knew a thing or two about adversity. Diagnosed with juvenile diabetes as a teen, Permutt spent a lifetime managing a disease while becoming one of the nation’s leading diabetes researchers. Dr. Permutt, a Professor of Medicine and of Cell Biology and Physiology, and the former director of the Diabetes Research and Training Center, at Washington University School of Medicine, died on Sunday, June 10 at the age of 72 after a lengthy battle with cancer.
Dr. Permutt, born and raised in Birmingham, Alabama, was known for his enveloping warmth, outgoing personality, a laser-like scientific mind and dedication to his research. He was as comfortable discussing the minutia of cell biology as he was explaining his preferred method for grilling barbecue ribs. He enjoyed taking in the St. Louis Symphony as much as watching a football game over a corned beef sandwich at Lester’s Sports Bar. His love for his children and grandchildren knew no bounds.
Dr Alan Permutt MD JT Snow Stephany Snow -Gable
He was a respected teacher and mentor to medical residents and lab partners. Many colleagues without family in St. Louis were welcomed into his home to celebrate holidays and enjoy his popular dinner parties.
“I admired his continued passion for research, his tenacity to overcome adversities, imagination, drive, and innovation. I learned to be a scientist with Alan,” said Dr. Ernesto Bernal-Mizrachi, a former colleague in Dr. Permutt’s lab. “As a friend, he was truly precious and generous with my family and me. He was remarkably insightful, attentive, and invariably reflective and thoughtful.”
Dr. Permutt was an avid cyclist and work-out devotee – aerobics and Spinning classes were his favorites – who rarely missed a day of exercise prior to his illness. In 2009 he received the Active Living Award from Trailnet for his “indomitable spirit” and passionate promotion of physical activity as a primary treatment for diabetes.
“His force of will and implacable determination refused to allow diabetes to limit his aspirations, in work or play,” said friend and fellow cyclist David Howard. “Despite myriad responsibilities, he maintained a daunting regimen of exercise, honing his fitness on the bicycle to a remarkably high level.”
Dr. Permutt was an investigator or author for more than 200 publications on the genetic and physiological bases of diabetes, according to the medical database PubMed. He was a Howard Hughes Medical Investigator, and twice received the MERIT Status Award from the National Institute of Health, as well as several other distinguished awards relating to diabetes research. Last February, he received the prestigious Daniel P. Schuster Award for Distinguished Work in Clinical and Translational Science from the Washington University School of Medicine, among the highest honors the School of Medicine bestows on faculty.
One particularly significant contribution to medical science as the result of Dr. Permutt’s research team was the discovery of the Wolfram Syndrome gene in 1998. A rare genetic disorder that typically starts as Type 1 diabetes, the disease later deteriorates nerve cells in the eyes, ears and brain, usually resulting in death by age 30.
Years of lab work on Wolfram culminated in perhaps Dr. Permutt’s proudest professional achievement: two years into his cancer diagnosis, he was still able to bring together Wolfram Syndrome patients and their families for the first-ever multidisciplinary testing and assessment clinic in August 2010 in St. Louis.
The inaugural, and subsequent, groups of patients provided researchers with a significant amount of data to better understand the disease in the hopes of one day creating a treatment therapy. Because the disorder is so rare, it was the first time that Dr. Permutt and his researchers had actually met Wolfram patients. “For years,” Dr. Permutt said at the time, “I’ve been getting letters and e-mails from patients asking for help, and I’ve never been able to. It was very rewarding to finally be in a position to help.”
Dr. Permutt was preceded in death by his son, Alex; his mother Marguerite and father James Permutt, his stepmother Alva Shevin Permutt and his brother Stuart Shevin. Survivors include his daughters Joelle Permutt (Christopher Mumford) and Robin Winer (Todd), dear friend Rhea Oelbaum, grandchildren Abe, Eli, Benny and Alexi, sisters Patti (Jules) Wainger and Jan Shevin, and brother Maury Shevin.
In lieu of flowers, donations can be made in Dr. Permutt’s memory to a Wolfram Syndrome research foundation, the Jack and J.T. Snow Scientific Research Foundation, 17703 Gardenview Place Court, Glencoe, MO, 63038, or via www.thesnowfoundation.org
***When making a donation on PayPay, if you would like to add a message to the family, go to the section marked “Add special instructions to the seller”. This is where you can leave a note for the family. Thank you!
On March 7, 2014, the Snow Foundation was on the cover of the Ladue News as well as highlighted as one of the Non-Profit organizations being featured on their society page. They did a beautiful job capturing our story. Below is an excerpt from the article.
By Brittany Nay
Photo by Sarah Crowder
It’s a grim prognosis. Wolfram syndrome, a rare genetic disorder that strikes the young, presents as severe juvenile diabetes, and gradually causes loss of sight and hearing, often leading to death before the patient’s 30th birthday. Today, there is no cure.
But the Snow family and doctors at Washington University School of Medicine hope to change that—very soon. Eight-year-old Raquel, Stephanie Snow Gebel’s daughter and the granddaughter of the late Jack Snow—‘Voice of the Rams’—was diagnosed with the disease in 2010. As a toddler, Raquel began showing symptoms of diabetes: constant thirst and frequent urination. A year later, her vision began deteriorating and she was diagnosed with optic atrophy.
What happened next only can be explained as “the stars aligning,” Gebel says. By a stroke of luck, Raquel’s physicians—Drs. Lawrence Tychsen and Neil White at St. Louis Children’s Hospital—were both on the board of the Wolfram syndrome research program at Washington University School of Medicine. Through their collaboration, they determined Raquel had the rare disease that leads to the death of brain and pancreatic cells, causing severe diabetes and progressive vision and hearing loss, as well as problems with balance and coordination—and even breathing.
Led by the late Dr. Alan Permutt, a team of Washington University School of Medicine researchers discovered the Wolfram syndrome gene in 2000. Today, the research into the syndrome continues at the university, with the expertise of Dr. Fumihiko Urano.
Urano was so moved by the passion of Permutt and Gebel to end the disease, he changed the trajectory of his medical career on the East Coast to take over the Wolfram Syndrome research program following Permutt’s death in 2012. Since then, Urano and his research team have found the cause of the syndrome and identified four potential FDA-approved drugs for treatment, as well as a new group of drugs that may stop the brain and pancreatic cell death caused by the disease. The group is currently completing clinical testing for the drug candidates before it can move on to clinical trials.
And the drugs have even further significance beyond implications for Wolfram syndrome that could revolutionize the diabetic world, Urano notes. “Drugs that are effective for Wolfram syndrome could be effective for other forms of diabetes.” But because it is such a rare disease, more awareness and funds to find its cure are needed, he says.
St. Louis’ CBS affiliate, KMOV, is a proud supporter of The Snow Foundation. Anchorman Steve Savard has been a longtime advocate and friend to our organization and supports our fight against Wolfram syndrome and diabetes in a variety of ways. Recently they have added our organization to the list of community partners they support throughout the year. We are very grateful for our friends at KMOV.
Here is more information about their program, KMOV Cares.
KMOV is devoted to making a difference in our community by partnering with nationally recognized and smaller local non-profit charities to aid the citizens of St. Louis.
KMOV is dedicated to bringing key issues in our community to light to make a difference. It is our mission to raise awareness through special broadcasts, news stories, public service announcements, web, mobile, and social media presence. Our award-winning journalists and staff strive to lend a helping hand. Plus, Steve Templeton’s 4 Degree Guarantee has generated over $31,550 in donations to date for our partners. More importantly KMOV has raised awareness for each organization, spurring even more donations, thanks to our viewers.
Dr. Fumihiko Urano Awarded Samuel E. Schecter Professorship in Medicine
Raquel Gebel and Dr. Fumihiko Urano at the Installation Ceremony
On Monday, April 1, 2013, Dr. Fumihiko Urano of the Washington University School of Medicine (WUSM) and renowned Wolfram syndrome researcher, was awarded the Samuel E. Schecter Professorship in Medicine. The event was held at the Eric P. Newman Education Center.
Dr. Urano is joined the faculty of Washington University School of Medicine as an Associate Professor of Medicine in the Division of Endocrinology, Metabolism and Lipid Research, and Director of the Wolfram Syndrome International Registry. Dr. Urano also holds a joint faculty appointment in the Department of Pathology and Immunology.
Stephanie Snow Gebel, Raquel Gebel, and Dr. Fumihiko Urano at Installation Ceremony.
A 1941 alumnus and professor emeritus of clinical medicine at Washington University School of Medicine, Samuel E. Schecter, M.D., established the Professorship of Medicine in 2002.
Dr. Schecter served in the U.S. Air Force during World War II and completed his residency in internal medicine at The Jewish Hospital in St. Louis. Dr. Schecter retired from private practice in 1991. In 2002 he received the School of Medicine’s 2nd Century Award, and later passed away in 2004. His Professorship in Medicine is one of the highest honors one can achieve at WUSM.
<h4 style=”font-weight: bold; color: #003c76; text-align: center;”><a href=”http://localhost:8888/snow-foundation/wp-content/uploads/2014/06/temp20140608_CoachSftblGm063-nfl_mezz_1280_1024.jpg”><img class=”aligncenter size-full wp-image-4336″ src=”http://localhost:8888/snow-foundation/wp-content/uploads/2014/06/temp20140608_CoachSftblGm063-nfl_mezz_1280_1024.jpg” alt=”temp20140608_CoachSftblGm063–nfl_mezz_1280_1024″ width=”960″ height=”678″ /></a></h4>
While in the midst of competing for roster spots and preparing for the 2014 NFL season during organized team activities, the Rams took a day for a different type of competition. In a charity event that doubles as a camaraderie-building experience during the NFL offseason, 22 Rams players took part in Head Coach Jeff Fisher’s annual softball game on Sunday.
Played at GCS Ballpark in Sauget, Ill., for the third straight year, the game featured all the hijinks typical of Fisher’s yearly event, complete with a 3-0 lead before the game’s first pitch, cheerleaders as base runners, mascots as pitchers and the opposing team beginning an inning with two outs. Pitted against a team assembled by offensive coordinator Brian Schottenheimer, Fisher found his team in an unfamiliar spot, trailing often before rallying late. The game ended in a 22-22 tie after eight innings, continuing Fisher’s string of games without a loss.
“We had to get ourselves back in it,” Fisher said. “I had to give Coach Schottenheimer some applause, they did a nice job, so we walked off tied.”
Fisher continued his tradition of bringing celebrity guests with area ties for a third straight year. Among the guests this year was Grammy Award winning hip-hop artist and St. Louis native Murphy Lee, who also participated in the event’s home run derby, won by Rams LB <a class=”player-card-tooltip” style=”font-weight: bold; color: #00295b;” title=”James Laurinaitis” href=”http://www.stlouisrams.com/team/roster/james-laurinaitis/72120770-25b2-4fb2-9b56-10ca0d8067b9/” rel=”/cda-web/person-card-module.htm?mode=data&id=72120770-25b2-4fb2-9b56-10ca0d8067b9″ rev=”player”>James Laurinaitis<img src=”http://www.stlouisrams.com/assets/nflimg/icon-article-link.gif” alt=”” /></a>.
The “Coach Fisher and Friends” softball game has been a tradition for Fisher that dates back to his days as the head coach of the Tennessee Titans, and the event has supported a litany of charities since its inception. This year’s event included a player from those Tennessee days, in new Rams receiver <a class=”player-card-tooltip” style=”font-weight: bold; color: #00295b;” title=”Kenny Britt” href=”http://www.stlouisrams.com/team/roster/kenny-britt/ded52e21-7894-4369-ba1a-95c64129282d/” rel=”/cda-web/person-card-module.htm?mode=data&id=ded52e21-7894-4369-ba1a-95c64129282d” rev=”player”>Kenny Britt<img src=”http://www.stlouisrams.com/assets/nflimg/icon-article-link.gif” alt=”” /></a>, who delivered a two-run home run in the game.
The game featured more than 4,000 fans in attendance, and benefited five charities: The Wounded Warrior Project, The Backstoppers, Mercy Ministries, The Catch-A-Dream Foundation and The Jack and J.T. Snow Scientific Research Foundation. The Snow foundation, founded in part in memoriam of former Rams receiver and broadcaster Jack Snow, teams with Washington University’s medical research team to raise awareness for Wolfram syndrome, a rare form of diabetes.
While the game is certainly a benefit to the charities involved, they weren’t the only ones to gain from the event as a whole. The Rams raffled off the players’ game worn jerseys to fans in attendance and also held a silent auction featuring NFL memorabilia. Fans were also treated to a post-game fireworks show.
“It’s a big thing for the charities, but it’s also a fun evening—it’s a blast,” Fisher said. “People tell friends, and they tell friends, and they just keep coming out.”
<h4 style=”color: #003c76; text-align: center;”>Check out the 2013 St. Louis Rams video about the event <a style=”color: #003c76;” href=”http://www.stlouisrams.com/media-center/videos/Coach-Fisher–Friends-Celebrity-Softball-Game/b0ec045f-84fc-46f2-8bc3-f1b2efcfe7b8″ target=”_self”>HERE</a></h4>
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