Strong of Heart, Profiles of Notre Dame Athletes
(written by Randy Covitz)
Jack Snow’s daughter Stephanie pleaded and finally persuaded him to be in the birthing room when she was about to deliver her daughter Raquel.
Tears filled Snow’s eyes when he held Raquel, his seventh grandchild, with the steady hands that caught 60 passes as an All-America wide receiver at Notre Dame in 1964 and 340 more passes and 45 touchdowns in an 11-year National Football League career with the Los Angeles Rams.
Snow would never live to see Raquel grow up, nor would he know that she would be diagnosed at age 4 with a rare disease known as Wolfram syndrome. He died on Jan. 9, 2006, of a staph infection at age 62. It was nine months and a day after Raquel was born.
But the legacy and memory of Jack Snow could be the catalyst that leads to more effective treatments, if not a cure, for millions of patients who suffer from diabetes and related illnesses, including Wolfram syndrome.
In 2011, Stephanie Snow Gebel and her brother, former Major League Baseball star J.T. Snow, established the Snow Foundation to raise awareness and funding to fight Wolfram.
Wolfram presents itself as Type I diabetes and ultimately leads to vision loss, hearing loss and cognitive decline. There are about 25,000 known cases of Wolfram in the world, and 60 percent of the patients die by their 30th birthday.
“From the time of diagnosis, they decline a great deal within five to eight years,” said Stephanie Snow Gebel, who with husband Barclay has four children, including Raquel, now 10.
“Raquel is legally blind now … she can’t see five feet in front of her. She has to go on medicine to control her bladder. She gets awful headaches and choking episodes.”
During Jack Snow’s playing career, he represented several charitable causes, including the Susan G. Komen (breast cancer), the Epilepsy Foundation and, most dear to his heart, the Juvenile Diabetes Research Foundation. His other daughter, Michelle, has a son, Jacob, who was first afflicted with diabetes as a young child.
“He was an out-of-the-norm athlete,” Stephanie said of her father, who teamed with Heisman Trophy-winning quarterback John Huarte in 1964 and left Notre Dame as the school’s all-time leader in single-season receptions, receiving yards and touchdowns. “He would go out and publicly speak and give his fee to the Rams’ charitable foundation. He was always doing things for people, and he never expected anything in return.”
Unlike the many charities Jack Snow endorsed, the Snow Foundation is one of a kind. It’s the only organization in the world dedicated to conquering the lesser-known Wolfram syndrome.
The Snow Foundation has raised close to $1.5 million for research, but it is about $2 million shy of the necessary funds to complete drug trials.
“We’re learning that lesser known diseases don’t get a lot of attention and have a hard time with fund raising,” said J.T. Snow, a former Gold Glove first baseman for the San Francisco Giants. “We’ve reached out to a lot of people. We got this thing rolling. We need to raise a lot more money to make sure people like Raquel are going to be taken care of.
“We’re kind of bummed out that my dad’s not around because he would have taken this and would have gotten a lot of attention for it. He would get people to buy in and to get into their checkbooks and help us raise money for these doctors who are studying Wolfram syndrome.”
Three generations…Papa Jack, Stephanie and tiny Raquel…
As analyst for the Rams’ radio broadcasts after his professional football career ended, Jack Snow accompanied the club when it moved to St. Louis in 1995. In a stroke of good fortune, the doctor who began researching and discovered Wolfram syndrome was Dr. Alan Permutt of Washington University in St. Louis.
Permutt, a diabetes victim himself, treated Raquel for nearly two years until his death in 2012. His work is being carried on at Washington University by Dr. Fumihiko Urano, whom Stephanie convinced to relocate his family from Japan to St. Louis.
“In focusing on a rare disease like Wolfram, we have uncovered a lot about common problems—that’s what is so exciting about it,” said Dr. Saad Naseer, chief executive officer and chief medical officer of The Snow Foundation.
“It’s diabetes, vision loss, hearing loss and brain deterioration. Those four collectively affect hundreds of millions of people. You probably know 10-12 diabetics personally. You know people whose vision and hearing deteriorate or have Alzheimer’s or Parkinson’s or some sort of other brain deterioration.
“The research we’re doing is applicable to all those people. If we find a new treatment for diabetes, it’s not just for Wolfram syndrome patients, it’s for every diabetic. The same goes for any treatments we develop for vision loss, hearing loss or brain deterioration.”
The doctors at Washington University recently received encouraging data from its first testing of mice.
“We actually prevented diabetes in all of the mice we gave our test compound to,” Naseer said. “We’re close, but the problem is we need a minimum of $2 million to complete all these studies in mice.”
To help come up with more funds, the Snow Foundation established a website, thesnowfoundation.org, to raise awareness and has staged events including golf tournaments, celebrity bartending functions and other activities to raise funds.
Stephanie and J.T. also reached out to the Notre Dame family, including former Fighting Irish quarterback Rick Mirer, whom Gebel calls “her little Notre Dame angel,” and Brian Murphy, an NFL player agent and Notre Dame graduate whose wife Lauren is a diabetic.
Mirer, who operates the Mirer Family Foundation that provides help for youngsters with health and educational needs, said Raquel’s illness reminded him of former Notre Dame coach Ara Parseghian’s three grandchildren who died from a rare genetic disorder.
“I ran with this because I had a lot of sympathy for Stephanie’s situation, and I wanted to introduce her to people who may be able to help,” Mirer said. “The Notre Dame family rallied around Ara’s situation and made an impact, hopefully eliminating a lot of other kids having to go through that.
“It’s been a little harder because she’s not Ara Parseghian. Eventually, we’ll get the right people aware of it and she’ll get the help she needs.”
Mirer hopes members of Notre Dame’s Monogram Club respond to the cause— and Murphy, who represents current and former NFL players from Notre Dame, believes they’ll step up to the plate, similar to how Jack Snow contributed his time and resources to worthwhile causes.
“This is going to sound corny,” Murphy said, “but this is what they teach you during your four years under the Golden Dome, that part of our purpose here on earth is to make our community better and to help those less fortunate and to give and to give and to give.
“It’s an old philosophy that you give what you get. Jack Snow was actively involved in all these charities, and now it’s time to help his family and a lot of people are anxious to give back to him because he helped so much.”
Once the doctors at Washington University complete the mice studies, the Snow Foundation will have sufficient data to approach a pharmaceutical company and ask it to take over the project.
“Our foundation is the Little Engine That Could,” Stephanie Snow Gebel said. “Keep your eye on us. We’re getting positive hits on the diabetic rounds with the drug we’re working on and positive hits on a drug we’re working on with vision.
“It’s going to be revolutionary. I think there’s a reason my child got this disease. I am a fighter, I am a momma bear, I’m not going to sit back and watch her deteriorate if I can do something about it. I’ve got my dad’s personality. I’m a mini-Jack Snow … ”
In all, Jack Snow had three children and eight grandchildren. In this quest to find a cure for Wolfram, the family still derives inspiration from Jack nearly 10 years after his death.
“He’s watching, and he’s helping out best he can,” said J.T. Snow. “We know that because little things here and there pop up and let us know that he’s paying attention, both he and my mom, Merry Carole, who we lost way too early (to cancer in 1998).
“We see the No. 84 a lot, his number with the Rams. Things that remind us of him, things a family would know. You go to the grocery store, and your grocery bill is like $84 … or a lot of times we travel, and we’re leaving out of Gate 84. Just random things like that let you know my mom and dad are watching.”
“Our foundation is the Little Engine That Could.”
With 2016 behind us and the promise of 2017 ahead, I sit in my front room looking at the beautiful fire, wondering where the time has gone.
My childhood was wonderful. I had two parents who loved me to the moon and back. My dad was one of a kind — handsome, charismatic and so proud of his three children. My mom was beautiful inside and out. My parents were always there for me. They were my cheerleaders when I needed a pick-me-up. They were my lighthouse when I was lost at sea.
I lost my mom to cancer five months before I married Barclay. She was just 54 years old. Talk about devastating! Imagine walking down the aisle on your wedding day, knowing your mom isn’t at the end of it. Then, seven years later, I lost my dad to a staph infection. He had just turned 62.
Life seemed to move a bit slower after I lost my father because now I felt orphaned. Anyone who has lost one or both parents knows this feeling all too well. However, I have to admit that the heartbreak of losing my mother and father doesn’t hold a candle to learning that my child has a rare disease and most likely will lose her life before she turns 30.
When you learn that your five-year-old child has insulin-dependant diabetes and will eventually lose her vision, hearing, balance, bladder control and breathing, the world just stops and you go numb. I wanted to turn to my parents, cry on their shoulders and have them tell me that everything would be all right. I wanted my dad to broadcast the hell out of this disease so we could raise the necessary funding to stop it. But they were both gone, and I would have to go solo on this one.
A child’s illness affects families in so many ways that most people will never understand. It affects the parents, siblings and friends. It’s not easy to be married and together have to watch your child deteriorate in front of you. As a sibling, it’s hard to enjoy the normal things in life knowing that your sister can’t. We always carry a bit of guilt because we can do things that she can’t. It’s a day-to-day struggle, but somehow I fight like hell to provide my children with a happy and normal childhood like I had, even though we face this devastating disease.
Recently, I had dinner with a good friend, and I spoke with tears in my eyes about how we are not really in control of any of this. How could so much change in such a short amount of time? My friend theorized that maybe those who had a happy childhood struggle when they get older, and those who had a bad childhood have good things happen to them later in life. Maybe this is the way the universe even things out. Who knows!
What I do know is that, like my parents, I will try with all my heart to create happy memories for my four children, even though we have to endure a reality that no family should ever have to endure — watching a loved one slip away. I will be their cheerleader when they need a pick-me-up, and their lighthouse when they feel lost.
I am a Florida mom with a child with Wolfram Syndrome. Actually, he’s no longer a child but he will always be my baby. My son is now 24, and has been affected by this disease since he was six years old. At that time, we lived in New York City with some of the best hospitals and doctors in the country. And not one of them even knew what Wolfram Syndrome was. All they could do is treat each symptom separately and hope for the best. They told me to give him the best quality of life I could because he would not make his 18th birthday. Thankfully, they were wrong.
After the initial anger and grief of the diagnosis, I slowly came upon acceptance, peace and then gradually, the permission to smile and be happy. I focused on living my life and learning to enjoy the everyday things, like your time together. When you know that tomorrow might not come, it changes you as a parent. Sometimes I come home from work and am exhausted from being up all night worrying about his blood sugars being too high or too low. Sometimes I just want to veg on the couch and watch TV but then my son may approach me, “Mom, I have to tell you something…” It may not be important to me, but it is to him so instead of saying “Not now, I’m tired, I’m watching TV, tell me later” I turn off the TV and cherish the fact that he loves me enough to share his thoughts and fears. Knowing that there may not be infinite tomorrows, my time with my son becomes the time I look forward to the most in my day.
Not many people know the feeling the sudden loss of all the hopes and dreams you have when bringing a child into the world. As a mom, my job is to fix the booboos and take away all the pain to protect my child from the bad things in his world, his school, and his life. Sadly in this case, I was powerless. It is so frustrating, and I’ve cried until I’ve had no more tears to cry. I have lived with the hope, and the fear, and the anger and the disappointment and the loss of expectations when there was no hope, no cure, no research, no information….no help. I have questioned my religion, my God and my faith. Why did this happen to my only child? It just wasn’t fair. It’s like mourning the loss of your child every day, but the loss has yet to come. I woke up almost every morning repeating the pain I felt from the day before. To make it worse, he was picked on throughout school, teased by his peers, and had very few friends growing up who had the heart and guts to defend him when he was being treated unfairly.
For eleven years, there was no hope, so I settled with acceptance, and made peace with God and tried to have fun and enjoy whatever time I would be granted with my son. Seven years ago, the research and clinics were started, along with the Snow Foundation to help them continue. With that came a new hope for a cure in the new future. Yet with this new hope, I’m faced with new fears: What if the trials are unsuccessful? What if the research isn’t funded? What if the cure is unaffordable or unavailable to the families who need it?
Our best hope is in organizations like the Snow Foundation who can ensure that research for the cure continues and that patients have both support networks and advocacy. I ask anyone reading this to please consider donating to this important cause to help save my son’s life…..to save all these children’s lives.
– Vicky
Wolfram syndrome afflicts only about one in 500,000 people, but a local organization is doing everything it can to bring the numbers down and find a way to cure this incurable disease.
As described on The Snow Foundation’s website, Wolfram syndrome is an autosomal recessive genetic disorder that starts with insulin-dependent diabetes in early childhood. Unlike with common types of diabetes, these children go on to develop blindness, deafness and other neurologic disturbances. Since there’s no cure for the disease, more than 60 percent of patients die before the age of 30.
The Snow Foundation’s dedication to research has led the group to a new and exciting stage: the first-ever worldwide clinical trial for Wolfram syndrome. For the past few years, the foundation’s researchers have been focused on pre-clinical testing, but after receiving unconditional institutional review-board approval, they are now ready to begin clinical testing. Dr. Saad Naseer, chief executive and chief medical officer of the foundation, says all the money from charitable donations is paying off.
“We plan on beginning the clinical trial in January,” he says. “All patients will receive the same dose of the same medication and will be monitored in the same manner. The patients will serve as their own control.”
Naseer notes that if the foundation can figure out a treatment for this form of diabetes, the treatment will be able to help all forms of diabetes.
“These kids lose their vision and hearing; it’s a premature and accelerated degenerative process,” he says. “And although there is no cure, our work may lead to therapies for this and other neurodegenerative processes such as Alzheimer’s and Parkinson’s.”
Washington University in St. Louis will be the epicenter of the trial, though it will include Wolfram syndrome patients from all over the world, including France, Brazil, England, Spain, Italy and Jordan.
“This all comes down to funding,” Naseer says. “Clinical trials cost millions of dollars. It’s been tough, but our results keep coming back positive, and we have an overwhelming amount of interest in participating in this clinical trial. I think if we’re able to get a large donor, it would ensure that more patients are successfully treated in an expedited manner.”
The Snow Foundation doesn’t have an office or salaries, so every single dollar goes directly to research.
“This is a David-and-Goliath kind of story,” Naseer says. “We’re small and underfunded, but I think with the right motivation and intention, we can go far in bettering the lives of these children.”
The Snow Foundation, P.O. Box 50224, Clayton, 636-448-4134, thesnowfoundation.org
Written By: Robyn Dexter
I received a great email today from a mother who teaches 4th grade PSR (Parish School of Religion) at our church St. Clare of Assisi.
She told me that at the end of their Monday night class, they around the room and each child will pray for someone or something important to them. She said one little guy in particular wanted to pray for a classmate who had diabetes and that he hopes we find a cure soon because he does not want her to hurt anymore. The classmate he was referring to was my daughter, Raquel. When I read this email, it touched my heart and brought a smile to my face. The hardest audience I have ever spoken in front of, (600 elementary children), actually understood what I had said to them during our Diabetes Awareness Month assembly at Babler Elementary. It warmed my heart that this little boy had comprehended that one of his classmates is struggling with her health. It was worth it and if I had to speak to a million elementary school kids…I would! It goes to show you that if we all try and spread the word about Wolfram syndrome, we just might raise enough awareness and support for the research that will one day revolutionize the diabetic world and save the life of my daughter and others like her who are living with this horrific disease. In the meantime, I’ll keep working and sharing our message because you never know who’s listening.
I have always had great intuition (good or bad), ask my friends and family! The Snow Foundation has hired a new President and CEO, Dr. Saad Naseer, who is driven and ready to make our dreams become reality. The foundation is finally receiving the full time attention and direction it deserves, which means Wolfram syndrome patients are going to get the help and their prayers answered. I am excited to spread the word and I mean really spread the word and I am more excited that Snow Foundation has the leadership to make it happen. My prayers have been answered and I am grateful. This year is going to be revolutionary, great changes are coming.
A quick description of my job; work 24/7, deal with scientists, researchers, doctors, philanthropists, sports figures, political figures, full time advocate for rare disease, counselor for parents and patients, breakfast, lunch, dinner meetings, travel around the world, public speaker, accountant, secretary, marketing and most important Fundraiser.
Combine all the above and they do not equal what it is like to fundraise. For anyone who has ever had to go out and ask for money, it is not fun. I hated it at first but now to be honest, I am learning to like it. Because each morning that I wake up and see my beautiful 10 year old daughter Raquel slip farther and farther away from her independence, it makes me very mad. Mad, because we are sitting around waiting. Our research is on hold, our clinical trials are on hold, drug therapies are on hold. The only thing holding us back is MONEY. We need a minimum of $4M to do the necessary research on the eyes, ears, brain and bladder and begin clinical trials on drugs that could possibly stop the progression of this disease and may even restore vision. As per experts, as we get into trials we may need to adjust this amount, but we cannot wait till we have perfect knowledge. We need to act NOW to save our children. MONEY does make the world go round, without it, these patients don’t have a chance.
Please visit our crowdfunding campaign at Snowfunds.org. We are asking you to contribute and spread the word and support our humble cause. Thank you.
My top priorities are to: 1) repurpose a FDA-approved drug and 2) develop novel drugs for Wolfram syndrome. I am also looking into environmental factors, diets, and life-styles that can potentially delay the progression of Wolfram syndrome. One of the possibilities I am looking into is to keep our blood sugar steady (i.e., maintain normoglycemia).
I have an impression that patients who maintain normoglycemia may have milder symptoms and delayed progression. I was reading an article introduced in the Wall Street Journal very carefully. This study was led by David Holzman, MD, a renowned Alzheimer’s disease scientist. His team’s study strongly suggests that high sugar levels in the brain accelerate amyloid deposition in the brain, which increases the risk for Alzheimer’s disease. Based on their study, neuronal functions and activities are altered by high sugar levels. We should look into this in our animal models of Wolfram syndrome.
Dr. Holzman’s study might explain the link between Type 2 diabetes and Alzheimer’s disease. Please note that Wolfram syndrome 1 gene variations are associated with the risk of Type 2 diabetes, the most prevalent form of diabetes.
Thank you for reading this blog. I am thinking of one of our patients and sincerely hope that her condition gets better. We really need a treatment for this devastating disorder.
Take care,
Fumi Urano
Various kinds of sugar in wooden bowls
Dr. Barrett and I gave lectures on Wolfram syndrome at the Japan-Korea Diabetes Symposium in Japan this week. Our lectures were successful. I had a chance to speak with Japanese physicians who see patients with Wolfram syndrome. The president of Japanese Diabetes Association, Dr. Tanizawa, and the President of the American Diabetes Association, Dr. Dagogo-Jack, were there.
I felt fortunate that I had a chance to present my progress at the symposium. Our goal is to conduct international clinical trials.
Thank you for your support. Thank you, Thank you, Thank you.
Take care,
Fumi Urano
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