The Journey Continues – Pat Gibilisco – Pt. 2

Part 2: The Journey Continues

Dr. Permutt and Jon Wasson, who helped discover the WS gene and named it WSF1, were leading the first-ever  WS clinic in St. Louis.  Dr. Hershey and many other fabulous doctors from Washington University in St. Louis and other areas of the United States, started the first database of WS families and symptoms. Dr. Permutt talked with us about his mission to find a cure for WS, and he was so overwhelmed with emotion that we were willing to help him with his dream, even though it was a financial burden on us.  For so many years, he studied only mice afflicted with WS.  Now he had actual patients with this terrible disease, and our united efforts to help him find a cure.  

We heard there wasn’t going to be a second clinic because Dr. Permutt’s grant did not come through for a second year.  Again, our hopes and dreams were crushed.  But soon we learned there was a new family diagnosed with WS right in St. Louis.  We discovered we had a mama bear ready to take on the mission.  Stephanie Snow came at us full speed.  She quickly set up fundraisers to get the money we needed, and through her hard work, the Snow Foundation was able to fund the second WS clinic.  

It was during the second clinic that we discovered Dr. Permutt had cancer.  He had said nothing to us so we were very surprised.  After the clinic, we learned he had died.  I felt all our hopes and dreams also died.  We had worked so hard and for so long to have the possibility of a cure within our reach, and I was completely devastated.  For only the second time since my daughter’s diagnosis, I broke down and cried.  

We thought we were back at ground zero, but we soon learned that Dr. Hershey had come up with a three-year grant.  With that grant and funding from the Snow Foundation, we were able to hold four more research clinics.  We also learned that Dr. Fumi Urano, who attended our first clinic, would take over Dr. Permutt’s role and research.  We were again headed in the right direction and had hope.  But the year after Dr. Permutt died, the clinic was a little somber.  One day Jon Wasson asked to meet with us.  He told us this would be his last clinic; he had cancer and was going to die. This was almost too much to bear. Again, we mourned the loss of another WS pioneer.

At the sixth research clinic, we learned that Dr. Fumi found a drug he believed would at least stop the progression of symptoms.  This was exciting news!  The only problem was that it had taken seven years to reach this point, and my daughter’s condition had worsened over that time.  They were ready to start the first human safety trials on the drug that could possibly stop the symptoms from progressing. The drug would target the optic nerve loss, the beta cells of the pancreas, and balance.  My daughter was already blind, and she had no beta cells left in her pancreas; the balance wasn’t enough to get her into the clinic. I told them that if the drug couldn’t help my daughter, we would step aside so it could help someone else.  What they didn’t know was that on the nine-hour drive home, I cried most of the way.  This was everything I had hoped for, but it was too late.  It was only the third time I cried since my daughter’s diagnosis.  I had failed her.

Continue to part 3>

My Wolfram Syndrome Journey – Pat Gibilisco – Pt. 1

Part I: The Beginning

My journey started 28 years ago. My daughter was two years old when she was diagnosed with Type 1 Diabetes. We were able to manage it and still live a great life. When she was 12, she started to have other health issues, specifically, problems with vision and extreme thirst. Our ophthalmologist suspected Wolfram Syndrome (WS). He noticed the pale optic nerve, and he suspected she also had Diabetes Insipidus. Our endocrinologist suspected Lauren had either a brain tumor or WS. Of course, not knowing what WS was, all I heard was brain tumor. Lauren underwent an MRI that determined she didn’t have a brain tumor, and we were ecstatic, until we learned what WS really was. I felt it was a death sentence.

Like any parent, I searched the Internet for information. Unfortunately, there wasn’t a lot of it, and what was available was so very scary. I was determined to find help for my daughter. I finally found Dr. Barrett from the UK. He told me he knew of only one other WS family in the United States. I was so excited to hear from another parent who understood my fears and questions. His family has eight children, five of them with WS. I rushed home every night hoping I had an email from him. Although he faced such a huge burden of knowing five of his children had WS, he was the most positive and spiritual person I had ever met. I could no longer avoid WS, and I decided we had to do something.

Fortunately he knew how to set up a website, and I had all the research material. Together, we started the first-ever WS family support website. My life continued to be consumed by WS, and I was on a mission to find a cure for my daughter. I called every doctor who had written articles on WS. I finally found Dr. Permutt, who had completed some research with WS. Dr. Permutt had started a small research project on WS, but due to lack of money, he abandoned it. I told him if he ever started one up again, please let me know. Nothing was going to stop me from searching for a cure.

I connected with three new WS mothers who were just as determined as I was. We researched and tried to contact anyone with information about WS that could help us. We were willing to be guinea pigs, if needed. We had nothing to lose. Meanwhile, Dr. Permutt told me he was going to St. Louis to start a small WS research clinic, although he had to start with mice. For the next few years, he kept me updated on his mice trials. Then one day he called to tell me he was starting the very first WS Registry. I was the first to sign up! It was headed by Jon Wasson. Dr. Permutt also scraped together a little money to start a research clinic, but he had no funding for participants. Money, however, was not going to stand in the way of a cure for my daughter. Seven other families and I agreed to come to St. Louis using our own funds to pay for gas or airfare, and hotel stay. We had families from New York, Pennsylvania, North Carolina, California, Nebraska and even Italy.

To be continued… Part 2 >

Jack Snow – His Cause Continues

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

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.”