My Fight Continues – Pat Gibilisco – Pt. 3

Part 3: My Fight Continues – Pat Gibilisco

Money was the only reason my child was not able to receive the drug that would potentially save her life.  The Snow Foundation, or I should say Stephanie Gebel, worked so hard to raise money for all children affected with WS.  She had to beg people, year after year, to continue to support the WS Foundation.  I can tell you that was not an easy task! She had some support from the other families with WS, but not enough.  Some families felt it was just too hard to ask for contributions. For 18 years, I have done everything I could to fight for all WS children.  I repeatedly asked my family and friends to help me save my daughter.  They were so generous in their efforts to help me find a cure for WS. Now I have to say that as much as I so appreciated their love, support and financial assistance, it was just too late.  The father from Utah also lost his five children afflicted with WS.  

Why does money always stands in the way of a cure?  Could we have had more help from our WS group?  Absolutely.  I can tell you that the Snow Foundation has fought for ALL the WS children.  Stephanie Gebel has fought to save her child’s life and every other family’s child.  Dr. Fumi, Dr. Naseer, Dr. Hershey, Dr. Hoekel, Dr. Marshall, Dr. White, Dr. Paciorkowski, Samantha, Beth, Cris, and all the other medical professionals and staff have fought hard to save our children.

Am I mad?  Yes.  Am I bitter? No.  Would I have done anything differently? No. It all comes down to money.  Now it is too late for a drug to save my daughter.  We started this fight 18 years ago, and it was ending for my daughter. No more clinical trials and no more clinics. My daughter is now totally blind and almost deaf, and she has bowel and kidney problems, seizures, choking episodes, heat intolerance, poor balance, Diabetes, Diabetes Insipidus, short-term memory loss, and many more issues that she deals with daily.  All the while though, she has such a smile on her face and soul. Lauren and all the other past and present WS children are the real heroes.  They are amazing kids.

For a fourth time, I will cry.  It will be at her funeral.  It will happen. Nothing can stop the clock from ticking.  I can tell you I will NEVER quit until a cure is found. I will continue the fight so no other family has to go through the heartache I have.  Please, I beg you, continue to fight the fight.  Do not let money come between your child and a cure.  We must save all the WS children.  I don’t want another family to watch their child slowly die from the inside out.  It is brutal to watch.

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.”

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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.”

Clinical Trial Update by Fumihiko Urano, M.D.

Dear Friends,

I would like to update you about the status of our clinical trial of dantrolene sodium in patients with Wolfram syndrome. Dantrolene is a US Food and Drug Administration (FDA)-approved drug currently used for different medical conditions. Based on our data, we received orphan drug designation of dantrolene sodium for the treatment of Wolfram syndrome from US FDA and European Medicines Agency (EMA) in 2016. We also ​received the​ green light from ​the ​FDA and Washington University Medical Center to proceed to a pilot clinical trial (phase 1b) to assess the safety and efficacy of dantrolene on patient’s vision, brain functions, and diabetes.

Thanks to the generous support from the Snow Foundation in collaboration with Ellie White Foundation and other private donors, I was able to commence the clinical trial and slowly started recruiting patients. I would like to recruit at least 24 patients and hope to secure more funds to accommodate all the patients who are eligible for this trial. Stephanie Gebel​ has told me that she will do her best to make this happen. ​I was just informed ​​this week that we will receive grant funding from the National Institutes of Health (NIH) to support this trial.

​have not forgotten​ about our patients in other countries. Dr. Tim Barrett in the UK and I are closely working ​to conduct international clinical trials for Wolfram syndrome. In parallel, we keep on developing novel drugs and regenerative therapies for Wolfram syndrome. Dantrolene could be a band-aid for Wolfram, but cannot provide a cure. Thus, we need pipelines for developing breakthrough treatments.

Thank you for your continued support.

Sincerely,

Fumi Urano, MD

Reflections

stephanie-snow-gebel-croppedWith 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.

End Of The Year Update

Dear Friends,

My highest priority right now is to work out the logistics for the upcoming clinical trial. As our medical center announced in November this year, we plan to start a phase 1b safety clinical trial of dantrolene sodium in patients with Wolfram syndrome. Dantrolene sodium is an FDA-approved drug utilized for the treatment of muscle stiffness. We found that dantrolene could prevent the destruction of insulin-secreting beta cells in animal models of Wolfram syndrome and in brain cells differentiated from skin samples taken from patients with the illness in 2014 after the 12 years of research. This drug can target the molecular pathways altered in Wolfram syndrome in cell and animal models of Wolfram syndrome. Nobody has ever tested dantrolene in patients with Wolfram syndrome, so our first and most important objective is to make sure it’s safe. We will also closely monitor patients’ vision and brain function, as well as the function of their remaining insulin-secreting beta cells based on the data collected through our research clinic study.

The major question that I get from every patient I see is, “Is there any treatment?” As you are aware, there is currently no treatment that can slow, halt, or reverse the clinical manifestations of Wolfram syndrome including vision impairment and diabetes. I sincerely hope that this study can help change that. I have been working diligently to commence the trial early next year, hopefully in January 2017, and secure additional funding from the National Institutes of Health to recruit more patients. Please contact my nurse coordinator, Ms. Ashley Simpson (+1-314-286-1550, ashley.simpson@wustl.edu) or check our medical center’s website (http://wolframsyndrome.dom.wustl.edu/clinical-trials/) for more information. I appreciate the support from the Snow Foundation and Ellie White Foundation for the upcoming trial.

I have been working with Dr. Tim Barrett in the UK to conduct international clinical trials for Wolfram syndrome. In parallel, we keep on developing novel drugs and regenerative therapies for Wolfram syndrome.

As we near the end of this year, I would like to take this opportunity to thank you all for your continued support. You have provided patients with hope and emotional support. Together with you, we can make a difference in the future of our patients. Thank you again for your generous support and continued encouragement. You gave me the power and courage to continue. I cannot thank you enough. I hope you have a wonderful holiday season.

Sincerely,

Fumi Urano, MD

Wolfram Mom in Florida

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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

Struggles With A Rare Disease

A lot has happened over the last month and lately, I have been extremely exhausted and find myself wanting to crawl in bed, get under the covers and stay there for as long as possible.  I am a warrior for this disease and for all those suffering from it. Hell, my tiny little foundation has raised and contributed over a million dollars in our fight against Wolfram and we are going to a clinical trial on a drug that “could” stop the progression of this nasty disease. 

I can handle this aspect of the disease because I feel, in a way, I can control the outcome to help my daughter and others like her. One challenging fact is the outcome will be dictated by the amount of money we continue to raise. I am hopeful though that many others will see the vision and join our fight.

As each day passes, I can not control the health of my beautiful Raquel. I have noticed how sick my child really is, and I think this is taking a major toll on me personally, and I am really struggling with it.

I have four unbelievable children, yet one suffers tremendously from a disease that has no CURE.  I witness my other daughters and son maturing, exploring and growing like they should be. They have tons of friends, sleepovers and are enjoying life the way they should be at their age. Yet I watch my 11 year-old struggle each and every day. Perhaps I should also acknowledge in my journey alongside her, I am also struggling.

I had a great childhood, a secure childhood with fabulous parents who taught me wrong from right and how to be a good person. I was also a healthy kid and so were my siblings.  I believe that when I met the man of my dreams and decided to have kids that I would provide a great childhood and life for my kids the way my parents Merry and Jack Snow had provided me.  Now in retrospect, that did not work out the way that I thought it would.

Raquel has missed more school days than she has attended this year.  She seems to be sick all the time with headaches, bladder issues, high blood sugar, stomachaches, exhaustion. The list goes on and on. My heart aches for this child of mine who suffers so much, although I am not sure if Raquel sees it the same way.  I witness her inability to be a normal 6th grader. If her blood sugars are high or low, she will go to the nurse’s office, sometimes she will be in the nurse’s office all day. 

She misses out on her classes, teachers, friends and simply experiencing school like all the other kids. She has a special ed teacher accompany her around, so it is like having a grown up with you all day long. I wonder how she is perceived by her peers. Raquel called a few friends of hers this past Halloween to see if she could trick or treat with them. Everyone said they already had plans. They could’ve easily invited her along, but did not.  Then to see these same friends come to my door and ask for candy broke my heart. 

I have to learn to accept what I cannot change. As a mother knowing that your child is going blind and most likely will not make it to her 30th birthday, I wish for her the most joyful childhood memories, as they are the ones that she will have with her forever. 

Sometimes I think even her own siblings do not get what she is going through. So I am not mad at her friends or her siblings, I am mad at the situation at hand, and I am frustrated that I cannot raise the amount of money quick enough to make life better for her. 

But I am hopeful for the future, what we’re doing with the Snow Foundation and the possibilities that are available for Raquel and others like her. I hope for the day that I can give Raquel the world that I had dreamt of giving her the day she was born.

The Snow Foundation: Fighting for a Cure

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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