Reflections

stephanie-snow-gebel reflectionsWith 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.

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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

Raquel and Braces.

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Today Raquel is getting braces. It wasn’t the fear of her coming out with braces that heightened my anxiety, but it was the process. She was going to Demko Orthodontics, and they are wonderful. However, I was acutely aware of the fact that they probably have never had a patient like Raquel with some of her limitations.

I’ve been through the process of getting braces before with my two oldest daughters but it was different this time. We walked into our orthodontist office I said “go sign in sweetie.” But then I remembered, she can’t even see the computer to sign into. I have always raised my kids to be self-sufficient but Raquel is different. After I helped her sign in she was called back into the room. With my other daughters I would relax and do some light reading in the lobby but with Raquel’s hearing and vision loss, I sat there anxious as my mind ran wild.  What if the sharp tools scared her because she wasn’t able to see them until they were right next to her face? What if she panicked at the feeling of something drilling her teeth? I finally put my mind at ease by remembering I did the right thing by letting her go alone. I can’t coddle her forever.

I was hastily tapping my fingers against the chair armrest in the lobby when I saw Raquel walk into the lobby. I quickly jumped up to greet her. I got down on my knee and opened my arms to give her a tight hug. When I released, I looked at her and she was smiling. “How was it, sweetie?” I asked her.

Raquel then described to me a story that made my heart swell. Apparently, she daydreamed through the entire procedure and dreamt that she was flying. She touched the stars and when she woke up, she told the orthodontist that she flew. He told her that a superhero like her deserved a beautiful smile, and that he felt lucky he was able to give it to her.

Some days I struggle with feeling like the world is closing in on me, and that my daughter might never have the life that she deserves. Today, I felt lucky. Sometimes even the worst situations can have a positive outcome. Each day when Raquel faces changes in her life, I am afraid of what might happen. But today, when we come across people that help make it a little easier, it reminds me that my daughter is an inspiration. She has been dealt an unfortunate hand, but she remains strong and beautiful, and I can’t help but be proud of her.

Finding A Cure for Victor

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It’s been almost a year now since my 7 year-old son Victor was diagnosed with Wolfram Syndrome.  I still remember the day we found out, we got the diagnosis and then were basically sent home. Our doctor said all he could do is to try to treat the symptoms but not the cause because there was no treatment.  We live in Norway and to our knowledge there are only 3 other patients in the country with Wolfram syndrome. Our pediatrician had never heard of Wolfram Syndrome so he was not even able to provide further explanation or information to us.

At the moment our son only has 2 symptoms: diabetes mellitus and optical atrophy. We did not notice his vision loss until a routine check at school which diagnosed him with only 30% of his vision left. We sometimes still forget about Victor’s vision loss since he can still read, watch tv, and play tennis despite the optical atrophy.  It is difficult to think about how talented Victor is and not think about his future.  I spend nights wondering how long will he be able to live a normal life, how long will will be still be able to draw, how long will he still be able to hear the sounds of the birds in the morning, how long will be still be independent like other kids his age. The thoughts that rush through my head only bring me to tears.

My husband and I cannot simply live with the knowledge that our son will be suffering for the rest of his life and that he will probably die early without fighting; we need to stop this now! We are in 2016, we have found cures for many diseases and aggressive cancers. When will we find a cure for Wolfram syndrome?  We can and we must fix this so that when Victor eventually learns about his disease, he will see that he is not alone but that we have been fighting for a cure from day one. We are only defeated if we lose hope through all of this.

For the past 10 months, we have been looking worldwide to find a cure for our son.  The first experts who could tell us exactly what our son was suffering of were Dr. Urano and Dr. Barrett.  After speaking to them, we have a better understand of what we are dealing with. More importantly, they gave us hope. They are currently working on clinical trials for two drugs that can actually delay the progression of Wolfram. When we learned about their efforts and progress, we knew we needed to help find a cure for Wolfram Syndrome by raising money and creating awareness.

We have just started our first fundraising event and will soon provide our first donation to the ongoing Wolfram syndrome research efforts. Together with the other patient associations around the world, we want to join forces in order to beat this rare disease and save the lives of our precious children.

Please join us and the Snow Foundation to help find a cure for Victor and so many other children with Wolfram Syndrome.

– Eline Vanden Bussche

How Do I Calm My Frantic Heart?

Judgment Day

No longer were the days of scheduled naps, gold stars, and lollipop rewards. For Raquel, no longer were the days of naive young children with innocent ignorance, but now the transition to very aware adolescents with a far too critical eye. I should have been excited at the idea of Raquel progressing in her life, but once she received her elementary graduate certificate, I was more afraid than ever.

It was the sixth grade orientation when my mind began to spiral. I was acutely aware of the way people looked at Raquel. The apprehensive looks and hesitant eyes were so apparent. A volunteer approached us and politely asked Raquel to sign her name without knowing that she couldn’t even see the place she was supposed to sign. It wasn’t her fault. It’s no one’s fault. However, that still did nothing for my peace of mind.

The Normal thing to do: A Wolfram’s fight

The long walk down the hallway filled with pre-pubescent eleven year olds was no better. Raquel’s older sisters were there to accompany her, but that still didn’t help when it came time for her to interact with the other children. After all, she couldn’t even see who was saying “hello” to her. How was she supposed to make friends, or fit in, when she can’t even distinguish one face from another? We all have an innate desire to be normal, and we usually easily achieve this, but Raquel is different. There’s always going to be the constant fight that comes with the realization that she will never be normal no matter how hard she tries.

The burden of Staples and Office Depot

From multi-colored notebooks to patterned binders and colorful backpacks, middle school transition should be fun and exciting. My eldest daughters had so much joy in picking out their bundles of school supplies at this same stage. This is where they got their first locker equipped with the too complicated combination for their ages. Raquel can’t have any of that. She doesn’t get a choice. She has to have supplies that help her see and a different lock on her locker because she is unable to use a regular lock. In the fight for normal, Raquel sticks out like a sore thumb.

Anxiety’s cure: Finding our blessings

We all take for granted what we have and how normal life is until you have to experience it first hand with someone who struggles each and every day of her life. As a parent, I can’t help but feel worried for my child and panic at each hour of the day just wondering if she is okay. The world can be cruel sometimes, and it kills me inside to know that I can’t always protect her. I do know, however, that I have to remain strong for my daughter. Each day she finds it within herself to fight for something normal. She has taken what life has thrown at her, and yet she continues to live, and for that I feel blessed.

My Self Reflection by Federica D’Elia

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It’s been about a year and a half since I was diagnosed with Wolfram syndrome. I look back and find myself self reflecting on my story and the emotional roller coaster that I have been though. When my doctors first gave me my diagnosis I felt strangely satisfied in some way. Until then, I had spent years in the unknown and plagued by symptoms that no one could give me an answer to. It was scary not knowing what was wrong with my body and also upset no one could tell me what was going on. I just kept hearing my doctors tell me ‘they are looking into it’ and ‘sorry we don’t have the answers’ but finally after years of unexplained symptoms, I finally had the answer I needed.

However it wasn’t long before a new wave of emotions came over me..  I first became angry that it had taken so long for them to find out I had Wolfram syndrome. Wolfram isn’t a disease with slow progression, so I felt I had lost a lot of valuable time not knowing how to fight this or knowing how to take my of myself in the best way possible. After I calmed down I began to feel alone and fearful. Since Wolfram syndrome is rare disease it only affects a small percentage of the population, I began to worry I would have a hard time finding a support group that would understand what I was going through.

Thankfully after days and months of research I found online support groups for Wolfram patients. My mind was finally at ease knowing I was no longer alone in this journey.  I feel so blessed to meet and talk to others like myself and hear their stories and my self esteem has recovered and grown through these amazing groups and individuals.

Today, thanks to myself, my family and other great supportive people in my life I have risen above my original emotions and now hold my head up high with a drive. Since being diagnosed with Wolfram syndrome my vision of life has changed. As Wolfram syndrome is a rare disease, I now know that I need to bring awareness of this awful disease. I didn’t want others to spend years alone with no diagnosis wondering what was wrong with them and why no one could give them answers. I want to make sure that they have all the resources they need to fight Wolfram syndrome as early has possible.

Although I have been through many difficulties in my life, I have also had so many amazing opportunities. I could have spent my life focused on all the negative aspects and been alone and at the bottom of a whole but I choose to look at the positive side of this. Once you hit rock bottom you can only go up from there. I have chosen to hold my head up high, climb up and help others up as well!

– Federica D’Elia

3 Things on my Mind When I Work on Wolfram syndrome

While working on Wolfram syndrome there are three things that are always on my mind: improving clinical care, raising awareness, and providing a cure. These three things motivate myself and my team to work hard every day.

 

Improving Clinical Care

Our effort to understand the progression and neurological symptoms of Wolfram syndrome will help improve the clinical care we give our patients. Clinical trials throughout the world have specific qualifications before they begin and thanks to our researchers from around the globe in the last few years there has been significant progress and we now know the appropriate measurements to use in our clinical trials. There are also new hypotheses on how Wolfram syndrome affects the brain that will soon be tested in research models, which will lead to more targeted treatments for the neurological systems and improve the clinical care for the patients. This is all thanks to multiple foundations around the world like The Snow Foundation who are helping us raise awareness and helping us raise funds to make these trials possible.

 

Raising Awareness

Awareness for Wolfram syndrome has grown significantly with help from advocate groups such as The Snow Foundation and the Ellie White Foundation. We could not have accomplished the research we have conducted so far without these organizations and other advocate groups  and we want to thank and recognize all the groups for being a part of our research efforts. However we still depend heavily on NIH (National Institutes of Health) grants to help us with a significant amount of funds for our research to find a cure. NIH grants have increasingly difficult to get and we are working on getting more funding in the next year. The awareness and research funds play the largest part in helping us find a cure for Wolfram syndrome.

 

Providing a Cure

To provide a cure, we need to first delay the progression of the disease so that we have more time to develop regenerative therapies and gene therapies. To accomplish this milestone, I have been focusing on “repurposing” one of the FDA-approved drugs (i.e. existing drugs) for the treatment of patients with Wolfram syndrome.  We have been making steady progress on this.

As I reported before, we discovered that dantrolene sodium currently approved for the treatment of spasticity (muscle stiffness) could delay the progression of Wolfram syndrome in animal and cell models. We obtained the orphan drug designation of dantrolene sodium for the treatment of Wolfram syndrome from the US FDA early in 2016.

I have been working on the logistics to commence a clinical trial of dantrolene sodium for the treatment of Wolfram syndrome at our medical center. I hope to start the trial in December of this year and the plan is to enroll 25 patients or more. The trial may last 2 years. I plan to monitor safety, vision, neurological functions, and diabetes in our patients since those are the primary indicators of Wolfram syndrome. As I reported before, type 2 diabetes is associated with Wolfram syndrome 1 gene variations.

We are trying to get more funds from the National Institutes of Health to recruit more patients, and we want to thank The Snow Foundation and Ellie White Foundation for planning to support this trial financially.