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.

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

August 2016 Elimination Dinner in Greensboro-Monongahela Township

Caitlin Fess is a beautiful young lady who has Wolfram syndrome and isn’t afraid to talk about her disease and spread awareness.

The Snow Foundation wants to thank Caitlin’s mother Dena, her father Brad, and the rest of the Fess Family for putting together the Elimination Dinner Event. They raised over $6,000 at the event for the Snow Foundation. We are extremely grateful to the families and their friends who are helping make a difference.  We are nothing without all of you.

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Team Alejandro’s 6th Annual Run to Beat Wolfram Syndrome!

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On Sunday, March 20, 2016, Team Alejandro participated in The Oakland Running Festival in their 6th Annual Run to Beat Wolfram Syndrome! Team Alejandro ran in support of 12 year-old Alejandro Jimenez (a Wolfram Syndrome Patient) as well as all children and young adults affected by Wolfram Syndrome.  They successfully raised $12,374.00 which will help The Snow Foundation increase awareness of Wolfram Syndrome and find a cure.

 

Gianna’s Vision of Hope Fundraiser

Gianna Vision of Hope Photo

Crazy Bowl For Alex’s Army

Bowl For A Good Cause

Join Alex’s Army for a fundraiser with bowling, raffles and an auction on April 26th from from noon to 4pm at the Concord Bowl. Proceeds benefit The Snow Foundation for Wolfram syndrome research. $20 per person includes hot dog or hamburger, chips with a drink and the option to bowl. (Additional concessions will be available for purchase.)

To register please contact Amber Bieser at amberbzr@gmail.com

Crazy Bowl Fundraiser for Wolfram syndrome

Run for Wolfram 5K

Members of the St. Louis community came out to support the Snow Foundation on Saturday, May 30th for a 5K Run to help raise money for Wolfram syndrome research.  The day was kicked off by St. Louis Cardinals very own FredBird who started the race. Attendees enjoyed Dewey’s pizza, Kona Ice and two gigantic bounce houses.  A huge thanks for our sponsors, volunteers and runners!  The race raised nearly $8,000 which will go towards mouse trials beginning in June.

The results of the 5K race can be viewed at:

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5th Annual Run to Beat Wolfram Syndrome

Run to beat Wolfram syndrome

Alejandro “getting a lift” from his fellow teammates.

On Sunday, March 22, 2015 Team Alejandro participated in the Oakland Running Festival in the 5TH Annual Run to Beat Wolfram Syndrome! The team raised over $10,000 for Wolfram syndrome research.

Team Alejandro ran in support of 11 year-old Alejandro and of all children affected by Wolfram Syndrome. Donations went to support research at Washington University School of Medicine which is fast advancing potential treatments to slow the progression of the disease and to ultimately find a cure.

Thanks to all that supported the team for the 5th year in a row!

3rd Annual Run to Beat Wolfram Syndrome

Team Alejandro is Back!

4_TeamAlejandroThe friends and family of 9-year old Alejandro Jimenez have formed “Team Alejandro” for the 3rd year in a row to “Run to Beat Wolfram Syndrome.” On March 24, 2013, Team Alejandro will participate in The Oakland Running Festival in honor of 9-year old Alejandro, Raquel, and all of the children affected by Wolfram syndrome. Please join the team, sponsor a runner, or volunteer to help raise awareness of and funding for continued research that will one day stop the progression of Wolfram syndrome.

The goal of Team Alejandro is to raise $10,000. We know we can do it with your help.

Make your donation today by clicking on the yellow “DONATE” button on the left.  In the “Notes to Seller” section please put “TA” for Team Alejandro.

Thank you for your support!
For more information: nvaldezjimenez@gmail.com or karoloaparicio@gmail.com

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