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