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

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