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.

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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.

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