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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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.

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.

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.

Why Does it Feel Like I’m Feeding her to the Wolves

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Opening the doors

The drive was mostly quiet except for my pounding heart beat. I looked over at Raquel in the passenger seat as she twiddled her thumbs. I felt like I could break at any moment, the nerves were getting to me. I wondered how Raquel felt? Was she ready? I sure wasn’t.

Today was the first day of school. I already sent my eldest daughters, Merry and Lauren to high school. Lauren is a Freshman and Merry is a Junior. They had each other, so I knew they’d be alright, and Merry was already the well-known, popular, star-studded upperclassman. Raquel had no one except for the student aid she was assigned for the first week of classes.

An Anxiety Attack When Meeting the Wolf Pack

My anxiety was at an all time high. When we pulled up to the school and I dropped her off, I noticed the teacher that was waiting to accompany Raquel to her locker. I watched her as she walked away, fearing a sudden misstep or trip over something she couldn’t see, even a small pebble. I tried to curb my nerves, but my heart dropped with every step.

I wanted so fiercely for Raquel to be accepted. After all, she is my baby cub, and I couldn’t bare the thought of her being eaten alive. Sending you daughter who can barely see five feet in front of her into the den of hundreds of crazed pre-teens is like eating cold soup; It leaves a bit of a sour taste in your mouth.  

Diagnosing Disaster

The air was cold around me. It was probably just my body reacting to Raquel’s absence. I wanted to hold her hand as she walked through the halls. I wanted to hug her and make sure she was okay. I wanted to be there to scold any child that looked at her like she was different. I knew I had to relinquish my leash. I couldn’t be there to guide her through life in some aspects, and I knew she had to make it on her own. She is growing up, and I think that’s what I fear the most.

Good Fortune

Hours later when Raquel got back in the car, I asked her, “How was your day sweetie?” My heart was racing with the fear of the unknown. I hoped that nothing happened to her. I was trying to hide my worry, but I couldn’t bare the thought of her Wolfram syndrome deterring her happiness. It’s all a mother could want for her child. When Raquel looked at me, I didn’t see the same blank nervousness, but the glint of a smile. “I made a new friend,” she said. With that, I finally was at ease.

You Never Know Who’s Listening

wolfram syndrome diabetes panelI received a great email today from a mother who teaches 4th grade PSR (Parish School of Religion) at our church St. Clare of Assisi.

She told me that at the end of their Monday night class, they around the room and each child will pray for someone or something important to them. She said one little guy in particular wanted to pray for a classmate who had diabetes and that he hopes we find a cure soon because he does not want her to hurt anymore. The classmate he was referring to was my daughter, Raquel. When I read this email, it touched my heart and brought a smile to my face. The hardest audience I have ever spoken in front of, (600 elementary children), actually understood what I had said to them during our Diabetes Awareness Month assembly at Babler Elementary. It warmed my heart that this little boy had comprehended that one of his classmates is struggling with her health. It was worth it and if I had to speak to a million elementary school kids…I would! It goes to show you that if we all try and spread the word about Wolfram syndrome, we just might raise enough awareness and support for the research that will one day revolutionize the diabetic world and save the life of my daughter and others like her who are living with this horrific disease.  In the meantime, I’ll keep working and sharing our message because you never know who’s listening.

Great Changes Are Coming

I have always had great intuition (good or bad), ask my friends and family! The Snow Foundation has hired a new President and CEO, Dr. Saad Naseer, who is driven and ready to make our dreams become reality. The foundation is finally receiving the full time attention and direction it deserves, which means Wolfram syndrome patients are going to get the help and their prayers answered.   I am excited to spread the word and I mean really spread the word and I am more excited that Snow Foundation has the leadership to make it happen. My prayers have been answered and I am grateful. This year is going to be revolutionary, great changes are coming.

 

A Mom on a Mission!

prescription drug imageA quick description of my job; work 24/7, deal with scientists, researchers, doctors, philanthropists, sports figures, political figures, full time advocate for rare disease, counselor for parents and patients, breakfast, lunch, dinner meetings, travel around the world, public speaker, accountant, secretary, marketing and most important Fundraiser.

​​Combine all the above and they do not equal what it is like to fundraise. For anyone who has ever had to go out and ask for money, it is not fun. I hated it at first but now to be honest, I ​am learning to like it​. Because each morning that I wake up and see my beautiful 10 year old daughter Raquel slip farther and farther away from her independence, it ​makes me very mad​. Mad, because ​we are sitting around waiting. ​Our research is on hold, our clinical trials are on hold, drug therapies are on hold. The only thing holding us back is MONEY​. We need a minimum of $4M to do the necessary research on the eyes, ears, brain and bladder and begin clinical trials on drugs that could possibly stop the progression of this disease and may even restore vision.​ As per experts, as we get into trials we may need to adjust this amount, but we cannot wait till we have perfect knowledge. We need to act NOW to save our children. MONEY does make ​the world go round, without it, ​these patients​ do​n’t have a chance​.

​Please visit our ​crowdfunding campaign at Snowfunds.org. We are asking you to contribute and spread the word and support our humble cause. Thank you.

A Mom’s Take On The Paris Wolfram Symposium

Stephanie Snow Gebel at Paris Wolfram symposium

Me and fellow Wolfram syndrome families from Italy along with Dr. Urano.

I attended my 3rd Wolfram symposium held in Paris France this past week. I brought along with me my sweet daughter Raquel and our babysitter, Kat Broom. I felt it was important to let Raquel experience Paris before she completely loses all of her eyesight.  As of now, she is considered legally blind.

I am usually invited to the Paris Wolfram symposium because I represent a foundation from the United States that has been raising money to help fund Wolfram syndrome research. This research will ultimately lead to a drug therapy.

The meeting is comprised of researchers, scientists and doctors who discuss their discoveries over the last 18 months. Half of the information that was shared was way over my head. Towards the end of the meeting I decided to be brave and speak up. I shared my feelings that although all their studies on various aspects of Wolframs are important, we need to discover drug therapies to stop the progression of this disease. (I had to back pedal a little and re-state my words because I came across a little harsh and straight to the point. For those of you who really know me, that would not surprise you).

Raquel Gebel at Paris Wolfram symposium

Raquel lighting at candle for her cousin Jake at one of the beautiful Paris cathedrals.

This whole ordeal is a slow process, I understand, but as a mother who has to continually watch her child suffer because of this disease, I feel like we are going at a snails pace. I had a couple individuals speak their mind as well, and it was not in my favor. I held my own though, with the exception of breaking out in a rash on my neck and chest because of my nerves. I made it very clear that these children and young adults do not have time to wait. If the money is being raised, lets hit this and hit it fast. My goal when I return to Paris (which will be in another 18 months) is that I will be able to let all these individuals know that my previous comment about going to slow was just what they needed to hear. You can have all the brilliance of M.D.s, Ph.D.’s, scientists etc. but never, I say never go up against a MOM! You are not going to win…