My Fight Continues – Pat Gibilisco – Pt. 3

Pat GibiliscoPart 3: My Fight Continues – Pat Gibilisco

Money was the only reason my child was not able to receive the drug that would potentially save her life.  The Snow Foundation, or I should say Stephanie Gebel, worked so hard to raise money for all children affected with WS.  She had to beg people, year after year, to continue to support the WS Foundation.  I can tell you that was not an easy task! She had some support from the other families with WS, but not enough.  Some families felt it was just too hard to ask for contributions. For 18 years, I have done everything I could to fight for all WS children.  I repeatedly asked my family and friends to help me save my daughter.  They were so generous in their efforts to help me find a cure for WS. Now I have to say that as much as I so appreciated their love, support and financial assistance, it was just too late.  The father from Utah also lost his five children afflicted with WS.  

Why does money always stands in the way of a cure?  Could we have had more help from our WS group?  Absolutely.  I can tell you that the Snow Foundation has fought for ALL the WS children.  Stephanie Gebel has fought to save her child’s life and every other family’s child.  Dr. Fumi, Dr. Naseer, Dr. Hershey, Dr. Hoekel, Dr. Marshall, Dr. White, Dr. Paciorkowski, Samantha, Beth, Cris, and all the other medical professionals and staff have fought hard to save our children.

Am I mad?  Yes.  Am I bitter? No.  Would I have done anything differently? No. It all comes down to money.  Now it is too late for a drug to save my daughter.  We started this fight 18 years ago, and it was ending for my daughter. No more clinical trials and no more clinics. My daughter is now totally blind and almost deaf, and she has bowel and kidney problems, seizures, choking episodes, heat intolerance, poor balance, Diabetes, Diabetes Insipidus, short-term memory loss, and many more issues that she deals with daily.  All the while though, she has such a smile on her face and soul. Lauren and all the other past and present WS children are the real heroes.  They are amazing kids.

For a fourth time, I will cry.  It will be at her funeral.  It will happen. Nothing can stop the clock from ticking.  I can tell you I will NEVER quit until a cure is found. I will continue the fight so no other family has to go through the heartache I have.  Please, I beg you, continue to fight the fight.  Do not let money come between your child and a cure.  We must save all the WS children.  I don’t want another family to watch their child slowly die from the inside out.  It is brutal to watch.

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The Journey Continues – Pat Gibilisco – Pt. 2

Pat GibiliscoPart 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.

Continue to part 3>

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My Wolfram Syndrome Journey – Pat Gibilisco – Pt. 1

Pat GibiliscoPart I: The Beginning

My journey started 28 years ago. My daughter was two years old when she was diagnosed with Type 1 Diabetes. We were able to manage it and still live a great life. When she was 12, she started to have other health issues, specifically, problems with vision and extreme thirst. Our ophthalmologist suspected Wolfram Syndrome (WS). He noticed the pale optic nerve, and he suspected she also had Diabetes Insipidus. Our endocrinologist suspected Lauren had either a brain tumor or WS. Of course, not knowing what WS was, all I heard was brain tumor. Lauren underwent an MRI that determined she didn’t have a brain tumor, and we were ecstatic, until we learned what WS really was. I felt it was a death sentence.

Like any parent, I searched the Internet for information. Unfortunately, there wasn’t a lot of it, and what was available was so very scary. I was determined to find help for my daughter. I finally found Dr. Barrett from the UK. He told me he knew of only one other WS family in the United States. I was so excited to hear from another parent who understood my fears and questions. His family has eight children, five of them with WS. I rushed home every night hoping I had an email from him. Although he faced such a huge burden of knowing five of his children had WS, he was the most positive and spiritual person I had ever met. I could no longer avoid WS, and I decided we had to do something.

Fortunately he knew how to set up a website, and I had all the research material. Together, we started the first-ever WS family support website. My life continued to be consumed by WS, and I was on a mission to find a cure for my daughter. I called every doctor who had written articles on WS. I finally found Dr. Permutt, who had completed some research with WS. Dr. Permutt had started a small research project on WS, but due to lack of money, he abandoned it. I told him if he ever started one up again, please let me know. Nothing was going to stop me from searching for a cure.

I connected with three new WS mothers who were just as determined as I was. We researched and tried to contact anyone with information about WS that could help us. We were willing to be guinea pigs, if needed. We had nothing to lose. Meanwhile, Dr. Permutt told me he was going to St. Louis to start a small WS research clinic, although he had to start with mice. For the next few years, he kept me updated on his mice trials. Then one day he called to tell me he was starting the very first WS Registry. I was the first to sign up! It was headed by Jon Wasson. Dr. Permutt also scraped together a little money to start a research clinic, but he had no funding for participants. Money, however, was not going to stand in the way of a cure for my daughter. Seven other families and I agreed to come to St. Louis using our own funds to pay for gas or airfare, and hotel stay. We had families from New York, Pennsylvania, North Carolina, California, Nebraska and even Italy.

To be continued… Part 2 >

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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.

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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.

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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

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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.

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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

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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.

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My Wolfram Syndrome symptoms – Lauren Gibilisco

Hello everyone. My Botox surgery was a success. I am happy to report that I am getting up only two or three times a night instead of every hour. I don’t feel as tired anymore through out the day.  This has made me feel so much better. I am able to drink a lot more and hold a lot more than every before. This gives me a lot more energy so I can talk a lot more which is just what my mom needs. LOL.

I was also able to go back to my volunteer job this week where I shred paper. Who better to shred confidential papers than someone who can’t see anything on them. ha-ha. I’ve had this job since high school which I really enjoy.  The people there treat me like anyone else. They don’t pity me. In fact quite the opposite. They love to give me a hard time and tease me. It’s hard to know who is getting more harassed, them or me. My mouth is the only part of me that is not affected by WS.

I should back up and tell you a little about me. I am affected by all aspects of DIDMOAD. DI (DIABETES INSIPIDUS), DM (DIABETES MELLITUS), OA (OPTIC ATROPHY, D (DEAFNESS). I am legally blind and use a cane to get around. I wear hearing aids for high frequency hearing loss. I was diagnosed with Diabetes Mellitus when I was two years old and take insulin shots. The Diabetes Insipidus is controlled by medication. I take 20 prescription pills every day to control my WS. I was diagnosed with WS when I was 12. I have other symptoms but I will talk about them another day.

Have a great week everyone.

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