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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Living With Wolfram Syndrome – 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.  Winking smile
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.

Living With Wolfram Syndrome – Lauren Gibilisco

It’s been 10 years since I graduated from High School. We had our 10th year reunion this last weekend. I had to find someone who could help lead me around. I love my mom but going to a reunion with your mom is just not cool, so I asked my friend Meredith to take me.

The first festivity was a float in a parade. The class reunions are always during our town’s celebration weekend. As much as I wanted to sit on the float with my classmates, I knew it would be impossible. The weather was 85 degrees which is way too hot for me to be outside long and then there was the problem of needing a restroom. We had to line up on our float an hour before the parade and then the parade was an hour long. I can’t go that long without needing the restroom. It really disappointed me but I’ve learned there are things I just can’t partake in.

The next festivity was out at a cabin.   I talked with my mom and decided it would just be too hard for me to walk across an uneven surface, be outside in the heat, and again needing the restroom. So we decided to just skip that also. Then my friend Meredith said she was only going to stay out there for an hour and would help guide me around. I was very excited about that. I really did want to go but didn’t want to be a burden to anyone. But Meredith insisted that I wouldn’t be a burden and she would be glad to take me there. I was really happy I went. I got to see a lot of my classmates. Well I couldn’t SEE them but I was able to talk with them and say hello. Meredith took me around and let me know who was there so I could say hello to everyone.

Then that evening there was a dinner banquet. Meredith again took me there and helped me to the table. Unfortunately not many of my classmates came. So I was really glad I was able to go to the cabin because I saw many more classmates then I would have been able to see at the banquet.

After the banquet everyone was heading to the bar to celebrate. There was a live band playing and it was less than ½ block to my house. Unfortunately by this time I was getting very tired. That darn fatigue was getting in the way of my continuing the celebration. I told everyone that I would be the designated driver to drive them home but no one took me up on that one. I wonder why? But overall it was a great experience and I’m glad I went and I’m glad that my friend Meredith took the time to help me enjoy the celebration. I am very grateful to her.

Image of Lauren Gibilisco's class reunion.

Living With Wolfram Syndrome – Lauren Gibilisco

For once I can say that I have had a busy couple of weeks. It was really nice.  My sister took a vacation to Cancun. We got to dog sit Emmy, my sister’s dog, for a whole week. I have written about her before so I know you know her. It was fun to have extra company and someone to play with. But there were some problems.

Wolfram syndrome patient Lauren GibiliscoEmmy needed to be taken out to go to the bathroom. I couldn’t do that. First of all, I couldn’t see to put her leash on and hook her up to the stake. I also couldn’t see if she went to the bathroom. I am also not allowed to go outside by myself because I can so easily lose my direction and have trouble finding the house again. That was the rule put down after I got lost outside my house for an hour and 15 minutes in a tee shirt and shorts when it was 28 degrees. So my mom had to come home every couple of hours to let Emmy outside.

Emmy was very distracted while outside. My mom said she was a city dog in the country. My mom would tell her to go potty and she would start to but… oh a bird, I hear an owl, there are kids playing, leaves are blowing, etc. It did not take much to distract her. It would sometimes take a half hour to get her to settle down and go potty.

The other problem I had with Emmy is that she is very energetic. She liked to play a lot. I get tired in the afternoons and need to rest. But Emmy would bark at me to play. She wouldn’t let me sleep until I played with her. Luckily I didn’t have to play a long time. Overall, the rest of the time she was Emmy, my favorite dog and great company for me.

Here is the great news. I found another volunteer job. I am going to work at our local museum helping to catalog, fold clothes and put away special papers to preserve them. It is really fun. I work with this lady called Deb. She likes to talk as much as I do so my nonstop talking doesn’t bother her. It is very interesting the things we are preserving. A lot of the items I have never heard about or know how they were used, so it is fun learning about history while working. We have been folding linens this week. Although I can’t see them, Deb describes them to me and I feel the textures of the fabric. It is amazing to wonder how those people back then could create such intricate work.

I work at the museum on Tuesday, Thursday and Friday afternoons for about 4 hours. Then I am still working Wednesday morning at the telephone company. This will really help keep me occupied and I won’t be stuck at home being bored. Although I am not getting paid, it is so great to be out around people again and having someone else to talk to than just my mom. There is only one problem. My mom thought that when I got this job I would be talking to other people and so I would not have to talk to her so much. Oh she was so wrong. I come home and have stories to tell and conversations to repeat. So although I am not bored anymore, my mom unfortunately is still stuck with me talking non-stop.

Living With Wolfram Syndrome – Lauren Gibilisco

When I was 13 I saw a low vision specialist. He was trying different devices on me to get my vision a little better. Then he told me “you will never ever drive.” Well that about told me what my future was going to be like.

Me and my wonderful Mom.

Me and my wonderful Mom.

But I was going to prove the doctor wrong. My mom took me to a very large, empty parking lot. There I was able to satisfy my need for speed. I would go very fast and then slam on the brakes so the car would spin around. Then my mom would take me out into the country and I would drive fast on the gravel roads. One day she said “Lauren look out for that ditch,” and I said, “What ditch?” I was heading straight for it. My mom said that was enough. No more driving on the country roads or parking lots. My dad asked my mom if I would be a good driver if I could see. My mom said “No. The way she likes to drive fast she would get a whole lot of speeding tickets.” After our driving attempts I think that was when my mom started coloring her hair. Riding with me turned her hair gray.

This week on TV I saw something that may change my life. They are coming closer to having cars that drive themselves. I knew there were already cars out there that could parallel park. Could you imagine me trying to park between two cars? Well now they actually have cars that drive themselves. You just tell it where to go and it will drive you right there. They say it will be a lot safer driving than some of the people on the roads today. This would solve my problems. Right now I am reliant on my mom to drive me everywhere. She takes me shopping, out to eat or go to our many doctor appointments. Now I would be able to just jump in the car and say “take me there.” How cool would that be?

So technology has come a long way. They have come up with things that can really help people like me. They have talking watches, talking alarm clocks, talking scales, talking meters and many more. So there are great possibilities out there in technology that will make our life easier.

The only downfall I can see right now to getting a car that drives itself, is that I would probably visit the ice cream store a whole lot more.

Living With Wolfram Syndrome – Lauren Gibilisco

A couple of weeks ago I was asked if one thing could be healed on me, what would it be? I thought about it for a while and decided it would be my hearing. I asked my mom what she thought and she answered blindness of course. She couldn’t believe I said my hearing.

Photo of Lauren Gibilisco

Lauren Gibilisco

My hearing went before my blindness. But with the hearing I was able to get hearing aids that definitely helped me hear. Life went on and I slowly lost my vision. It wasn’t something that went at once so I was able to adapt. My cane instructor worked with me to listen for sounds in order to cross streets and even know where I was. So vision was directly affected by hearing.

Last week, my one hearing aid quit working and the other one had the ear mold fall off. This happened both at the same time. Suddenly I almost couldn’t hear anything. My mom called up our hearing doctor and asked if we could drop off my hearing aid that day and have them glue it back together. We had a hearing appointment scheduled for the next week but I couldn’t wait that long. It was right before Easter when all our relatives were coming to our house. They of course said they would be happy to do it for me. This is out of town for us, so my mom and me went out to lunch and then did some shopping to waste time until they called to say it was fixed.

Now just think about it. Here I was, not able to see anything, and now couldn’t hardly hear anything. My mom had to yell in my ear for me to hear. All of the sudden my vision became much worse because I did not have my hearing to help guide me. The dark became darker.

The following week I went to my hearing appointment. My hearing had been getting really bad and my mom made the appointment because she was tired of having to scream all the time. The good news is that the doctor said my hearing had decreased but not that much. It was my hearing aids that were shot. I needed a new pair. He also was telling us about the improvements in hearing aids since I had my other pair. He said they made them moisture proof so when I sweat in the summer it won’t affect them. He said I would be able to hear much better for the advancements but would still have difficulty understanding what was being said. It’s like I can’t tell if you said “pink or sink”. This makes me take time to understand what you are saying because here I am thinking you are talking about something being pink and you instead are talking about the sink. This takes the brain a little longer to catch up.

Now even though he said the understanding would still be a problem, there would be an improvement. I was happy to hear this. I talk with kids all over the world and understanding their accents is sometimes very difficult. I hope this will help me so I will be better able to connect with the world.

Now my mother understood why I would want my hearing fixed soon. I can get around pretty good with my cane and with my hearing I can do almost anything. After thinking it all through my mom had thought without being able to hear and see I would only have a few options. Would a cochlear implant help me or would we have to start learning sign language in the hand like Helen Keller did. My mom admitted it was more stressful to always having to repeat things than picking up something I bumped into and broke. Life is always amusing.

Living With Wolfram Syndrome – Lauren Gibilisco

blood sugars scaleThe Blood Sugars Balance

By: Lauren Gibilisco

I had a few weeks where my blood sugars were unstable. If I ate something that would make me go high, I was still low. This happened for about 2 weeks. Now the bad thing about the timing of low blood sugars is that I’d probably be able to have a lot of ice-cream since it usually makes me go high. But I gave it up for Lent and couldn’t indulge. L Since then the blood sugars have been erratic. I could eat the same thing at the same time and do the same thing and my blood sugars were very different from day to day. Now unfortunately this was a problem because I was going to have another Botox injection into my bladder. I couldn’t eat or drink anything after midnight. So not knowing how my blood sugars would be, I ate a carb full supper. I ate pizza and did not give any Humalog and cut my Lantus down by 5 units. We had to drive into Omaha for the surgery which is 2 hours away. We were afraid that I would be low and get lower on the drive. So cutting down on the insulin would really help keep me from going low. After all this my blood sugar was only 199 which aren’t great but considering everything I did it was something we were comfortable with. By the end of the time I was in the hospital, which was about 10 hours, my blood sugars were 128. Thank goodness my blood sugars cooperated that day.

Now when I was in the hospital they asked me if I wore a pump. I told them “no” because I can’t see it and they said they didn’t think about that. Right now I am totally independent in taking care of my diabetes. I use pens to dispense the insulin and I have a talking meter. Now I know the pump would be very beneficial to me but it would make me dependent on someone again. I’m not quite sure how they work but I think someone would have to dispense the insulin in. I know it also beeps to let you know if you are going high or low. That is something else I would have a problem with. Right now one of my hearing aids seems not to be working well. I also believe my hearing has decreased again. I am having a very hard time hearing. When you are blind you rely on your hearing. But with me being hard of hearing I can’t rely on my sight. So unfortunately it makes it very difficult to use the pump and remain independent. They have talking meters; hopefully someday they will have talking pumps. But they would need to have the volume be very loud. Now mom WHAT did you say????? Sometimes it is very convenient to not being able to hear your mom.

What It’s Been Like – Living With Wolfram Syndrome

Hello, Hola, Tung, Ciao, Bon Jour!

Photo of Lauren Gibilisco, Wolfram syndrome patient

In honor of the upcoming St. Patrick’s Day holiday. This was me from last year.

Recently I was contacted by someone who works with me. Her nephew’s girlfriend needed to write about someone with a disability. Of course she thought of me. Who better to pick from then someone with more than one disability?

I received a phone call from her and she introduced herself and told me what she needed for the report. I told her I had Wolfram syndrome. Her first questions were at what age I was diagnosed which I said was 12 when I was finally diagnosed with Wolfram syndrome but had diabetes mellitus at age 2, hearing loss age 5, vision loss and diabetes insipidus age 11.

She wanted to know if I had been treated differently by anyone because of my disease. I told her yes. In High School the teachers were great and made accommodations that I needed. I only had a few friends in high school. A lot of kids thought I was faking. They were nice to me but only a few went out of their way to help me. No one offered me rides home and to go shopping or to go to school activities. I was home alone a lot. You see my disabilities weren’t VISIBLE. They didn’t know how much was wrong with me because all the problems were inside of me. If I had lost a leg then people can see and will help you. They didn’t know all my problems with choking, ataxia, heat intolerance, seizures, fatigue, bladder issues, hearing loss, vision loss, etc. All of these problems at that time were invisible. Then in college I didn’t start using my cane until my last year. It wasn’t that I couldn’t see some but had become adept at counting doors, counting steps and feeling my way around. My Human Service Director thought I was even faking because I could do things so easily. I was able to have my text books downloaded and had computer software then read me the words. In spite of my disabilities I was able to have been ranked 8th in my high school and was a member of Phi Theta Kappa in college.

I told her about the lack of research when I was first diagnosed and now how much research is being done in St. Louis with Dr. Fumi and his team. When I was diagnosed there was very little written about Wolfram syndrome. My mom spent hours on the computer researching it and was able with another Wolfram parent to start the very first web page with a support group. It was how we were able to meet more people. I also told her that now I have several friends from all over the world. They are in England, Spain, Switzerland and Italy, Canada, Australia and of course the US. What is great is that I can actually see them and talk with them through Skype. It is fun talking to them although their accents sometimes make it difficult to hear. I also told her about the Snow Foundation and my blogs on their website so she could read them and get a better feel of who I am.

I told her of my desire to be a cop but I didn’t think they would give me a car or gun since I am blind.   When I was younger I had different dreams for myself but sometimes you have to change your dreams to fit life.

She asked me how I am doing now in my life. I said “As far as I see”, I am doing well. Haha.

Goodbye, Adios, Tung, Ciao, Au Revoir